Family History Of Autoimmune Disease Research Articles

9365 Now You See Me: The Case Of The Ectopic Thyroid

Abstract Disclosure: S.I. Suarez: None. S.K. Majumdar: None. Introduction: Lingual thyroid refers to ectopic thyroid tissue located at the base of the tongue or within the thyroglossal tract secondary to failed descent to its usual site (1). Ninety percent of ectopic thyroid glands are found at the base of the tongue and can occur in 1 in every 100,000 patients (2, 3). Clinical presentations commonly relate to obstruction of the oropharynx, and patients may experience dysphagia or throat fullness/discomfort (1). We present a case of lingual thyroid presenting as dysphagia and progressive hypothyroidism. Case: A 38-year-old woman with a history of HLD and hypothyroidism was referred for evaluation of ectopic thyroid tissue. She presented to her provider for concerns of dysphagia, neck swelling, and excessive hair thinning/loss. She had a recent increase in levothyroxine dose from 112 to 125 mcg after a TSH of 20.4 (0.27 to 4.2 uIU/mL). Repeat tests showed a TSH of 29.4 and a free T4 level of 0.79 (0.8 to 1.7 ng/dL). She denied use of thyrotoxic medications, any radiation or surgeries to head or neck, personal or family history of autoimmune disorders. Thyroid was nonpalpable on exam. A thyroid US 5 years prior showed a 15 x 5 x 5 mm right lobe and 12 x 8 x 5 mm left lobe. CT scan of soft tissue of neck with contrast showed a 14 x 13 x 15 mm hyperintense nodular lesion midline along the anterior glossoepiglottic fold at the foramen cecum, with an 8 x 11 x 8 mm hyperintense nodular lesion at midline abutting the anterior body of the hyoid bone, and no thyroid tissue in the expected thyroid bed, findings consistent with ectopic thyroid tissue along the expected thyroglossal duct. Furthermore, an I-123 scan with SPECT confirmed the ectopic thyroid tissue. What was thought to be thyroid lobes on previous thyroid US was likely paratracheal fat. Levothyroxine was increased to 137 mcg per day with improvement at 2 months (TSH 10.4, Free T4 0.91). Adjusting levothyroxine replacement was the primary intervention, given that elevated TSH may result in hypertrophy of lingual thyroid tissue resulting in dysphagia, particularly if there is no mass or suspicion of cancer on imaging. Conclusion Hypothyroidism presenting with dysphagia in the absence of goiter, previous thyroid surgery, or detectable thyroid tissue should warrant consideration of ectopic thyroid tissue and initial therapy should be directed towards normalizing TSH in conjunction with excluding malignant causes.

7243 COVID-19 Associated Primary Autoimmune Adrenal Insufficiency: A New Clinical Entity

Abstract Disclosure: J. Naredo Rojas: None. B. Udegbe: None. I. Remba-Shapiro: None. S.L. Stockman: None. L.B. Nachtigall: None. Background: The adrenal glands express angiotensin converting enzyme and transmembrane serine protease 2 receptors for SARS-CoV-2 protein S, facilitating viral entry. Cortisol levels are decreased in COVID-19 infection in correlation with disease severity. A number of potential mechanisms could relate autoimmune adrenal insufficiency (AI) to COVID-19, but whether or not SARS-CoV-2 infection plays a direct role in the autoimmune pathogenesis of primary AI is unknown. Furthermore, while single cases have been reported, autoimmune-mediated primary adrenal insufficiency following COVID-19 illness has not been formally studied. Purpose: To determine the association and clinical presentation of primary autoimmune adrenal insufficiency in patients with COVID-19 disease. Methods: A retrospective chart review was performed on patients presenting to Massachusetts General Hospital (MGH) with primary AI in the setting of recent COVID-19 illness. Review of the literature was performed to identify additional cases. Clinical, biochemical and radiographic characteristics, and interval between the diagnosis of COVID-19 and primary AI diagnosis were evaluated. Criteria for inclusion were biochemical confirmation of AI, clinical signs and/or symptoms of adrenal insufficiency within 6 months of COVID-19 illness, and evidence of autoimmune etiology of AI. Results: Five novel cases of COVID-19 associated primary autoimmune-mediated adrenal insufficiency from our Center were identified. Review of the literature yielded five additional cases. This series combines our Center’s experience, and the cases reported to date, including a total of 10 patients, 6 men and 4 women. All men (6/6) and 2 women (2/4) were < 30 years old. Patients demonstrated clinical evidence of adrenal insufficiency in a median time frame of 14 days (IQR 8.5-23.3) after SARS-CoV-2 infection. Vomiting, hypotension, and hyponatremia were present in all (N=10). Other common symptoms were nausea (90%), fatigue (70%), hyperpigmentation (70%) and hyperkalemia (50%). Nine (90%) had a positive past medical and/or family history of autoimmune disease. Nine (90%) had positive 21-hydroxylase antibodies. The median serum morning cortisol level was 1.1μg/dL with an IQR of 0.7-3.0 μg/dL. The mean ACTH level was 1235.2 pg/mL with a SD of 580.1 pg/mL. The mean ACTH was 19.3 x ULN with a SD of 10.0. Adrenal imaging did not show hemorrhage or necrosis but showed atrophy in 50%. Conclusions: This series reveals that autoimmune-mediated primary adrenal insufficiency may be diagnosed in the aftermath of COVID-19 illness. Age under 30, family history and/or past medical history of autoimmune disease may be associated. Future prospective studies are needed to determine causality. Presentation: 6/1/2024

