History Of Iron Deficiency Anemia Research Articles

Abstract A099: Pulmonary thromboembolism secondary to iron deficiency anemia: A case study

Abstract Introduction: Pulmonary thromboembolism (PTE) is a significant clinical issue associated with high morbidity and mortality. Risk factors for thromboembolic events include immobilization, myocardial infarction, cerebrovascular accident, surgery, and trauma. Iron deficiency anemia (IDA) can cause reactive thrombocytosis, increasing thromboembolic risk. This study presents a 30-year-old female admitted for PTE, possibly secondary to IDA. Case Presentation: A 30-year-old female with IDA and heavy menstrual bleeding presented with right-sided chest pain and shortness of breath. Her pain, exacerbated by inspiration, and relieved by leaning forward, had worsened over four days. She also reported dizziness and agonal breathing. On arrival, her vitals included a blood pressure of 95/62 mmHg, heart rate of 110 bpm, respiratory rate of 22 breaths/min, and a temperature of 37°C. Physical examination revealed tachycardia, tachypnea, and diminished breath sounds in the right lower lung field. Laboratory tests showed a hemoglobin level of 4.6 g/dL and a platelet count of 745 × 10^9/L, low ferritin, low serum Iron, and high total iron-binding capacity (TIBC). A CT pulmonary angiogram revealed a wedge-shaped infarct in the right lower lobe, consistent with pulmonary embolism. CT abdomen/pelvis showed a thrombus in the right iliac vein, indicative of deep vein thrombosis. The echocardiogram showed left ventricular ejection fraction >55% with no right chamber strain. A pelvic ultrasound revealed no significant pathology. Treatment included heparin and blood transfusions, increasing hemoglobin to 9.0 g/dL. Hemolytic workup including prothrombin gene abnormalities, Factor V Leiden mutation, and protein C activity was negative. However, Protein S activity was low, and PTT-la positive, implying that the patient may be positive for lupus anticoagulant, later ruled out by serial antibody tests.Subsequently, the patient was discharged home on Eliquis and Ferrous sulfate with outpatient hematology follow-up. Discussion: The association between venous thromboembolism and IDA can be explained by several mechanisms. One study suggests that iron deficiency causes hypercoagulability through reactive thrombocytosis, increased oxidative stress, and altered blood viscosity. Another hypothesis is that the hyperdynamic state in anemic patients leads to vascular endothelial injury due to shear forces. This case highlights the importance of considering IDA as a potential risk factor for thromboembolism, especially in patients without other evident prothrombotic conditions. Conclusion: Iron deficiency may be an underestimated risk factor for thromboembolic events. This case underscores the need for a comprehensive workup for VTE that includes assessing for IDA. Iron replacement therapy could serve as an effective preventive strategy in patients with a history of IDA and those at risk for thromboembolism. Further research is warranted to explore the mechanisms linking IDA with increased thrombotic risk and to establish appropriate preventive measures. Citation Format: Aliya M Khan, Maria Toustsoglou, Sandy Philippeaux, David Del sol, Mehmet Hepgur. Pulmonary thromboembolism secondary to iron deficiency anemia: A case study [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A099.

A100 HEREDITARY HEMORRHAGIC TELANGIECTASIA: MORE THAN JUST ANOTHER RECTAL BLEED

Abstract Background Hereditary hemorrhagic telangiectasia (HHT), previously known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterized by widespread telangiectasia and visceral arteriovenous (AV) malformations. Diagnosis of HHT is commonly guided by The Curaçao Diagnostic Criteria. Molecular genetics can help confirm the clinical diagnosis. Genes involved include ENG, ACVRL1, SMAD4, and GDF2, which affect the bone morphogenic protein signaling pathway important in maintaining vascular endothelial integrity. Aims This report aims to review the case of a young male from a rural community in Northern Alberta with a possible new diagnosis of HHT, presenting with rectal bleeding in the setting of family history of telangiectasias. Methods Retrospective review of one patient. Results We report the case of a 33-year-old male who presented with a 1-day history of rectal bleeding (bright red turning to black) with hemoglobin at 116g/L. Past medical history was significant for occasional epistaxis since age 8, previous gastrointestinal bleed and laparotomy with pathology showing small intestinal vascular malformation at the age of 15, and small bowel obstruction secondary to adhesions requiring resection at the age of 26. There was no history of iron deficiency anemia. Family history was positive for a mother who had Von Willebrand disease and partial colectomy at the age of 28 due to bowel telangiectasias. His mother had no formal HHT diagnosis, but it was unclear if molecular genetics had been performed. Inpatient colonoscopy showed no culprit lesions but free-floating blood clots throughout the colon (Image). EGD and push enteroscopy were normal. CT enterography was then performed showing AV fistula in the distal ileum and venous malformations in the jejunum. Video capsule endoscopy followed revealed a few non-bleeding telangiectasia and petechiae. The patient was assessed to have possible HHT by The Curaçao Diagnostic Criteria. He was supplemented with IV iron and started on short-acting octreotide. On discharge, he received funding approval for long-acting octreotide and was referred to the Edmonton HHT clinic for follow up and further screening. Conclusions HHT remains underdiagnosed in both children and adults. Maintaining a strong suspicion and prompt diagnosis via the Curaçao Criteria is crucial for appropriate screening of the multisystem complications which stem from the AV malformations. This multidisciplinary approach can aid in reducing morbidity and mortality. Funding Agencies None

Mean Rise in Hemoglobin After Intravenous Iron Therapy in Children with Iron Deficiency Anemia

