History Of Hereditary Spherocytosis Research Articles

A Curious Case of Suspicious Lymphadenopathy in a Hereditary Spherocytosis Patient Reported as Extramedullary Hematopoiesis.

We present a case of a 23-year-old male patient with complaints of fever, cough, and persistent anemia for the past 6 months and with a known history of hereditary spherocytosis. Computed tomography (CT) thorax demonstrated multiple paravertebral lesions in the bilateral thoracic cavities, suggestive of lymphadenopathy; subsequently, 18Flurodeoxyglucose PET/CT was done with suspicion of lymphoma, which showed no significant metabolic activity in those lesions. Thus, in view of clinical and metabolic status, lesions were considered extramedullary hematopoiesis (EMH). This case highlights the importance of considering EMH, while interpreting suspicious lymphadenopathy in cases of chronic anemia and also possible scan findings in the same.

Eosinophilic cholecystitis in children: Case series

IntroductionEosinophilic cholecystitis (EC) is rarely seen in the pediatric population. Most of the available literature comes from adult patients, while only anecdotal cases have been reported in children. ObjectiveTo describe the clinical course, management, and outcomes of all EC cases treated at a children's hospital. Material and methodsAll cholecystectomy specimens obtained between 2011 and 2017 were retrospectively reviewed. EC was diagnosed when more than 90% of the inflammatory cells in the gallbladder wall were eosinophils, whereas lymphoeosinophilic cholecystitis (LEC) was diagnosed when the percentage of eosinophils was between 50 and 90. We analyzed all clinical aspects of patients with EC and LEC. ResultsWe identified and reviewed 134 cholecystectomy specimens. Of them, 8 (6.0%) were classified as EC, and 3 (2.2%) as LEC. The mean age at presentation was 12.6 (2–17) years. The female-to-male ratio was 1.5/1. One patient had a history of hereditary spherocytosis, and 3 patients had systemic eosinophilia. All patients presented with clinical and radiological signs of acute cholecystitis and underwent cholecystectomy. Acute cholecystitis was confirmed by histopathology in all cases. All cases of EC and LEC had cholelithiasis. None of the patients required additional treatment. All patients recovered uneventfully. ConclusionsEC is rarely seen in children, it does not have a specific clinical presentation, and it is always associated with cholelithiasis. The diagnosis is made postoperatively by histopathology. All patients in our study presented with acute cholecystitis. Type of studyRetrospective review. Level of evidenceLevel IV.

2337 Secondary Sclerosing Cholangitis and Nodular Regenerative Hyperplasia Caused by Hereditary Spherocytosis

INTRODUCTION: Hereditary spherocytosis is a hemolytic anemia that leads to premature cell destruction due to red cell membrane defect. It causes release of unconjugated bilirubin, and subsequent bilirubin gallstone formation occurs. Chronic recurrent choledocholithiasis can cause secondary sclerosing cholangitis (SSC). Hemolysis can lead to chronic vascular injury and portal vein thrombosis, resulting in Nodular Regenerative Hyperplasia (NRH). Here, we report a case of HS causing SSC with concurrent NRH. CASE DESCRIPTION/METHODS: A 37-year-old female with a history of hereditary spherocytosis with thrombocytosis presented to the office for abnormal liver function tests (LFTs). History of splenectomy and cholecystectomy in 2002. Patient was noted to have abnormal LFTs in 2009 (Figure 1). Her LFTs were routinely monitored until 2016 when she presented with epigastric pain, jaundice, and abnormal LFTs. Viral and autoimmune hepatitis serologies were negative. Iron studies were normal. Right upper quadrant (RUQ) ultrasound (US) showed mildly dilated intrahepatic ducts. Magnetic resonance cholangiopancreatography(MRCP) was performed which showed a questionable stricture in the proximal CBD and mild dilatation of the central intrahepatic duct. ERCP showed normal caliber CBD with multiple filling defects. A biliary sphincterotomy was performed and the stone was removed. ERCP performed in 2016 and 2018 revealed multiple stones in the biliary ductal system, which were removed and the CBD was dilated. Liver biopsy showed mild portal and lobular inflammation with mild portal fibrosis and changes suggestive of NRH. DISCUSSION: HS caused the patient's recurrent choledocholithiasis and contributed to SSC. Pathologically, SSC causes inflammation, obliterative fibrosis, stricture formation, and destruction of the biliary tree, which leads to biliary cirrhosis. Although often reversible, outcomes may not be as favorable if it is not recognized quickly, particularly in critical illness induced SSC. NRH is a liver disease characterized by many hyperplastic nodules without separation by fibrotic tissue. It is associated with any systemic disease that causes vascular injury, in this case our patient’s HS. Pathology in our case revealed only “mild” changes suggestive of NRH, so the patient hasn’t yet developed portal hypertension. There are no cases in literature that document HS as a factor contributing to either of these disease states. Early suspicion and liver biopsy are necessary for prompt diagnosis and improved outcomes.