The Prevalence of Musculoskeletal Pain and Assessment of Potential Risk Factors Among a Sample of Medical Students in Giza, Egypt.

Musculoskeletal pain (MSP) is one of the most prevalent conditions among global medical students, affecting their daily lifestyle. In this study, we seek to determine the prevalence of MSP and its associated risk factors in a sample of medical students at Misr University for Science and Technology, Egypt. A cross-sectional study was conducted between December 2023 and February 2024, with asample size of 1472 students who filled out a modified version of the Standardized Nordic Questionnaire. Demographic variables, study hours, and special habits were collected and analyzed. The prevalence of MSP in the past week and year was documented and analyzed using common risk factors. A total of 971 responses were considered for analysis (66% of the total sample size and 27.7% of the total medical students). The majority were between 18 and 25 years old, with 50.7% males and 49.3% females. The median age was 21 (20-23) years. Most of the students were in their fifth year (23.8%). The prevalence of at least one MSPsite was 459 (47.2%) in the past week and 702 (72.2%) in the past year. MSP in the past year was significantly associated with females (OR = 2.45, 95% CI = 1.82-3.3, p = 0.001) and those with a family history of autoimmune disease (OR = 2.19, 95% CI = 1.3-3.5, p = 0.001), while it was significantly associatedin the past week with females(OR = 1.72, 95% CI = 1.3-2.2, p = 0.001) and those with a personal history of autoimmune disease (OR = 2.26, 95% CI = 1.09-4.7, p = 0.025). In the past year, neck pain was significantly associated with females (OR = 1.83, 95% CI = 1.42-3.27, p = 0.001) and those with a family history of autoimmune disease (OR = 1.4, 95% CI = 1.01-2.08, p = 0.047). Students living inside October city were less likely to have neck pain in the past yearthan those who lived outside October city(OR = 0.73, 95% CI = 0.56-0.94, p = 0.017). Shoulder pain in the past year was significantly associated with females (OR = 2.9, 95% CI = 2.1-3.98, p = 0.001) and those with a family history of autoimmune disease (OR = 1.9, 95% CI = 1.28-2.81, p = 0.001) while back pain in the past year was significantly associated with females (OR = 2.1, 95% CI = 1.6-2.7, p = 0.001). Gender was the only factor that was associated with MSP on multivariate regression analysis for the past week (p = 0.001) and past year (p = 0.001). MSP is highly prevalent among medical students in Egypt, especially females, those with a personal history of autoimmune disease, and those with a family history of autoimmune disease. Despite the high prevalence and the effect on daily lifestyle, very few medical students sought help. More studies are needed to evaluate other risk factors and effective approaches to alleviate MSP among medical students in Egypt.

Autoimmune Progesterone Dermatitis Following Placement of a Progesterone-eluting IUD

A 26-year-old female with a history of Raynaud’s phenomenon and a family history of autoimmune disease presented with a cyclical facial rash for 10 months following placement of a progesterone-eluting IUD. The rash began 3-4 days before the onset of menses as a crusted, oozing, vesicular rash, and dried out and improved a few days following the onset of menses. The rash began around her eyes and progressively moved to her forehead, cheeks, jaw, and neck as the months on the IUD progressed. Physical exam revealed poorly-demarcated, pink scaly plaques with overlying crust on the mid-forehead, eyes, cheeks, nose, perioral region, and mid-chin. Patch testing and open application testing of personal skincare products at home were negative. ANA was marginally positive 1:40, although the rest of the rheumatologic workup was unrevealing. The patient’s history and exam were suggestive of autoimmune progesterone dermatitis and she planned to have her progesterone-eluting IUD exchanged for a copper IUD the following week. If no improvement, the patient planned to see a gynecologic endocrinologist for contraception with hormonal treatment that suppresses progesterone secretion rather than using progesterone to inhibit ovulation. The patient was lost to follow-up. Autoimmune progesterone dermatitis, also known as progesterone hypersensitivity, is a rare and under-recognized entity that may be triggered by endogenous (menses, pregnancy) or exogenous progesterone/progestin exposure (contraceptives, IVF).1 It may have a variety of clinical presentations and is thought to be IgE-mediated.1 Management may include reduction of exogenous progesterone and symptomatic control.