Introduction: Iron deficiency anemia (IDA) is a significant public health issue in Pakistan, affecting up to 63% of children, as revealed by the Pakistan National Nutritional Survey 2018. While oral iron remains the primary choice, challenges in compliance have led to the consideration of intravenous (IV) iron therapy, particularly iron sucrose. The study discusses the safety and efficacy of IV iron therapy in Pakistani children and aims to broaden our understanding of treating IDA in resource-constrained regions. Aims & Objectives: To determine the average hemoglobin (Hb) increase in iron-deficient-anemic children aged 01 to 12 years after treatment with intravenous iron sucrose. Place and Duration of Study: A quasi-experimental study was undertaken at Fauji Foundation Hospital in Rawalpindi, spanning from September 2021 to September 2022. Material & Methods: The study focused on a cohort of pediatric patients aged between 1 and 12 years, all of whom were diagnosed with iron deficiency anemia and had previously encountered ineffective outcomes with oral iron therapy. In this investigation, the patients received treatment involving intravenous iron sucrose. Subsequently, their progress was diligently monitored after a period of 8 weeks. Improvement in hemoglobin level was assessed at the end of treatment to evaluate its efficacy.Data processing and statistical analysis were carried out using SPSS version 23,p-value of <0.05 indicated statistical significance. Results: Out of 150 study cases, 96 (64.0 %) were male, while 54 (36.0 %) were female. The mean age of our study cases was 05 ± 2.3 years of these 150 study cases, 74 (49.3 %) belonged to rural areas, and 76 (50.7 %) belonged to urban areas. Poor socioeconomic status was noted in 97 (64.7 %), and 53 (35.3%) were middle-income. A family history of iron deficiency anaemia was recorded in 16 (10.7%). Iron deficiency due to dietary iron insufficiency was reported in 67 (44.7%), Total Parentral Nutrition (TPN) dependencywas seen in 61 (40.7%) and 22 (14.7%) had chronic gastritis. The mean baseline (pretreatment) haemoglobin level was 7.71 ± 0.63 g/dl, while the mean post-treatment haemoglobin level was 10.68 ± 0.60 g / dl (p = 0.001). Conclusion: After intravenous iron sucrose, we noted a significant rise in paediatric patients' hemoglobin levels, emphasizing its effectiveness and safety. Statistically, we found correlations with age, family history, and causes. Healthcare practitioners should consider injectable iron treatments for better results and reduced health issues in this group.

Plummer-Vinson Syndrome: A Rare Case Report

Plummer-Vinson syndrome, also called Paterson-Kelly syndrome, is characterized by the classic triad of dysphagia, iron-deficiency anemia, and esophageal webs. This syndrome is associated with an increased incidence of post-cricoid carcinoma and for surveillance, an endoscopy is recommended under general anesthesia. This was a case of 74-year-old woman with Plummer-Vinson Syndrome who was successfully treated with Savary-Gilliard (SG) dilation or Esophageal dilation. The patient had a long-standing clinical history of iron deficiency anemia with slow progression of dysphagia of solid food from 10 years and glossoepiglotic fold, aryepiglottic fold bilaterally arytenoid on the left & right side and had experienced difficulty in swallowing for the past 10 years. Along with this patient is having abdominal pain radiating to the epigastrium region and fever with chills & rigors. An endoscopy examination was conducted under general anesthesia and revealed the esophageal web at the level of the cervical esophagus. Laboratory data investigation shows an RBC count of 2.09 million/cumm, haemoglobin of 6.6 gm/dl%, and serum iron of 7µg/dl. The patient was prescribed Inj. Orofer-XT 100 mg intravenous iron sucrose supplement daily for 15 days, Inj. Pantoprazole 40 mg daily for 1 week, Inj. Tramadol 1amp whenever required and Syp.Sucralfate 15 ml 30 minutes before food. Her anemia condition was improved but dysphagia did not improve. To treat dysphagia the Savary-Gilliard (SG) dilation was done under fluoroscopy by endoscopically a single session was performed that serially increased the diameter by disrupting the web without any complication. After SG-dilation, the patient's dysphagia resolved shortly after the treatment.

Rates and Predictors of Prophylaxis in Women with Von Willebrand Disease and Heavy Menstrual Bleeding