Case Report: Chronic Thromboembolic Pulmonary Hypertension Postsplenectomy in Hereditary Spherocytosis

SESSION TITLE: Pulmonary Vascular Disease SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Chronic thromboembolic pulmonary hypertension (CTEPH) is an uncommon but well-recognized cause of pulmonary hypertension.1 CTEPH is characterized by intra-luminal thromboembolism and subsequent arterial stenosis after recanalization. Splenectomy carries an increased risk of CTEPH development.2 CASE PRESENTATION: A 43 year old male with a history of hereditary spherocytosis (HS) status-post splenectomy and narcolepsy was admitted for dyspnea and syncope. He denied prior history of deep vein thrombosis or pulmonary embolism. Home medications were significant for an 8 year use of amphetamine-dextroamphetamine. Pertinent physical exam findings included jugular venous distention and a prominent S2 on cardiac auscultation. Labs were significant for polycythemia (hemoglobin 18.3 g/dl), normal platelets, and a brain natriuretic peptide level of 2200 pg/ml. Computed tomography scan for pulmonary embolism was negative. Transthoracic echocardiogram suggested pulmonary hypertension, with a normal left ventricular ejection fraction. Cardiac MRI depicted severe right ventricular dilation and dysfunction. Right heart catheterization revealed mean pulmonary artery pressure of 55 mmHg, pulmonary capillary wedge pressure of 7 mmHg, a cardiac index of 2.2, and a pulmonary vascular resistance of 1012 dyn*s/cm5. Ventilation/perfusion scan showed large perfusion mismatched defects, confirming the diagnosis of CTEPH (Figure 1). Prothrombotic workup was unrevealing. The treatment plan included a referral for pulmonary thromboendarterectomy. DISCUSSION: Splenectomy and hereditary spherocytosis have been associated with a 20 fold increased risk of CTEPH.2 The link between splenectomized spherocytosis patients and CTEPH remains undetermined.1 Theories include the involvement of prothrombotic, abnormal erythrocytes allowed to circulate due to the loss of splenic filtration. Thrombocytosis may also cause a prothrombotic state in these patients. Finally, scavenging of nitric oxide by free heme due to intravascular hemolysis may result in vasoconstriction and endothelial damage.2 Important aspects of therapy include anticoagulation and surgery. Confounding this case, amphetamines such as those taken by this patient for narcolepsy have been associated with an increased risk of pulmonary hypertension.3 CONCLUSIONS: Although CTEPH is rare, it should be considered in patients with prior splenectomy presenting with symptoms consistent with pulmonary hypertension, especially if they have underlying hematologic disease. Reference #1: Hoeper MM, Mayer E, Simonneau G, Rubin LJ. Chronic thromboembolic pulmonary hypertension.Circulation. 2006 Apr 25;113(16):2011-20. Reference #2: Jaïs X, Ioos V, Jardim C, Sitbon O, Parent F, Hamid A, Fadel E, Dartevelle P, Simonneau G, Humbert M. Splenectomy and chronic thromboembolic pulmonary hypertension. Thorax. 2005 Dec 1;60(12):1031-4. Reference #3: Chin KM, Channick RN, Rubin LJ. Is methamphetamine use associated with idiopathic pulmonary arterial hypertension?. Chest.2006;130(6):1657-63. DISCLOSURE: The following authors have nothing to disclose: Nisha Crouser, Avraham Cooper, Samuel Jersak No Product/Research Disclosure Information

Spinal Cord Infarction in a Patient with Hereditary Spherocytosis: A Case Report and Discussion.

