Autoimmune Anaemia

Autoimmune haemolytic anaemia (AIHA) is an acquired heterogenous clinical entity with variable presentations like acute haemolysis or mild, chronic haemolysis compounded with acute exacerbation in winters or fatal uncompensated haemolysis. A step-wise approach to the diagnosis and characterisation of AIHA should be undertaken, firstly the diagnosis of haemolysis followed by the establishment of immune nature with the aid of direct agglutination tests (DAT). Simultaneously the other causes of immune haemolysis need to be excluded too...

Autoimmune haemolytic anaemia (AIHA) is a common term for several disorders that differ from one another in terms of aetiology, pathogenesis, clinical features, and treatment. Therapy is becoming increasingly differentiated and evidence-based, and several new established and investigational therapeutic approaches have appeared during recent years. While this development has resulted in therapeutic improvements, it also carries increased medical and financial requirements for optimal diagnosis, subgrouping, and individualization of therapy, including the use of more advanced laboratory tests and expensive drugs...

Autoimmune cytopenias are defined by autoantibodies' immune destruction of one or more blood elements. Most often it is autoimmune hemolytic anemia or immune thrombocytopenia or both that define Evans syndrome. It may be secondary to infection or to underlying pathology such as systemic autoimmune disease or primary immunodeficiency, especially when it becomes chronic over several years. Primary Immunodeficiencies or inborn errors of immunity (IEI) are no longer defined solely by infections: autoimmunity is part of the clinical features of several of these diseases...

A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up for inherited thrombophilia, antiphospholipid syndrome (APLS) and paroxysmal nocturnal haemoglobinuria were unremarkable. Investigations revealed autoimmune thyroid disease, and a mixed iron/vitamin B12 deficiency due to pernicious anaemia and resultant atrophic gastritis. Hyperhomocysteinaemia due to vitamin B12 deficiency was identified as a potential contributor to her recurrent VTE...

BACKGROUND: Systemic lupus erythematosus (SLE) is a clinically heterogeneous autoimmune disease that is associated with great suffering for those affected, as well as high socioeconomic costs. Early diagnosis and adequate medical care are essential for a mild course of the disease. However, there is a lack of current figures and data on the care situation of patients in the area. METHODOLOGY: A total of 1546 general practitioners, rheumatologists, neurologists, nephrologists and dermatologists in Rhineland-Palatinate and Saarland were interviewed by fax or mail using a questionnaire regarding epidemiology, symptoms, therapy and therapy success...

Zeta-chain associated protein kinase 70 kDa (ZAP-70) deficiency is one of the rare immunodeficiency disorders due to autosomal recessive homozygous or compound heterozygous loss-of-function mutations in the ZAP-70 GENE In the literature, patients with ZAP-70 deficiency have been reported with a broad spectrum of clinical manifestations including recurrent respiratory infections (81.8%), cutaneous involvement (57.9%), lymphoproliferation (32.4%), autoimmunity (19.4%), enteropathy (18.4%) and increased risk of malignancies (8...

We present the case of a 70-year-old woman presenting with nausea, diarrhoea and a generalised rash. Initial blood tests revealed obstructive deranged liver function tests and low haemoglobin. A haemolysis screen revealed raised reticulocytes, low haptoglobin and a positive direct antiglobulin test. 6 days into her admission, she developed lower limb weakness and loss of sensation. MRI spine showed no significant findings. Cerebrospinal fluid showed raised white blood cell count and raised protein. Nerve conduction studies were normal...

Discerning the type of autoimmune haemolytic anaemia (AIHA) is crucial for transfusion support and initiation of treatment. This study aimed to establish the clinical profile and serological character of red cell autoantibodies and to investigate the relationship with haemolysis in AIHA patients who were direct antiglobulin test (DAT)-positive. A total of 59 DAT-positive AIHA patients were included in this study. Clinical, laboratory and serological findings were evaluated to find the gradation of haemolysis and to investigate its correlation with age, sex, type of autoantibody and level of autoantibody...

BACKGROUND: Most patients with chronic lymphocytic leukaemia progress after treatment or retreatment with targeted therapy or chemoimmunotherapy and have limited subsequent treatment options. Response levels to the single-agent venetoclax in the relapsed setting is unknown. We aimed to assess venetoclax activity in patients with or without previous B-cell receptor-associated kinase inhibitor (BCRi) treatment. METHODS: This multicentre, open-label, single-arm, phase 3b trial (VENICE-1) assessed activity and safety of venetoclax monotherapy in adults with relapsed or refractory chronic lymphocytic leukaemia, stratified by previous exposure to a BCRi...

UNLABELLED: Castleman's disease (CD) and thrombotic thrombocytopenic purpura (TTP) are rare diseases that can affect the general population, especially those with HIV. Owing to their rarity, the association between CD and TTP remains insufficiently understood. In this study, we present a case of a 53-year-old patient with controlled HIV infection who presented with fever, lymphadenopathy, severe anaemia, and thrombocytopenia. After a series of tests, the diagnosis was concurrent human herpesvirus 8 (HHV8)-related multicentric CD (MCD) and TTP...