Background: Women with von Willebrand disease (vWD) suffer from heavy menstrual bleeding (HMB) often complicated by iron deficiency anemia (IDA) and reduced quality of life. Despite the American Society of Hematology (ASH) recommendations for long-term prophylaxis in patients with severe frequent bleeds, prophylaxis remains under-utilized in women with severe HMB. Given the scarcity of data on management of gynecological bleeding, it is critical to examine our practice patterns and identify factors associated with prophylaxis use. Aims: 1) To evaluate the management and outcomes of gynecological bleeding in vWD, including rates of desmopressin (DDAVP) and vWF prophylaxis for HMB and predictors of their use. 2) To examine the association between prophylaxis and severe HMB. Methods: This retrospective cohort study included women ≥18 years diagnosed with vWD in the Northern Alberta Bleeding Disorders Program. We assessed the rates of HMB, severe HMB and IDA, along with their management strategies. Prophylaxis rates with DDAVP and vWF concentrates, as well as predictors of their use, were examined. Severe HMB was defined as HMB requiring Emergency Department (ED) visits, hospitalizations, blood transfusions, or surgical management (dilation & curettage [D&C], endometrial ablation or hysterectomy). IDA was defined as ferritin <30 mcg/L and hemoglobin <120 g/L. Logistic regression was used to examine factors associated with severe HMB. Variables with P-value <0.20 on univariate regression were included in multivariable regression. Results: 168 women were evaluated with a median age of vWD diagnosis of 27 years (IQR 18-38): 140 (81%) type 1, 23 (13%) type 2, and 5 (3%) type 3 vWD. Among those with type 1 vWD, 43 (31%) had baseline vWF levels <0.30 IU/ml, 94 (67%) had vWF levels of 0.30-0.49 IU/ml, and 3 (2%) had missing values. DDAVP response was assessed in 124/140 (89%) type 1 vWD and 13/23 (57%) type 2 vWD. There were 145 (86%) women with HMB, managed most commonly by tranexamic acid (TXA) (112; 77%), followed by hormonal therapy (73; 50%), subcutaneous DDAVP (40; 28%), and levonorgestrel intrauterine system (39; 26%). vWF prophylaxis was used in only 11 (8%) women. Surgical procedures for HMB were common including hysterectomy (28; 19%), endometrial ablation (15; 10%) and D&C (15; 10%). Over a quarter (39; 27%) received iron infusions. Of the 65 (45%) women with a history of IDA, 6 (9%) had persistent IDA >5 years, 6 (9%) had IDA lasting 2-5 years and 53 (65%) had IDA corrected within 2 years. Prophylaxis rates did not differ between the 68 (40%) women with severe HMB and the 77 (53%) with non-severe HMB, with comparable rates of VWF use (9% vs 6%, P=0.60). Compared with women who never received prophylaxis, those who received DDAVP or vWF prophylaxis were more likely to have received TXA (93% vs 70%, P=0.003), iron infusions (43% vs 19%, P=0.004) and to have been diagnosed before 2000 (22% vs 7%, P=0.03) (Table 1). Though non-significant, a higher proportion of type 3 vWD (9% vs 1%, P=0.06) and higher ISTH-BAT (median 8 vs 7, P=0.07) were observed in prophylaxis recipients. On multivariable logistic regression, time from first bleeding symptom to diagnosis (adjusted odds ratio [aOR] 1.04, 95% CI 1.01-1.07) and prophylactic DDAVP use (aOR 2.4, 95% 1.01-5.6) were associated with severe HMB. There was a non-significant trend towards lower odds of severe HMB in patients diagnosed in 2000-2010 and 2011-2021 as compared to pre-2000 (aOR 0.3, 95% 0.1-1.0). Diagnosis before age 18, vWD type and baseline vWF activity were not associated with severe HMB. Conclusion: Women with vWD experience high rates of HMB and its associated complications. In our study, there was a relatively high uptake of DDAVP prophylaxis, however vWF prophylaxis was under-utilized even in those with severe HMB. We failed to demonstrate an impact of either prophylactic therapy on severe HMB, though this may be due to confounding by indication. There was a significant association between prophylactic DDAVP and vWF with other quality of care indicators including TXA and iron infusions. It is unclear if this association is related to practice patterns or patient factors such as access to care or preference for early definitive treatment. Overall, our findings highlight a need to further understand the barriers to prophylaxis use and to consider earlier prophylaxis for severe HMB to decrease bleeding complications and the need for resource-intensive therapies.

AN UNUSUAL MANIFESTATION OF METASTATIC CROHN’S DISEASE: A CASE REPORT

Abstract INTRODUCTION Crohn’s Disease (CD) is a chronic granulomatous inflammatory disease involving any section of the gastrointestinal (GI) tract. Metastatic Crohn’s Disease (MCD) is a rare extraintestinal manifestation of CD defined as cutaneous granulomatous lesions non-adjacent to the GI tract. We present a case of suppurative lymphadenitis as a presentation of MCD. This has not yet been reported in the literature. CASE REPORT A 22-year-old female with a history of iron deficiency anemia and left calf abscess, secondary to Methicillin-Resistant Staphylococcus Aureus (MRSA) infection, was diagnosed with ileocolonic CD at 18. Her CD was complicated by strictures and abdominal and left tubo-ovarian abscesses with a fistula to the sigmoid. She underwent Ileocolonic resection, sigmoid colectomy and left salpingo-oophorectomy. Histology of the ovarian abscesses unveiled granulation tissue with pseudocysts. Azathioprine and Infliximab were started. At 20, the patient reported acute onset of swelling and pain on the left side of her neck. She denied any constitutional symptoms, sick person or animal contacts, travel, use of recreational drugs and sexual activities. Physical exam was remarkable for a tender, rubbery, 2-centimetre left cervical lymph node. The neck Ultrasound showed cervical lymphadenitis. Antibiotic was started and later extended to target resistant infections. Despite this, she reported worsening symptoms. Computed Tomography of the neck noted a collection suggestive of suppurative lymphadenitis. Incision and Drainage (I & D) of the abscess was done; MRSA was detected. Histology exposed necrotizing granulomata encircled by palisading histocytes and giant cells. There was no evidence of dysplasia, fungal, acid-fast bacilli or spirochetes. Further, Human Immunodeficiency Virus serology, Interferon-Gamma Release Assay and chest radiograph were unremarkable. Later, she underwent surgical excision revealing a fistula to the lower mandible. A drain was placed and then removed upon recovery. Meantime, her CD stayed stable; Infliximab was held till the completion of antibiotics. A year later, she reported a tender, swollen lump on the left side of her groin with an ultrasound confirming inguinal suppurative lymphadenitis. Antibiotics were started, and I &D was done for lasting symptoms. The culture and histology were similar to the previous. Considering the history of CD and histology findings, MCD was concluded as the etiology of this patient’s recurrent MRSA abscesses. CONCLUSION Patients on biologic therapy are immunocompromised and presumed high risk for super-infections. In a setting of a persistent infection, despite antibiotics, the possibility of MCD as the cause of lymphadenitis should be raised to cue the clinician to alter therapy and address the MCD within a multidisciplinary setting.

