anemia in aps

Autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive hereditary pathology that develops with endocrine and non-endocrine manifestations in childhood. The classic triad of APS-1 includes chronic candidiasis of the skin and mucous membranes, adrenal insufficiency, and hypoparathyroidism. APS-1 is often accompanied by hypogonadism, type 1 diabetes, autoimmune thyroiditis, vitiligo, alopecia, asplenia, pneumonitis, gastritis, pernicious anemia, and intestinal dysfunction, nephritis, and hepatitis...

OBJECTIVE: To investigate the value of machine learning methods for predicting in-hospital mortality in trauma patients with acute respiratory distress syndrome (ARDS). METHODS: A retrospective non-intervention case-control study was performed. Trauma patients with ARDS met the Berlin definition were extracted from the the Medical Information Mart for Intensive Care III (MIMIC III) database. The basic information [including gender, age, body mass index (BMI), pH, oxygenation index, laboratory indexes, length of stay in the intensive care unit (ICU), the proportion of mechanical ventilation (MV) or continuous renal replacement therapy (CRRT), acute physiology score III (APS III), sequential organ failure score (SOFA) and simplified acute physiology score II (SAPS II)], complications (including hypertension, diabetes, infection, acute hemorrhagic anemia, sepsis, shock, acidosis and pneumonia) and prognosis data of patients were collected...

OBJECTIVES: Thrombocytopenia, a frequent clinical manifestation in patients with APS, could be an independent predictor of recurrent thrombotic, obstetric and severe extracriteria events. METHODS: This single-centre prospective study enrolled 218 consecutive patients diagnosed with primary APS between 2010 and 2021. Thrombocytopenia was defined as a platelet count less than 100 × 109/L. RESULTS: Our cohort included 74 (33...

We present a case of a 41-year-old woman who was diagnosed with autoimmune polyendocrine syndrome type 1 (APS-1) at the age of 2. She developed severe anemia and was diagnosed with pure red cell aplasia (PRCA) and T-cell large granular lymphocyte leukemia at the age of 34. The pathogenesis of APS-1 is based on the presence of an inactive mutation in the autoimmune regulator gene on thymic medullary epithelial cells. It is thought that the autoimmune T cells generated by impaired negative selection in the thymus induce PRCA...

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Autoimmune polyglandular syndromes (APS) are rare disorders characterized by auto-destruction of endocrine and non-endocrine organs by organ-specific antibody-directed T-lymphocytic infiltration. This case highlights a 29-year-old Caucasian man with vitiligo found to have significant neurological abnormalities in the setting of newly diagnosed pernicious anemia and thyroid autoimmune disease.

OBJECTIVES: To describe the real-world experience of eculizumab use in patients with catastrophic antiphospholipid syndrome (CAPS) according to the information provided by the "CAPS Registry". METHODS: We analyzed the demographic, clinical and immunological data from all the patients included in the "CAPS Registry" treated with eculizumab and described the indications for eculizumab administration, dose, outcome, use of prophylactic vaccines and adverse effects...

Introduction - Autoimmune polyglandular syndrome (APS) is a condition having multiple endocrine abnormalities. It is divided into three types depending on the involvement of various endocrinopathies. It is also associated with other systemic involvement. The basic pathophysiology of this syndrome revolves around autoimmunity. Case Presentation - We present a 50 year old gentleman who presented to us in emergency with subacute onset progressive weakness of both lower limbs followed by upper limbs. On examination, patient was confused and disoriented...

Systemic autoimmune and inflammatory diseases have a complex and only partially known pathophysiology with various abnormalities involving all the components of the immune system. Among these components, antibodies, and especially autoantibodies are key elements contributing to autoimmunity. The interaction of antibody fragment crystallisable (Fc) and several distinct receptors, namely Fc receptors (FcRs), have gained much attention during the recent years, with possible major therapeutic perspectives for the future...

Antiphospholipid syndrome (APS) is an autoimmune disorder that causes venous, arterial and small-vessel thrombosis, pregnancy loss, and premature birth. Cardiac valvular disease, renal thrombotic microangiopathy, thrombocytopenia, hemolytic anemia, and cognitive impairment are some of its other clinical symptoms. Antiphospholipid antibodies cause endothelial cells, monocytes, and platelets to become activated, as well as an increase in tissue factor and thromboxane A2. Complement activation might play a key function in pathogenesis...

Bleeding gastrointestinal angiodysplasia may occur in patients with vasculitis and can be challenging to treat. We describe the novel use of bevacizumab therapy to treat bleeding gastrointestinal angiodysplasia and severe anemia in a patient with eosinophilic granulomatosis with angiitis complicated by antiphospholipid antibody syndrome requiring indefinite warfarin therapy. Studies confirmed multiple bleeding jejunal angiodysplasias unamenable to endoscopic intervention, and the patient required ongoing support with iron infusions and blood transfusions to maintain a minimally acceptable hemoglobin...