The etiology of spinal cord infarcts (SCIs), besides being related to aortic perioperative events, in large subset of SCIs, remains cryptogenic. We present a first case of SCI in a patient with hereditary spherocytosis and discuss the potential pathophysiologic considerations for vascular compromise. A 43-year-old woman with a history of hereditary spherocytosis, post splenectomy status, presented with chest, back, and shoulder pain with subsequent myelopathic picture; SCI extending from C4-T2 was confirmed by MRI. Despite aggressive treatment her stroke progressed leading to her demise. Her autopsy confirmed the SCI and revealed some incidental findings, but the cause of SCI remained unidentified. Exclusion of the known etiologies of SCI by extensive negative workup including autopsy evaluation suggested that SCI in our case was related to her history of hereditary spherocytosis. Both venous and arterial adverse vascular events, at a higher rate, have been associated in patients with hereditary spherocytosis who had their spleens removed compared to nonsplenectomized patients. Postsplenectomy increases in the platelet, red blood cell count, leukocyte count, and cholesterol concentrations are postulated to contribute to increased thrombotic risk. Additional prothrombotic factors include continuous platelet activation and adhesion as well as abnormalities of the red blood cell membrane.

Is activity restriction appropriate for patients with hereditary spherocytosis? A population-based analysis

Patients with hereditary spherocytosis (HS) are often thought to have an increased risk of blunt splenic injury (BSI) from trauma due to splenomegaly. We aim to quantify this risk. Using a population-based database consisting of all injury-related admissions in Canada from 2001 to 2010, we identified patients with BSI and HS based on the discharge diagnoses. Intercensal population estimates were used to derive rates of BSI. The HS population at risk for BSI was estimated based on population rates of HS obtained from the literature. Rates of BSI in the HS population were estimated and the relative rates of BSI were calculated to compare the populations with and without HS. There were 10,106 patients with BSI over 202,405,788 person-years of observation, yielding an overall rate of BSI in the general population of 5.0 BSI per 100,000 person-years. Of these BSI patients, only two had a history of HS. Population rates of HS in the literature range from 1 in 2,000 to 5,000, corresponding to a low estimate of 2.0 and a high estimate of 4.9 BSI per 100,000 person-years in the HS population. The relative rate of BSI in the population with HS compared to the population without HS ranged from a low of 0.4 (95 % CI 0.1-1.4) to a high of 1.0 (0.1-3.6). The rate of BSI in the HS patient population appears not to differ significantly from those in the general population.

Hereditary Spherocytosis (HS) Associated with a Heterozygous MTHFR C677T Mutation and with Elevated Anticardiolipin Antibodies.

Abstract 5069 BackgroundHereditary spherocytosis (HS) is a spectrum of inherited erythrocyte membrane defects that result in hemolysis and varying degrees of anemia, usually not associated with increased thrombotic risk. However, there is some concern about post-splenectomy thrombocytosis, since both arterial and venous thromboembolic events have been reported in patients splenectomized for HS.A review of the medical literature revealed only a few cases of thrombosis associated with pregnancy and hereditary spherocytosis, and none of them had methyl tetrahydrofolate reductase (MTHFR) mutations or the presence of elevated anticardiolipin antibodies (both considered risk factors for thromboembolic disease). MethodsCase report ResultsA 34-year-old Caucasian female with history of hereditary spherocytosis and splenectomy at age five, underwent evaluation for infertility. The patient was found to have a high titer of anticardiolipin antibodies and the presence of heterozygosity for the MTHFR C677T mutation. She denied any personal or family history of deep venous thrombosis. Subsequently the patient became pregnant. Because the combination of thrombophilic states appears to increase the risk of thromboembolic events, it was decided to start the patient prophyllactically with oral aspirin 81 mg daily, Foltx® (Folic acid 2.5 mg, cyanocobalamin 2000 mcg, and pyridoxine hydrochloride 25 mg), and heparin 5000 mg subcutaneously twice a day. On her most recent evaluation, at 26 weeks of pregnancy, no medical or obstetric problems have been observed. ConclusionOur case illustrates an unusual combination of thrombophilic states. Further studies are needed to evaluate the clinical significance of this association. DisclosuresNo relevant conflicts of interest to declare.