Hypophosphatemia associated with use of intravenous ferric carboxymaltose

ferric carboxymaltose (CF) is an intravenous preparation that helps the rapid correction of anemia with a lower risk of adverse reactions. However, an association has been found between the administration of CF and the development of hypophosphatemia. we present the clinical case of a 57-year-old patient with a history of iron de-ficiency anemia who, after receiving treatment with CF (Ferinjet®) chronically, develops a clinical of severe muscle weakness. Laboratory tests showed hypophosphatemia, normocalcemia, normal vitamin D level (after correction) and increased renal excretion of phosphorus. After study, the diagnosis of chronic hypophosphatemia secondary to the use of CF is reached. CF can cause an increase in FGF-23 which acts at the renal level inducing phosphaturia, which can generate severe hypophosphatemia. This case demonstrates the importance of recognizing and treating this clinical entity in time.

Abstract 14733: Fluid Around a Small Heart- Cardiac Manifestation of Anorexia Nervosa

Background: Anorexia Nervosa (AN) is an eating disorder which is characterized by an abnormally low body weight (BMI<18.5), a distorted perception of weight and an intense fear of gaining weight. It is prevalent in about 0.3 to 1% of the US population. Diverse cardiovascular complications are noted in these patients including decreased cardiac output, left ventricular mass and dimensions; pericardial effusion, bradycardia, hypotension and prolonged QT interval. We report a patient presenting with recurrent chest pain, and was diagnosed to have pericardial effusion secondary to AN. Case Presentation: A 27-year-old female with history of iron deficiency anemia, benign ethnic neutropenia, anorexia nervosa and borderline personality disorder, presented with insidious onset of atypical chest pain in the substernal region. Her BMI at presentation was 18.4, vital signs and systemic examination were normal. EKG showed a prolonged QT interval. She was noted to have normal blood cell counts, metabolic parameters and cardiac enzymes. A limited bedside echocardiography was normal except for the presence of mild pericardial effusion. She was treated with anti-inflammatory agents and discharged. A week later she presented with similar complaints. Management: Repeat cell counts were normal. Electrolytes revealed mild hypokalemia. Her CXR showed evidence of microcardia with a pulmonary artery diameter of 0.40. A repeat echocardiogram showed persistence of mild to moderate pericardial effusion. Etiological evaluation was negative for infections, autoimmune markers, and thyroid abnormalities. There was no evidence of ischemia and no rhythm abnormality. Her symptoms improved with analgesics and reassurance. Conclusion: Eating disorders like AN, have protean cardiovascular manifestations. Atypical chest pain in patients with AN is mostly idiopathic (38%) in the absence of risk factors. Silent pericardial effusion is found in about 22% to 71% of patients with AN. In these patients, factors like low BMI, rapid weight loss, low T3 levels, and IGF-1 levels correlate with pericardial effusion. Most patients show resolution of the effusion, normal cardiac dimensions and QT interval, after weight restoration without further intervention necessary.

Young patient with thunderclap headache, seizure activity, and fixed eye deviation.

A 39-year-old female with a history of iron deficiency anemia presented to the emergency department (ED) with a 3-hour history of severe headache followed by acute-onset projectile non-bilious, non-bloody vomiting, acute mental status change, and seizure-like activity. The onset of the headache was spontaneous and described as the worst headache of her life. Vomiting and seizure-like activity began several hours after the onset of headache, and emergency medical services (EMS) were called at that time. The patient was found to be unresponsive by EMS. Upon arrival to the ED, the physical examination was notable for fixed left eye deviation, intermittent withdrawal from noxious stimuli, and spells of sustained clonus in the lower extremities greater on the left than the right. The patient was given 2-mg intravenous lorazepam with minimal improvement in the tonic–clonic activity. The patient was hemodynamically stable and had an oxygen saturation of 98% on room air. Initial laboratory test results were significant for anemia (hemoglobin = 5.2 g/dL, hematocrit = 21%) and elevated platelets (426.5). Computed tomography (CT) of the head, CT angiogram of the head and neck, CT venogram of the head, and urgent neurology consult were obtained immediately after arrival to the ED. The patient continued to decline after CT and was intubated for airway protection. Imaging was suggestive of acute venous sinus thrombosis extending from the superior sagittal sinus to the right cranial jugular vein with no definite intracranial hemorrhage (Figures 1 and 2) and bilateral segmental and subsegmental pulmonary emboli (Figure 3). This case describes a typical presentation of cerebral venous sinus thrombosis (CVST). CVSTs are more commonly seen in women aged 30–50 years.1 Commonly, sinus thrombosis can lead to subarachnoid hemorrhage with a subsequent “thunderclap” headache that can lead to neurological symptoms.3 Neurology evaluated the patient in the ED, and the patient was taken to the operating room for an aspiration thrombectomy and started on a continuous heparin infusion. The patient had gradual improvement of symptoms after 1 week of inpatient care in the neurology intensive care unit. At discharge, she was started on indefinite anticoagulation and levetiracetam for seizure prophylaxis. Further workup showed no evidence of hypercoagulability, no recent trauma, and no oral contraceptive use. CVST is defined as occlusion of dural sinuses leading to decreased venous flow, an increase in intracranial pressure, decreased cerebral perfusion pressures, and dilation of the cerebral veins. Continued hypoperfusion can result in ischemic tissue damage, resulting in acute neurologic symptoms such as seizures, headaches, altered mental status, and increased intracranial pressure. Without treatment, the thrombus can damage vessel walls, increasing the chances of vessel rupture, leading to subarachnoid hemorrhages and decreased cerebrospinal fluid outflow.1 Common risk factors for CVSTs include recent trauma, malignancy, thrombophilia, infection, obesity, oral contraceptive use, and increased estrogen states such as pregnancy.2