BACKGROUND: Kidney involvement is a frequent complication of systemic lupus erythematosus (SLE) and kidney biopsy is essential in differentiating lupus nephritis (LN) from thrombotic microangiopathy (TMA) secondary to antiphospholipid autoantibodies (aPL). Association between antiphospholipid syndrome (APS) and acquired hemophilia due to inhibitors was very rarely described in SLE patients. CASE PRESENTATION: We present the case of a 61-year-old male diagnosed with SLE who acquired deficiency of clotting factor VIII due to circulating inhibitors, admitted for acute kidney injury (AKI), microangiopathic hemolytic anemia, thrombocytopenia, and diplopia...

Antiphospholipid syndrome (APS) is managed with warfarin for secondary prophylaxis in patients who have had a thrombotic event in the past. Warfarin has been deemed superior to novel oral anticoagulants in preventing venous and arterial thrombosis in conjunction with aspirin. The catastrophic variant of APS (CAPS) is very rarely reported, especially in those who have been on a therapeutic dose of warfarin therapy. We present a rare case of CAPS in a patient with a history of APS who had been on a therapeutic dose of warfarin along with aspirin therapy...

Cohen syndrome is an autosomal recessive disorder with the primary symptoms of mental deficiency, progressive retinopathy, hypotonia, microcephaly, obesity of midchildhood onset, intermittent neutropenia, and dysmorphic facial features. The syndrome has high phenotypic heterogeneity and is caused by loss-of-function mutations in the VPS13B gene. Here, we introduce a novel homozygous nonsense mutation (c.8698G > T, p.E2900X) in the VPS13B gene in an 11-year-old Iranian boy with major symptoms of Cohen syndrome...

In 2007 and 2009, the regulatory approval of the first-in-class complement inhibitor eculizumab revolutionized the clinical management of 2 rare, life-threatening clinical conditions: paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). Although being completely distinct diseases affecting blood cells and the glomerulus, PNH and aHUS remarkably share several features in their etiology and clinical presentation. An imbalance between complement activation and regulation at host surfaces underlies both diseases precipitating in severe thrombotic events that are largely resistant to anticoagulant and/or antiplatelet therapies...

BACKGROUND: Antiphospholipid syndrome (APS) is a systemic autoimmune disease, characterized by arterial or venous thrombosis and/or obstetric events in the presence of antiphospholipid antibodies (aPL). It is usually diagnosed in patients between the ages of 15 and 50 years, and there are 5 new cases per 100,000 people per year. It is reported a case of APS, which it is present in an older adult with an unusual clinical manifestation. CLINICAL CASE: Female patient without history of autoimmune diseases, at age 70 presented hemolytic anemia, Coombs direct positive, classified as autoimmune hemolytic anemia (AHAI) Coombs+, and severe thrombocytopenia...

BACKGROUND: According to criteria for the classification of Systemic Lupus Erythematosus (SLE), autoimmune hemolytic anemia is one of the disease-defining hematologic disorders together with thrombocytopenia. Since the recognition of Antiphospholipid Syndrome (APS), hemolytic anemia was frequently reported but several studies yielded contradictory results on the association between antiphospholipid antibodies (aPL) and hemolytic anemia. Therefore, we evaluated the association of aPL and autoimmune hemolytic anemia in SLE patients by conducting a systematic review and meta-analysis of available literature...

No abstract text is available yet for this article.

Pediatric cerebral venous sinus thrombosis (CVST) is rare but a potentially fatal disease requiring its understanding in local setting. In this study, we observed the clinical course, management, and outcome of pediatric patients with sinus thrombosis in a tertiary care center at Pakistan. Patients between age 0 to 18 years of both genders diagnosed with sinus thrombosis during 2011 to 2020 were included. Data was collected through in-house computerized system and SPSS version 19 was used for analysis. Of 143492 pediatric admissions, 32 (21 males and 11 females) patients with a median (IQR) age of 4...

OBJECTIVE: To analyze whether immune-mediated diseases (IMDs) occurs in sarcoidosis more commonly than expected in the general population, and how concomitant IMDs influence the clinical presentation of the disease. METHODS: We searched for coexisting IMDs in patients included in the SARCOGEAS-cohort, a multicenter nationwide database of consecutive patients diagnosed according to the ATS/ESC/WASOG criteria. Comparisons were made considering the presence or absence of IMD clustering, and odds ratios (OR) and their 95% confidence intervals (CI) were calculated as the ratio of observed cases of every IMD in the sarcoidosis cohort to the observed cases in the general population...