Early environmental predictors for attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and their co-occurrence: The prospective ABIS-Study

ADHD and ASD are highly heritable and show a high co-occurrence and persistence into adulthood. This study aimed to identify pre and perinatal risk factors, and early psychosocial exposures related to later diagnosis of ADHD, ASD, and their co-occurrence. 16,365 children born 1997–1999 and their families, involved in the prospective population-based ABIS study (All Babies in Southeast Sweden), were included in this sub-study. Pre and perinatal factors and early environmental psychosocial exposures were collected from parental-questionnaires at birth and 1-year follow-up. Diagnoses from birth up to 23 years of age were obtained from the Swedish National Diagnosis Register in 2020. The cumulative incidence of ADHD, ASD, and their co-occurrence in the ABIS-cohort Study were 4.6%, 1.7%, and 1.1%, respectively. Being male was associated with an increased risk for ADHD, ASD, and their co-occurrence (aOR 1.30, 1.56, and 1.91, respectively), while higher household income reduced it (aOR 0.82, 0.73, and 0.64). Serious life events during pregnancy (aOR 1.40) and maternal smoking (aOR 1.51) increased the risk of ADHD, while older maternal age (aOR 0.96), higher parental education (aOR 0.72 maternal and aOR 0.74 paternal) and longer exclusive breastfeeding (aOR 0.72) reduced it. Non-Swedish paternal nationality (aOR 0.40) and higher maternal education (aOR 0.74) were associated with a lower risk of ASD, while a family history of autoimmune diseases increased the risk of the co-occurrence of both disorders (aOR 1.62). Obtained results suggest that the etiology of ADHD, ASD, and their co-occurrence is independently associated with environmental psychosocial predictors. The co-occurrence seems to overlap the etiology of ADHD, in which psychosocial determinants have a larger role, however, it is also independently influenced by a family history of autoimmune diseases.

Acute Presentation of Autoimmune Hepatitis: Case Report

This case report describes the clinical presentation, diagnostic evaluation, and treatment outcome of a 38-year-old female patient presenting with yellow discoloration of eyes and urine, along with associated symptoms such as nausea, poor appetite, abdominal pain, extreme fatigue, and mild joint pain. The patient had a history of amenorrhea for three months and no family history of autoimmune disease or drug-induced liver injury. Upon examination, the patient exhibited deep icterus and mild tender hepatomegaly, but without signs of acute liver failure. Laboratory investigations revealed elevated liver function markers and positive autoimmune antibodies, including antinuclear antibody (ANA) and anti-smooth muscle antibody (ASMA), while ruling out other possible etiologies such as viral hepatitis, Wilson's disease, and hemochromatosis. Imaging studies showed features of acute hepatitis, and liver biopsy could not be performed due to prolonged prothrombin time. The patient was diagnosed with probable autoimmune hepatitis (AIH) and initiated on a treatment regimen consisting of prednisolone 40 mg daily, which was gradually tapered over time and added azathioprine 100 mg daily. The patient demonstrated significant improvement in liver function tests with this treatment approach. However, she discontinued treatment on her own accord but continued to have normal liver function during subsequent follow-up visits. During the consultation, the patient and healthcare provider engaged in a comprehensive discussion concerning the significance of sustained treatment over an extended period and the inherent possibility of relapse.

Autoimmune Disorders Associated With Surgical Remission of Cushing's Disease : A Cohort Study.

Glucocorticoids suppress inflammation. Autoimmune disease may occur after remission of Cushing's disease (CD). However, the development of autoimmune disease in this context is not well described. To determine 1) the incidence of autoimmune disease in patients with CD after surgical remission compared with patients with nonfunctioning pituitary adenomas (NFPAs) and 2) the clinical presentation of and risk factors for development of autoimmune disease in CD after remission. Retrospective matched cohort analysis. Academic medical center/pituitary center. Patients with CD with surgical remission and surgically treated NFPA. Cumulative incidence of new-onset autoimmune disease at 3 years after surgery. Assessment for hypercortisolemia included late-night salivary cortisol levels, 24-hour urine free cortisol (UFC) ratio (UFC value divided by the upper limit of the normal range for the assay), and dexamethasone suppression tests. Cumulative incidence of new-onset autoimmune disease at 3 years after surgery was higher in patients with CD (10.4% [95% CI, 5.7% to 15.1%]) than in those with NFPAs (1.6% [CI, 0% to 4.6%]) (hazard ratio, 7.80 [CI, 2.88 to 21.10]). Patients with CD showed higher prevalence of postoperative adrenal insufficiency (93.8% vs. 16.5%) and lower postoperative nadir serum cortisol levels (63.8 vs. 282.3 nmol/L) than patients with NFPAs. Compared with patients with CD without autoimmune disease, those who developed autoimmune disease had a lower preoperative 24-hour UFC ratio (2.7 vs. 6.3) and a higher prevalence of family history of autoimmune disease (41.2% vs. 20.9%). The small sample of patients with autoimmune disease limited identification of independent risk factors. Patients achieving surgical remission of CD have higher incidence of autoimmune disease than age- and sex-matched patients with NFPAs. Family history of autoimmune disease is a potential risk factor. Adrenal insufficiency may be a trigger. Recordati Rare Diseases Inc.