ODP086 Detecting Primary Hyperparathyroidism with Image Discordant Findings

Abstract Introduction Primary hyperparathyroidism is a common cause of hypercalcemia, with 80-85% of cases being due to a single gland adenoma. The sensitivity of imaging modalities varies, with ultrasound at 76%, sestamibi scintigraphy at 63%, and 4-dimensional computed tomography (CT) scan at 89%. Clinical Case A 48-year-old woman with a remote history of iron deficiency anemia presented with 2 weeks of dry cough. She reported associated body aches and fatigue, but review of systems was otherwise negative. Family history was notable for a maternal grandmother with an unknown thyroid disease. On presentation, her blood pressure was 115/74 mm Hg, temperature was 37.1 Celsius, pulse was 64 beats per minute, with a respiratory rate of 16 breaths per minute, and oxygen saturation of 100 percent on room air. On exam, there was no thyromegaly, and there were decreased breath sounds. Initial labs were notable for calcium of 11.4 mg/dL (reference range: 8.4-10.2 mg/dL). Her rapid Covid antigen test was negative. A chest x-ray showed bilateral opacifications, suggestive of community acquired pneumonia. She was started on isotonic intravenous (IV) fluids, as well as ceftriaxone and azithromycin. The calcium remained persistently elevated and peaked at 12.6 mg/dL. Creatinine levels remained between 0.7-1. 0 mg/dL (reference range: 0.5-1. 0 mg/dL). Phosphorus level was 3.6 mg/dL (reference range: 2.5-4.5 mg/dL). Parathyroid hormone level was 174.6 pg/mL (reference range: 37.87-83.87 pg/mL). 24-hour urinary calcium was 660 mg (reference range: 0-320 mg). Ultrasound of the neck showed multiple mildly suspicious thyroid nodules, but no notable findings for the parathyroid gland. Subsequent nuclear medicine sestamibi scan revealed no discrete parathyroid adenomas. The 4-dimensional CT scan did not mention parathyroid pathology on the report. However upon review by a head and neck surgeon, a suspicious lesion was identified adjacent to the right thyroid lobe. Intervention was indicated given her age (<50), serum calcium > 1 mg/dL above the upper limit of normal, and 24-hour urinary calcium > 400 mg. The patient underwent a right neck exploration, and a right superior parathyroidectomy was performed. Conclusion The patient met the criteria for primary hyperparathyroidism based on her normal kidney function, elevated serum calcium, and elevated parathyroid hormone. While imaging is frequently ordered, it is important to note that it does not have a role in confirming or ruling out the diagnosis of primary hyperparathyroidism. It should instead be used to localize abnormal parathyroid glands for operative planning. This case highlights the importance of surgical consultation in primary hyperparathyroidism, especially in the setting of negative or conflicting imaging results. Presentation: No date and time listed

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature.

Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency anemia. Her hemoglobin level increased from 6.5 g/dL to 12.6 g/dL with a prolonged duration of therapeutic dose oral iron therapy (5 mg/kg/d), and the level remained quite stable during the therapy. Genetic analysis of the TMPRSS6 gene revealed compound heterozygotes of 2 novel pathogenic variants: c.811C> T (NM_153609.3) in exon 7 (NP_705837: p.R271Ter) and c.1254C> G in exon 11 (p.Y418Ter). The results highlight the significance of genetic investigation and long-term iron therapy in iron-refractory iron deficiency anemia patients.

BILATERAL PULMONARY EMBOLISM MASQUERADING AS MEDIASTINAL LYMPHADENOPATHY DIAGNOSED WITH ENDOBRONCHIAL ULTRASOUND

BILATERAL PULMONARY EMBOLISM MASQUERADING AS MEDIASTINAL LYMPHADENOPATHY DIAGNOSED WITH ENDOBRONCHIAL ULTRASOUND

S2435 A Rare Case of Plummer-Vinson Syndrome Treated With Pneumatic Dilations and Iron Supplementation

Introduction: Plummer-Vinson Syndrome (PVS), also known as Paterson-Kelly syndrome, presents with a classic triad of dysphagia, iron-deficiency anemia and esophageal webs. Although this triad of disease is increasingly less prevalent, early detection and intervention are imperative to reduce mortality given increased risk of malignant transformation.1 Case Description/Methods: A 22-year-old female with a history of iron deficiency anemia presented to the emergency department with syncope in the setting of palpitations and dyspnea. The patient endorsed alarm symptoms including hematochezia over the past 6 weeks, 20-lb unintentional weight loss and dysphagia. Initial labs were remarkable for a hemoglobin of 11.1 g/dL, and microcytic indices, with an MCV of 72.4 fL. The patient underwent esophagogastroduodenoscopy (EGD) to investigate the etiology of iron deficiency anemia. EGD revealed a prominent esophageal web (Figure A) in the proximal esophagus with associated erythema and mucosal friability. Significant narrowing impeded safe passage of the endoscope and thus serial pneumatic dilations to 10 mm were performed. Following pneumatic dilation, the endoscope was successfully advanced beyond the web (Figure B) to the gastroesophageal junction. The patient tolerated the procedure well and had immediate resolution of dysphagia following EGD with pneumatic dilation. She was then continued on iron supplementation as previously prescribed at discharge. Discussion: Plummer-Vinson Syndrome comprises the pathological triad of dysphagia, esophageal web, and iron deficiency anemia. Other signs and symptoms can include glossitis, angular cheilitis, and koilonychia. The decreased incidence of this syndrome parallels the decreased prevalence of iron deficiency in the developed world. Iron deficiency induces an iron-dependent enzyme dysfunction which causes oxidative stress, mucosal DNA damage and ultimately potentiates the formation of esophageal webs. 2 Without intervention, patients with this syndrome may develop absolute dysphagia, aspiration pneumonia and other complications. Due to increased risk of malignancy, surveillance EGDs are necessary to screen for esophageal carcinoma in patients with PVS.Figure 1.: Esophageal Web pre dilation (a) and post dilation (b).