INTRODUCTION: During treatment for malignant lymphoma, cytopenia can develop for several reasons. This can range from mild cytopenias leading to infection and bleeding to full-blown drug-induced aplastic anaemia. While aplastic anaemia affects individuals of all genders and ages, here, we describe aplastic anaemia after chemotherapy exposure to bendamustine in a 65-year-old female with non-Hodgkin's lymphoma. CASE DESCRIPTION: A 65-year-old woman with recurrent indolent marginal zone lymphoma and post-chemotherapy with bendamustine and rituximab, presented with a neutropenic fever and was admitted with a leading diagnosis of sepsis...

Aplastic anaemia is often associated with recent viral illnesses to include EBV and parvovirus along with certain medications such as anticonvulsants and sulfa containing antibiotics. We describe a case report of a female patient in her 70s who presented with pancytopenia after being treated with nitrofurantoin and ciprofloxacin for suspected urinary tract infection. She underwent an extensive workup to rule out alternative aetiologies of her pancytopenia to include a broad viral, autoimmune and malignancy evaluation which were unrevealing...

OBJECTIVES: The association of systemic lupus erythematosus (SLE) and human immunodeficiency virus (HIV) remains scarcely described in the literature. Our objectives were to describe the characteristics of SLE in patients living with HIV (SLE-PLHIV) and compare it with SLE characteristics in patients without HIV infection. METHODS: We performed a retrospective study of 13 patients with SLE-PLHIV diagnosed between 1975 and 2020 in four different French hospitals...

BACKGROUND: Mixed connective tissue disease (MCTD) is characterized by high titres of distinct antibodies: U1 ribonucleoprotein with variable clinical features seen in rheumatoid arthritis, systemic lupus erythematosus, scleroderma, polymyositis, and dermatomyositis. Limited case reports revealed the association between MCTD and cancer, like lymphoma, lung cancers, and others. CASE PRESENTATION: A 22-year-old female presented with enlargement of the abdomen and oedema of the lower extremities, gradually started 25 days The patient had been diagnosed to have rheumatoid arthritis...

INTRODUCTION AND IMPORTANCE: Iron overload is an abnormal accumulation of iron in parenchymal organs that leads to end-organ damage which could be either primary or secondary to repeated blood cell transfusion, its manifestations usually start in middle age and rarely in childhood. CASE PRESENTATION: The authors present a rare case of an 11-year-old male with iron overload secondary to repeated packed blood transfusion for autoimmune haemolytic anaemia. He developed type 1 diabetes, pituitary atrophy, and hepatic injury...

PURPOSE OF REVIEW: Adult small bowel intussusception (SBI) differs in incidence, symptomatology and management from the more commonly encountered paediatric intussusception. This review spans across the multitude of causes of adult SBI, and summarises the diagnostic work-up and management options according to recent literature. RECENT FINDINGS: There has been an increase in use of small bowel capsule endoscopy and point-of-care ultrasound for the diagnosis of acute adult SBI...

Dental caries is a bacteria-mediated, multifactorial, chronic progressive disease that results in the phasic demineralization and remineralization of dental hard tissues. In recent years, amounts of studies have focused on the association between dental caries and systemic diseases. This paper reviews the researches about associations between caries and systemic diseases. An electronic search was conducted in PubMed and Web of Science for articles published from 2003 to 2022 in the English language. Studies were included in the following ten categories of systemic diseases: cardiovascular diseases, metabolic disorders, respiratory diseases, autoimmune rheumatic diseases, neurologic diseases, gastrointestinal diseases, kidney diseases, skin diseases, iron deficiency anaemia and tumors...

Sweet syndrome is a neutrophilic dermatosis associated with multiple disorders. This retrospective case-series study of patients with Sweet syndrome in a tertiary hospital in Spain from 2001 to 2021, explores clinicopathological characteristics of Sweet syndrome and variables associated with malignancy, presence of autoinflammatory disorders and differences between histological subtypes. A total of 93 patients were identified: 30% idiopathic, 34% malignancy-associated, 29% reactive to infections or drug-associated, and 6% with an autoimmune/inflammatory condition...

Primary autoimmune haemolytic anaemia (AIHA) causes the destruction of red blood cells and a subsequent pro-thrombotic state, potentially increasing the risk of ischaemic stroke. We investigated the risk of ischaemic stroke in patients with AIHA in a binational study. We used prospectively collected data from nationwide registers in Denmark and France to identify cohorts of patients with primary AIHA and age- and sex-matched general population comparators. We followed the patient and comparison cohorts for up to 5 years, with the first hospitalization of a stroke during follow-up as the main outcome...

Autoimmune diseases, including SSc, are prevalent, affecting autologous connective tissues and caused by the breakdown of self-tolerance mechanisms of the immune system. During the last 2 decades, stem cell therapy has been increasingly considered as a therapeutic option in various diseases, including Parkinson's disease, Alzheimer's disease, stroke, spinal cord injury, multiple sclerosis, inflammatory bowel disease, liver disease, diabetes, heart disease, bone disease, renal disease, respiratory disease and haematological abnormalities such as anaemia...