The Potential Coexistence of Autoimmune Thyroid Diseases and Pediatric Vulvar Lichen sclerosus.

Vulvar lichen sclerosus (VLS), a chronic inflammatory skin disorder, often coexists with autoimmune thyroid disease (AITD). VLS presents with subtle symptoms including vulvar itching and discomfort. Clinically, a "Figure 8" pattern involving the labia minora, clitoral hood, and perianal region is often observed. It is prevalent both in pre-pubertal girls and women aged 40-60, and the link between VLS and AITD remains unclear, with proposed causes including autoimmune, hormonal or genetic factors, and environmental triggers. This study addresses the lack of research on the association in children, aiming to investigate the largest group of underage girls to date. This study aimed to investigate the coexistence of thyroid autoimmune diseases in girls diagnosed with vulvar lichen sclerosus (VLS) and to assess the presence of antibodies for specific thyroid autoimmune diseases. Our study was conducted from July 2020 to February 2021, involving a sample of 55 girls aged 2-18 years old, all free from systemic diseases. The study group comprised 20 girls previously diagnosed with vulvar lichen sclerosus (VLS), while the control group included 35 girls without VLS. Legal guardians completed questionnaires detailing the medical history of their children. Blood samples were collected from all participants and subjected to biochemical analysis. The presence of human IgG antibodies against thyroid peroxidase and IgG antibodies against thyroglobulin was assessed using the immunoenzymatic method with commercially available ELISA kits. In the study group, common symptoms included itching, soreness, burning sensation, excoriation, and erythema or pallor of the skin and perineal mucosa. An evaluation of anti-thyroglobulin and anti-thyroid peroxidase antibodies revealed no statistical significance between the study and control groups (anti-TG p = 0.379, anti-TPO p = 0.96). Family history of autoimmune diseases showed no significant correlation with anti-thyroid antibodies in girls. Although no significant relation between VLS occurrence and antibody levels was found, it emphasizes the need for multidisciplinary medical care. Further research with larger patient groups is necessary.

Immunosuppression in two cases of indeterminate hepatitis.

Pediatric acute liver failure (PALF) is a potentially lethal and rapidly progressive clinical syndrome, with a large proportion of cases remaining indeterminate despite extensive investigations. In this case report, we describe two male children with indeterminate PALF and a family history of autoimmune disease, both of whom were lymphopenic with necrosis, inflammation, and lymphocytic infiltrates on their liver biopsies. One of these patients subsequently developed hepatitis-associated aplastic anemia. Notably, in addition to receiving standard liver failure care, both patients were successfully treated off-label with anti-thymocyte globulin (ATG), as well as a more prolonged course of cyclosporine and corticosteroids. The fact that these medications all suppress T lymphocytes further supports the theory that T-cell activation plays a prominent role in the pathophysiology of indeterminate hepatitis. Further research should examine the short-term and long-term effects of ATG in this population, as well as the necessary duration of treatment with immune-suppressing agents.

Maternal autoimmune disease and its association with childhood cancer: A population-based case-control study in Denmark

BackgroundAutoimmune diseases have been linked to an increased risk of pregnancy-related complications. A family history of autoimmune diseases may be related to the risk of childhood cancer based on similar histocompatibility antigens. We utilized data from national registries in Denmark to examine associations between maternal autoimmune disease and cancer in their offspring. MethodsWe linked data from several national registries in Denmark to identify childhood cancer cases in children <20 years diagnosed between 1977 to 2016. Controls were selected from the Central Population Register and matched to cases by birth year and sex (25:1). Mothers with autoimmune disease diagnosed in pregnancy or prior were identified from the National Patient Register. Multivariable conditional logistic regression analyses were used to estimate associations between maternal autoimmune diseases and childhood cancer in offspring. ResultsAutoimmune diseases (all types) were positively associated with all childhood cancers combined (Odds Ratio (OR) = 1.25, 95% CI 1.06, 1.47), acute lymphoblastic leukemia (OR =1.52, 95% CI 1.09, 2.13), Burkitt lymphoma (OR = 2.69, 95% CI 1.04, 6.97), and central nervous system tumors (OR = 1.45, 95% CI 1.06, 1.99), especially astrocytoma (OR = 2.27, 95% CI 1.36, 3.77) and glioma (OR = 1.75, 95% CI 1.13, 2.73). When we examined mothers with rheumatoid arthritis, we observed an increased association for all cancers (OR = 2.15, 95% CI 1.40, 3.30), acute lymphoblastic leukemia (OR = 3.55, 95% CI 1.69, 7.47), and central nervous system tumors (OR = 2.91, 95% CI 1.46, 5.82), especially glioma (OR = 3.58, 95% CI 1.40, 9.18) in offspring. ConclusionThere is a positive association between maternal autoimmune disease and childhood cancer. This association is especially prominent in the offspring of women with rheumatoid arthritis.