S3488 Symptomatic Meckel’s Diverticulum in an Adult Presenting With Recurrent Gastrointestinal Bleeding

Introduction: Meckel’s diverticulum is a gastrointestinal congenital malformation that results due to persistence of the vitelline duct, and is commonly diagnosed in children before the age of two. Rarely, symptomatic Meckel’s diverticulum can present in adults, as in this case with recurrent gastrointestinal bleeding. Case Description/Methods: A 51-year-old male with a history of iron deficiency anemia presented to the hospital with hematochezia associated with mild epigastric tenderness. He had a similar presentation one year ago with unrevealing EGD, colonoscopy, and video capsule endoscopy. Three months ago, repeat colonoscopy was notable for a single nonbleeding diverticulum in the terminal ileum and outpatient double balloon endoscopy was recommended, however not yet done due to current hospitalization. He presented with tachycardia and hypotension as well as a hemoglobin 10.6g/dL (previously 11.4g/dL few weeks prior) and mildly elevated BUN. CT abdomen and pelvis was negative for any active bleeding. Repeat EGD and colonoscopy was unremarkable except for blood-tinged fluid interspersed in the colon but again the source of bleeding remained obscure. Given the history of a previous finding of a terminal ileum diverticulum and persistence of hematochezia, a Meckel’s scan was performed revealing abnormal uptake in the right mid to lower abdomen suspicious for Meckel’s diverticulum containing ectopic gastric mucosa. Patient was taken to the operation room; a large Meckel’s diverticulum was noted at approximately two feet proximal to the ileo-cecal valve along with hemorrhagic inflammatory changes within the local mesentery. Patient underwent partial small bowel resection and appendectomy with pathology revealing a Meckel’s diverticulum of the ileum with gastric heterotopia. Patient had an uncomplicated recovery postoperatively along with resolution of hematochezia. Discussion: A finding of Meckel’s diverticulum is common in the pediatric population; however, it is a rare diagnosis in adults. This case highlights the importance of considering Meckel’s diverticulum for instances of recurrent gastrointestinal bleeding, especially in patients who are still symptomatic despite an extensive workup. It is also important to notice that Meckel's diverticulum can be missed on video capsule study.

P189 DOAC: WHEN DRUG INTERACTIONS MAKE A DIFFERENCE

Abstract Introduction Direct oral anticoagulants (DOACs), as substrates of cytochrome P450 and / or P–glycoprotein (P–gp), are susceptible to drug–drug interactions (DDI) by both inducers and inhibitors. Awareness of this aspect is essential when choosing a DOAC, to avoid exposing the patient to an increased risk of bleeding or cardioembolicism. Description We report the clinical case of a 41–year–old woman with a history of iron deficiency anemia and primary hypertrophic cardiomyopathy (HCM), who came to our emergency room for an episode of atrial fibrillation with high ventricular rate (HR 140 bpm), datable (<48h) and haemodynamically well tolerated. She was therefore subjected to pharmacological cardioversion with amiodarone, which was found to be effective. Subsequently, she was subjected to interrogation of the defibrillator (ICD), of which the patient was a carrier in primary prevention, with the finding of numerous episodes of AF, lasting up to several hours, paucisymptomatic. An antiarrhythmic prophylaxis with amiodarone and anticoagulant therapy with edoxaban was therefore recommended at discharge. In the following two months, in conjunction with the menstrual cycle, the patient had access to emergency room for metrorrhagia with the need for blood transfusion due to severe anemia (Hb 6 gr / dl). The gynecological tests were negative and she was entrusted to the cardiologist for the management of the therapy. Reassessed on an outpatient basis, given the impossibility of changing antiarrhythmic drugs, as amiodarone is the only molecule recommended for rhythm control in patients with this type of cardiomyopathy, and given the possible interaction between edoxaban and amiodarone (+ 40% plasma DOAC levels ), it was decided to shift to another DOAC: rivaroxaban 20 mg (less interference). In the following twelve months the patient no longer had acute anemia phenomena, the hemoglobin values remained stable and upon interrogation of the ICD device there were no arrhythmic events. Comment We have described this case to underline how the possible pharmacokinetic interactions between DOACs and antiarrhythmic drugs are of fundamental importance in daily clinical practice, especially when there are non–reversible causes that increase the risk of bleeding. In this case, the therapy shift vs a DOAC with a documented lower DDI interaction was found to be conclusive.