CONSANGUINITY AS A SIGNIFICANT RISK FACTOR FOR DIABETES MELLITUS: A SYSTEMATIC REVIEW

Objectives:This systematic review aims to study the recent updates regarding the association between consanguinity and DM. Methods:PubMed, SCOPUS, Web of Science, and Science Direct were systematically searched for relevant literature. Rayyan QRCI was employed throughout this comprehensive process. Results&amp; interpretation: Our results included ten studies with a total of 8878 patients, and 4565 (51.4%) were males. Eight studies included patients with T2D, and two included T1D. The prevalence of consanguinity ranged from 21.9% to 95% in T2D and 70.8% in T1D.PreoperThe development of T2D was significantly influenced by consanguinity, consanguineous marriages, and maternal diabetes, particularly in developing Arab countries where the prevalence of T2D in families is very high. Significant risk variables for T2D in MetS patients were consanguineous marriages, maternal aunts, maternal grandpas, and the presence of MetS in the parents family. A family history of autoimmune disease in children or paternal consanguinity is not strongly associated with the complexity of T1D.

CONSANGUINITY AS A SIGNIFICANT RISK FACTOR FOR DIABETES MELLITUS: A SYSTEMATIC REVIEW

Objectives:This systematic review aims to study the recent updates regarding the association between consanguinity and DM. Methods:PubMed, SCOPUS, Web of Science, and Science Direct were systematically searched for relevant literature. Rayyan QRCI was employed throughout this comprehensive process. Results&amp; interpretation: Our results included ten studies with a total of 8878 patients, and 4565 (51.4%) were males. Eight studies included patients with T2D, and two included T1D. The prevalence of consanguinity ranged from 21.9% to 95% in T2D and 70.8% in T1D.PreoperThe development of T2D was significantly influenced by consanguinity, consanguineous marriages, and maternal diabetes, particularly in developing Arab countries where the prevalence of T2D in families is very high. Significant risk variables for T2D in MetS patients were consanguineous marriages, maternal aunts, maternal grandpas, and the presence of MetS in the parents family. A family history of autoimmune disease in children or paternal consanguinity is not strongly associated with the complexity of T1D.

Thyroid function in pediatric patients with juvenile idiopathic arthritis.

Juvenile Idiopathic Arthritis (JIA) is a chronic inflammatory disease characterized by chronic synovitis, sometimes associated with fever, rash, pericarditis and uveitis. Limited data are available concerning autoimmune diseases associated with JIA in childhood. (a) evaluating the thyroid function in a group of Italian children affected by JIA; (b) identifying which Autoimmune Thyroid Diseases (ATDs) are related to JIA in this population. A population of 51 patients with JIA was investigated. Each patient enrolled was evaluated clinically (family history for Autoimmune Diseases (ADs), personal history and physical examination). In the sample were evaluated thyroid function, inflammation's index and anti-thyroid antibodies. The 68.6% (35) of our patients had the oligoarticular form, 27.5% (14) had the polyarticular one, 2% (1) had systemic onset and 2% (1) had undifferentiated arthritis. We focused our attention on the differences between the first two forms. We did not find any difference on the gender prevalence (p > 0.05). A higher presence of anti-TPO antibodies was found in the polyarticular form, with a significant difference with the oligoarticular one (p = 0.032). We researched the anti-hTG antibodies (p > 0.05) and ANA for each group (p > 0.05). We found a significant prevalence of family history for ADs in the polyarticular form (p < 0.05). Our findings show the necessity to focus on thyroid function in patients with JIA. Although the oligoarticular form is the most frequent, the polyarticular form shows a higher frequency of thyroid function's alteration. This suggests the need for specific attention in polyarticular form.

Literature Review and a Relevant Case of Pediatric Collagenous Gastritis: A Rare but Important Etiology of Iron-Deficiency Anemia.