TMPRSS6- Mutation in Iron Deficiency Anemia: A Review

Introduction: Iron is one of the metals involved in a variety of physiological reactions, including the construction of haemoglobin, which transports oxygen to the tissues. Chronic blood loss or insufficient food intake are the most common causes of iron insufficiency.. A germline mutation in TMPRSS6, which encodes type two transmembrane serine protease generated by the liver and helps regulate the expression of systemic iron, can induce anaemia that is resistant to oral iron treatment.
 Structure: The plasma membrane is cleaved by TMPRSS6 in vitro. The signalling mechanism required for iron-dependent hepcidin transcription regulation is thought to be downregulated by TMPRSS6. They also investigated whether the robust physiologic inducer of hepcidin, iron, can affect TMPRSS6 mRNA levels in vivo, as one of the most important activators of hepcidin expression in vitro and in vivo.
 Role of TMPRSS6: Overexpression of normal TMPRSS6 protein reduces Hamp promoter activity, and the TMPRSS6 cytoplasmic domain mediates Hamp suppression via the proximal promoter element. TMPRSS6 polymorphisms are more common than mutations and have been linked to variations in iron and hematologic markers.
 Conclusion: Because TMPRSS6 is linked to haematological factors, it is essential for maintaining iron homeostasis and proper erythropoiesis. Overproduction of hepcidin is caused by the TMPRSS6 mutation, which contributes to poor iron absorption and utilisation. Patients with poor transferrin saturation, normal ferritin levels, high amounts of hepcidin molecules, and a family history of iron deficiency anemia should be aware of TMPRSS6 gene mutations.

S2044 A Rare Case of Lymphocytic Esophagitis in a Patient With Recurrent and Severe Oral Ulcers

Introduction: We describe a unique case of lymphocytic esophagitis with non-necrotizing granulomas in a patient with a three-year history of recurrent oral ulcers that did not resolve with standard medical therapy. Case Description/Methods: A 37-year-old female with a history of iron deficiency anemia presents with recurring intermittent episodes of severe oral ulcers that began after a 6-month course of antibiotics for hiradenitis suppurativa. She reported weight loss due to odynophagia and oral pain. An oral ulcer biopsy revealed dense lymphocytic and plasmocytic infiltrate with collections of histiocytic granulomas and multinucleated giant cells. Ulcer outbreaks coincided with stress and menstruation, but a gynecological etiology was unremarkable. Colonoscopy locally was non diagnostic for Crohn’s disease (CD). An obvious rheumatological etiology was not found. The patient was placed on fexofenadine once daily and a second biopsy of the oral ulcers revealed connective tissue focally surfaced by fragments of squamous epithelium, erosive lichen planus and a robust influx of mixed chronic inflammation including non-necrotizing granulomas. Further rheumatologic and dermatologic evaluation suggested an oral manifestation of Behcet’s disease. Given persistent odynophagia, esophagogastroduodenoscopy was performed. Small non-bleeding erosions in the lower third of the esophagus was found on endoscopy. Biopsies were significant for lymphocytic esophagitis with non-necrotizing granulomas and mycobacteria and fungus stains were negative. Differential diagnosis by pathology included sarcoidosis, Behcet’s disease and inflammatory bowel disease. Acid-fast and fungal stains were negative. Repeat colonoscopy including ileoscopy was negative. Management considerations by rheumatology included genetic testing for HLA-B51, steroids and colchicine. Discussion: Granulomatous esophagitis is a rare manifestation of systemic autoimmune disease including Behcet’s, Crohn’s Disease and sarcoidosis. Although only seen in 5% of CD cases, esophageal manifestations can present as granulomatous esophagitis. Pyogenic granulomatous esophagitis is typically managed with systemic corticosteroids or endoscopic resection. In our case, evaluation for Crohn’s disease was unremarkable and the presence of pathergy and involvement of non-keratinized squamous mucosa is suggestive of an oral manifestation of Behcet’s disease despite absent genital ulcers and join pain.

S1575 Isolated Gastrointestinal Gangliocytic Paraganglioma

Introduction: Gangliocytic paragangliomas of the GI tract are neuroendocrine tumors located in the second portion of the duodenum. Isolated gastrointestinal paragangliomas are rare, as paragangliomas are often associated with genetic conditions, including Von Recklinghausen disease (NF1) and Paraganglioma-Pheochromocytoma Syndrome (HPPS). We present the case of a 45 year-old woman --without the aforementioned hereditary conditions-- with symptomatic anemia found to have an ulcerated ampullary paraganglioma. Case Description/Methods: Our patient is a 45 year-old woman with a medical history of iron deficiency anemia and a remote cholecystectomy who presented with a four day history of melena, weakness, palpitations, and dyspnea. Her exam did not reveal epigastric tenderness, abdominal pain, rebound or guarding. Labs were notable for a microcytic anemia (Hgb: 3.4 g/dl) without transaminitis or elevated lipase. She was transfused 5 units packed red blood cells with appropriate response. A CT abdomen/pelvis was normal. Colonoscopy was without evidence of bleeding. Enteroscopy revealed a large mass in the second portion of the duodenum adjacent to the Ampulla of Vater. EUS characterized the mass as a well defined, hypoechoic submucosal lesion measuring 3 cm, without extension to the common bile duct and pancreatic duct. Fine needle biopsy revealed rare atypical spindle cells with high S-100 positivity. The patient underwent resection with a transduodenal ampullectomy. Surgical pathology demonstrated a 3.8 cm ampullary gangliocytic paraganglioma. Further genetic testing for HPPS was negative (FH, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL). She did not have evidence of upregulated hormonal activity, with normal levels of 24 hour urine metanephrines, TSH, and renin/aldosterone. Discussion: Gastrointestinal gangliocytic paragangliomas require a comprehensive work-up beyond fine needle biopsy to achieve a diagnosis. EUS/FNA is often inconclusive, as spindle cell predominance on cytology can mimic a schwannoma, necessitating further tissue sampling and/or resection. In addition, genetic testing and hormonal lab work is favored to rule out associated conditions such as NF1 and HPPS. Our patient’s diagnosis was made after transduodenal ampullectomy as the initial fine needle biopsy did not contain ganglion and epithelioid cells, additional neural crest derivatives. Post operatively, genetic and hyperadrenal testing were noncontributory, confirming the diagnosis of an isolated paraganglioma.Figure 1.: Large, submucosal mass in the second portion of the duodenum with 2 areas of surface ulceration. Lesion is close in proximity but not in direct continuity to the ampullary orifice.