An adolescent male with fatigue, weight loss, and iron-deficiency anemia failed to improve with iron supplementation and a gluten-free diet. Endoscopy revealed collagenous gastritis. Pediatric patients with refractory iron deficiency and family history of autoimmune disorders should be referred to pediatric gastroenterology for evaluation of collagenous gastritis and celiac disease.

SAT056 New-onset Autoimmune Diabetes After COVID-19 mRNA Vaccine: A Systematic Review

Abstract Disclosure: A. Laskova: None. B. Syritsa: None. Background: Vaccination against COVID-19 has become a great tool during the COVID-19 pandemic. Multiple studies have shown that vaccines are safe and effective. However, there have been reports of autoimmune diseases following the vaccination against COVID-19. One of the possible mechanisms is thought to be a reaction to adjuvants in the vaccine (ASIA syndrome). We present a systematic review of the cases of new-onset autoimmune diabetes after the COVID-19 mRNA vaccine. Methods: We included 10 patients from 6 case reports1-6 and 1 case series7 published before December 3, 2022. We analyzed demographics, results, and outcomes using descriptive statistics. Results: 60% were males, and 40% were females. The median age was 51.5 years. 70% received the BNT162b2 vaccine, 20% - the mRNA-1273 vaccine, 10% - an unnamed mRNA vaccine. 70% developed symptoms after the second dose of the vaccine. The onset was distributed from 1 week after the first dose to 8 weeks after the third dose. 30% had either personal or family history of autoimmune diseases. Among other 70%, 57% had HLA DRB1 and/or DQB1 alleles (unknown if HLA was tested in other patients). The disease manifested as diabetic ketoacidosis in 50% of the patients. Anti-GAD antibodies were elevated in 70% of the patients. 30% were weaned off insulin shortly after the diagnosis, meanwhile, the rest required insulin by the time of the articles’ writing. We noted that most of the patients who developed autoimmune diabetes after the COVID-19 vaccine had either personal or family history of autoimmune diseases or tested positive for certain pertinent HLA alleles. However, no causal relationship can be established based on the current cohort, and more research needs to be done.

FRI244 Autoimmune Polyglandular Syndrome Type 2 And Peripartum Cardiomyopathy: A Case Report

Abstract Disclosure: A.G. Jimenez: None. J.D. Christensen: None. P. Surampudi: None. S. Phatak: None. J. Yoon: None. Background: Peripartum cardiomyopathy (PPCM) is a diagnosis of exclusion with evolving understanding of pathophysiology. There is limited consideration of the autoimmune processes contributing to PPCM. Case Presentation: A 20-year-old female had a recent delivery complicated by placenta previa, hemorrhage requiring transfusion, and pelvic infection. She presented 2 weeks postpartum with altered mental status and abdominal pain, found to be in septic shock, acute respiratory failure, acute liver injury initially thought to be secondary to retained products of conception. Subsequently, she was diagnosed with moderate-to-severe PPCM as she developed signs of heart failure, low ejection fraction &amp;lt;35%, mild ventricular dilatation, cardiogenic shock, hemorrhagic pericardial effusion with tamponade. She had no other prior cardiovascular history. She was briefly started on bromocriptine for treatment of suspected prolactin-mediated PPCM, in addition to digoxin, as her blood pressure was unable to sustain other treatments for PPCM. However, she hemodynamically decompensated and required persistent pressor support, leading to evaluation for other causes. Due to her prior history of hypothyroidism, an adrenal evaluation with a cosyntropin stimulation test was done. It demonstrated an undetectable cortisol at 0, 30, 60 minutes, with an elevated ACTH (1256, n=7-63 ng/dL), consistent with primary adrenal insufficiency (PAI). Workup for PAI did not reveal any infectious, infiltrative, vascular, pharmacological, or neoplastic etiology. Lab workup for concomitant hypophysitis was significant for low IGF-1 (Z-score -5.8, n= -2.0 to +2.0), but otherwise had expected elevated prolactin (121 ng/mL, n=5.2-26.5 ng/mL), suppressed LH (0.3 mIU/mL) and FSH (2.4 mIU/mL), and normal TSH (3.87 mIU/mL, n=0.27-4.20 mIU/mL) on levothyroxine 100 mcg. She had normal parathyroid hormone and hemoglobin A1c levels with no history of chronic candidiasis. Further workup showed positive antibodies to adrenal 21-hydroxylase enzyme, thyroid peroxidase, and glutamic acid decarboxylase 65, suggestive of autoimmune polyglandular syndrome (APS) type 2. She was started on glucocorticoids and mineralocorticoids for adrenal insufficiency resulting in a significant clinical improvement. She was subsequently discharged in stable condition. Conclusion: Due to increased rates of mortality in PPCM (4-11%), thought should be given to nontraditional etiologies of cardiac failure. Although rare, adrenal insufficiency must be considered in those with moderate-to-severe PPCM who continue to decompensate despite treatments. Untreated adrenal insufficiency can result in fatal consequences if not immediately treated. APS type 2 should be considered even in those without any confirmed family history of autoimmune disease. Those with autoimmune tendencies may be at higher risk of PPCM. Presentation: Friday, June 16, 2023

FRI556 Thyroid Autoimmunity Leading To Premature Ovarian Insufficiency (POI) In A Euthyroid Young Woman

Abstract Disclosure: P. rimal: None. M. Moeed: None. C. Musurakis: None. A. Ojha: None. W. Akhtar: None. C.P. Barsano: None. M.F. Siddiqui: None. Introduction: Premature Ovarian Insufficiency is rare in young women and affects only 0.1% before the age of 30. The causes of POI in most cases remain unidentified, with autoimmunity being responsible for 4-30% of the cases. We present the case of a young euthyroid woman who presented for the evaluation of primary amenorrhea and diagnosed with POI associated with thyroid autoimmunity. Clinical Case: A 28-year-old Afghani woman with no known co-morbidities was referred to endocrinology clinic for the work up of primary amenorrhea. She was a goitrous and had normal secondary sexual characteristics and a history of withdrawal bleeding with OCP. There was no known personal or family history of autoimmune disease. Work up revealed hypergonadotropic hypogonadism with high FSH, 55 mIU/ml[Ref range for postmenopausal woman 16.7-113], high LH, 20.28 mIU/ml [Ref range for postmenopausal woman 10.8-58.69] and low estradiol, &amp;lt;2 pg/ml. Anti-Mullerian hormone was low, &amp;lt;0.08ng/ml [RefRange 0.69-13.39] signifying inadequate ovarian reserves and pelvic ultrasound confirmed atrophic ovaries. Etiological work up revealed normal female karyotype, 46XX, and negative FMR gene mutation testing for Fragile X syndrome. Thyroid functions were normal TSH, 3.3 mIU/L (0.27-4.2) and Free T4, 1.29 ng/dl[Ref Range 0.70-2.7]. Autoimmune work up was negative for adrenal 21-OH antibody and anti-ovarian antibodies. However, patient had strongly positive thyroid peroxidase (TPO) antibodies, 613.77 mIU/L[Ref range 0.0-9.0] consistent with thyroid autoimmunity. DXA scan revealed osteopenia. Thus, the diagnosis of POI associated with thyroid autoimmunity was established. HRT with estradiol patch and progesterone was initiated. Calcium, Vitamin D supplements and fertility counseling were provided. Conclusion: Thyroid disease is the most common autoimmune disease associated with POI. Studies have shown higher risk of POI and infertility in patients with Hashimoto’s and Graves’ diseases with co-existing high titers of TPO or anti-thyroglobulin antibodies. Ovaries are subject to autoimmune attack that leads to diminished ovarian reserves. However, until now the association of isolated elevation of TPO antibodies with POI has not been established. A Study by Osuka et al. did not find any significant difference in AMH levels between TPO and non-TPO positive euthyroid women and concluded that unlike hypothyroid women, thyroid autoantibodies were not likely to influence ovarian reserves in euthyroid women. Our case is unique where POI is associated with isolated elevation of TPO antibodies in the absence of clinical thyroid disease. This signifies the possibility that ovarian failure may precede the onset of thyroid disease in patients with thyroid autoimmunity and should be suspected and treated at an early stage, before ovarian reserves are diminished. Presentation: Friday, June 16, 2023

Hypothyroidism in Adult Women: The Utility of Targeted vs Universal Thyroid Screening.

Hypothyroidism is a common disease that is more prevalent in female populations. The purpose of this paper is to discuss the evidence, risks, and benefits of screening asymptomatic women for hypothyroidism. There is lack of evidence to support clinical management of asymptomatic individuals with an elevated TSH and normal serum thyroxine levels. Patients with subclinical hypothyroidism, especially the elderly, are at risk of overtreatment. Given these considerations, the majority of US and UK professional organizations do not support universal screening. Many do offer caveats for special groups, including pregnant people, who may need screening if there are clinical symptoms or family history of autoimmune disease. In conclusion, targeted screening may be best recommended based on risk factors, symptoms, and clinical suspicion, rather than at a universal level.