Prevalence and influencing factors of deciduous dental caries among preschool children in Qingdao city in 2019

In 2019, the rate of primary tooth caries rate among 1 598 preschool children in Shinan District and Shibei District of Qingdao was 59.4%. The multivariate logistic regression model showed that compared with children ≤ 2 years old with history of iron deficiency anemia (IDA), suffering IDA, breastfeeding to 2 years old and no tooth melanin, children ≤ 2 years old without history of IDA, not suffering IDA, breastfeeding to less than 2 years old and heavy tooth melanin had a lower risk of primary tooth caries, with OR (95%CI) values about 0.328 (0.197-0.549), 0.354 (0.208-0.603), 0.636 (0.437-0.926) and 0.301 (0.143-0.635), respectively.

All Tied Up: Not Your Typical Distended Abdomen

Question: A 28-year-old woman with a history of iron deficiency anemia and pos-traumatic stress disorder was evaluated in the emergency department for 2 weeks of intermittent abdominal discomfort, nausea, and vomiting. Physical examination revealed a young woman with a hard distended abdomen that was diffusely tender to palpation. Lab oratory tests were significant for a low hemoglobin (9.4 gm/dL), low mean corpuscular volume (75 fL), and low ferritin (7). Her white blood cell volume (7.9 × 10³ mL) and lactic acid (1.3 mEq/L) were normal. A pregnancy test was negative and an abdominal computed tomography scan was performed (Figure A). What is the diagnosis and what is the next best step in management? See the Gastroenterology web site (www.gastrojournal.org) for more information on submitting your favorite image to Clinical Challenges and Images in GI. This patient has pica and had been consistently ingesting elastic hair ties for the past 5 years—since the birth of her child. The computed tomography scan (Figure A) shows her stomach to be markedly distended with ingested material (innumerable, thin, linear, radiodense structures) located throughout the stomach and proximal duodenum. An upper endoscopy with monitored anesthesia care was subsequently performed and confirmed the presence of ingested hair ties throughout the gastric cavity (Figure B). The ties had coalesced into several large, tangled, hardened masses consistent with gastric bezoars. An overtube was placed and the foreign bodies were removed in sequential fashion with a rat-tooth forceps and cold snare. After partial removal, a 1.4-cm nonbleeding crater ulcer was found at the incisura (Figure C) and a large number of ties were extricated from the pyloric sphincter. In total, 172 individual bands were removed (Figure D). The patient recovered without event, and hematology and psychiatry services were consulted. Pica refers to repeated consumption of nonfood substances and has been associated with both iron deficiency anemia and pregnancy, although the underlying mechanism is not well-understood.1Al Nasser Y. Muco E. Alsaad A.J. Pica.in: StatPearls. Treasure. StatPearls Publishing, Island, FL2021Google Scholar A majority of ingested objects pass without the need for intervention, although the need seems to be higher with intentional ingestions.2Ikenberry S.O. Jue T.L. Anderson M.A. et al.ASGE Standards of Practice CommitteeManagement of ingested foreign bodies and food impactions.Gastrointest Endosc. 2011; 73: 1085-1091Abstract Full Text Full Text PDF PubMed Scopus (446) Google Scholar A gastric bezoar specifically refers to a collection of indigestible material accumulating in the stomach.3Pfau P.R. Benson M. Foreign bodies, bezoars, and caustic ingestions.in: Sleisenger and Fordtran’s gastrointestinal and liver disease- 2 volume set: pathophysiology, diagnosis, management. 11th ed. Elsevier, New York2020: 399-410Google Scholar These generally occur in the setting of poor gastric emptying, with vegetable matter (phytobezoar), hair (trichobezoar), and medications (pharmacobezoars) being the most common.3Pfau P.R. Benson M. Foreign bodies, bezoars, and caustic ingestions.in: Sleisenger and Fordtran’s gastrointestinal and liver disease- 2 volume set: pathophysiology, diagnosis, management. 11th ed. Elsevier, New York2020: 399-410Google Scholar Clinical manifestations include anorexia, nausea, vomiting, and early satiety. Gastric ulceration secondary to pressure necrosis and mechanical obstruction secondary to accumulation in the small intestine can occur.3Pfau P.R. Benson M. Foreign bodies, bezoars, and caustic ingestions.in: Sleisenger and Fordtran’s gastrointestinal and liver disease- 2 volume set: pathophysiology, diagnosis, management. 11th ed. Elsevier, New York2020: 399-410Google Scholar Urgent endoscopy or surgical intervention are indicated in patients with objects causing gastrointestinal tract obstruction.2Ikenberry S.O. Jue T.L. Anderson M.A. et al.ASGE Standards of Practice CommitteeManagement of ingested foreign bodies and food impactions.Gastrointest Endosc. 2011; 73: 1085-1091Abstract Full Text Full Text PDF PubMed Scopus (446) Google Scholar An overtube facilitates the sequential removal of foreign bodies with protection of the airway. If endoscopic therapy is unsuccessful or complications such as perforation arise, surgical intervention may be required.3Pfau P.R. Benson M. Foreign bodies, bezoars, and caustic ingestions.in: Sleisenger and Fordtran’s gastrointestinal and liver disease- 2 volume set: pathophysiology, diagnosis, management. 11th ed. Elsevier, New York2020: 399-410Google Scholar