OA06 Behçet's associated myositis: an unusual cause of exercise-induced leg pain

Abstract Introduction This case describes a 29-year-old gentleman of Cypriot heritage who presented with exercise-induced bilateral lower leg pain and swelling which made it difficult for him to cycle. Symptoms progressed over months to calf pain at rest accompanied by fatigue. He subsequently presented with central visual loss in the right eye, followed by the left. The second episode of visual loss coincided with development of oro-genital ulceration and, following rheumatology review, a diagnosis of Behçet’s disease was made. The case is significant in terms of the chronicity and nature of presenting symptoms which is not typically described in this disease. Case description A 29-year-old gentleman presented with exercise-induced bilateral lower leg pain and swelling for which he was reviewed in emergency care on four occasions. He received treatment for presumed cellulitis and underwent US-doppler studies, excluding thromboembolic disease. MRI of the lower legs was requested given lack of diagnosis with ongoing symptoms. This demonstrated bilateral muscle oedema in the antero-lateral compartments and lateral gastrocnemius heads, prompting rheumatology referral. Prior to attending rheumatology, the patient developed bilateral sequential visual loss. This was attributed to right acute macular neuroretinopathy, followed by significant left posterior pole choroidal ischaemia 2 months later. Each presentation was associated with transient low-grade anterior uveitis, vitritis, and the presence of a pre-papillary vitreous infiltrate. Initial treatment included a six-week oral prednisolone taper from 60mg daily. He reported a progressive leg pain which initially occurred during cycling but later affecting his walking. He was of Cypriot heritage, with no family history of autoimmune disease. A focused history revealed oral ulceration and an acne-like pustular rash over the back. His gait was antalgic with minimal toe-off phase. Investigations demonstrated raised ESR and CRP, negative autoimmune immunology, negative myositis ENA, normal CK, and positive HLA-B51. Given these features, a provisional diagnosis of Behçet’s was made. Nerve conduction studies were requested to consider whether changes could be secondary to denervation. They displayed non-specific S1 neurogenic changes and small tibial motor amplitudes. Subsequent MRI lumbar spine excluded radiculopathy. Repeat CK remained within normal limits. Muscle biopsy was sought and performed with a clinical suspicion of atypical myositis which has previously been reported in Behçet’s. At the second episode of visual loss, he was admitted under ophthalmology and treated with intravenous methylprednisolone and azathioprine. The case was discussed with our regional centre of excellence for Behçet’s and infliximab at 5mg/kg was commenced. Discussion This case was notable for the complexity and atypical presenting features with calf pain induced by exercise likely due to atypical myositis (biopsy report still awaited at time of submission). More classical Behçet’s disease symptoms including oro-genital ulceration were significantly later. The case highlights the importance of multidisciplinary working and involving specialist centres especially when rapid escalation to biologic treatment is required. Leg symptoms are persistent but improved despite ongoing treatment with prednisolone and azathioprine with the recent addition of infliximab. Visual symptoms have stabilised and skin involvement has settled. Management Rationale At the time of first review in rheumatology clinic, high-dose steroid treatment had already been initiated; therefore, expediting the investigative aspect of his management felt most appropriate, particularly given that myositis seemed to be the predominant feature at that time. In joint consultation with neurophysiology and neurology, putting the EMG and MRI findings in context, MRI of the lumbar spine was felt necessary to exclude discogenic disease causing denervation oedema. Unfortunately, visual symptoms progressed rapidly after this, requiring admission, which precluded an earlier opportunity for biopsy but leading to quick authorisation and organisation of treatment with infliximab. Key learning points This case highlights an atypical presentation of Behçet’s disease including associated likely atypical myositis. Causes of exercise-induced leg pain in a young, fit patient need to be considered: The need for multidisciplinary discussion both across specialties and with regional centres is key in order to progress with diagnostics and treatment In sharing this case for discussion, we wish to highlight possible causes of exercise-induced calf pain and a pathway for investigation of this. Our patient had atypical myositis as the cause for his symptoms in the context of multi-system disease. Both his myositis and ophthalmology presentations were somewhat atypical but multidisciplinary working, along with the development of some further symptoms, were helpful in making the diagnosis.

Early Intervention by Family Physicians to Delay Type 1 Diabetes.

Type 1 diabetes (T1D) is an autoimmune disease mediated by T cells that target and destroy insulin-producing beta cells. Individuals with genetic risk of T1D will progress at variable rates through 3 stages of immune activation and development of islet autoimmunity. Measuring pancreatic islet cell autoantibodies predicts risk for progression that can take weeks to years before the onset of T1D. Screening options available to family physicians can identify persons at risk or in the early stages of T1D, such as first- and second-degree relatives or those with a family history of autoimmune disorders, to ultimately offer proven interventions that may delay or prevent the condition. Screening can reduce emergency room visits, hospitalizations, and intensive care unit admissions for diabetic ketoacidosis, which can be fatal, and can educate and prepare individuals and families for a smoother transition to insulin therapy when necessary. Recent advances in technology and understanding of the immune pathogenesis of T1D has resulted in emerging disease-modifying therapies that are changing how family physicians approach delaying and potentially preventing or reversing the disease.