Evans syndrome and primary biliary cirrhosis

Primary biliary cirrhosis associated with autoimmune haemolytic anaemia and thrombocytopaenia has rarely been reported in adults. We are presenting an 83-year-old woman with primary biliary cirrhosis who was also diagnosed with autoimmune haemolytic anaemia and idiopathic thrombocytopaenic purpura.     

Polyautoimmune syndrome in common variable immunodeficiency

Abstract. Common variable immunodeficiency (CVI) is a heterogenous disorder with hypogammaglobulinaemia and multiple bacterial infections primarily involving the sinopulmonary tract. CVI patients have been known to have an increased tendency to develop autoimmune manifestations. Commonly associated autoimmune diseases include immune thrombocytopenic purpura, autoimmune haemolytic anaemia, and rheumatoid arthritis. In this paper we report a case of CVI presenting with multiple unusual autoimmune diseases including parotitis, vitiligo, atrophic gastritis, pernicious anaemia, and primary biliary cirrhosis. To our knowledge, this is the first case of CVI with polyautoimmunity and anti-mitochondrial antibody. Recognition of this association is important because early diagnosis and treatment can greatly influence the prognosis.     

Bullous pemphigoid,primary biliary cirrhosis and vitiligo: a multiple autoimmune syndrome?

Bullous pemphigoid is the most frequent autoimmune blistering skin disease. There have been few reports of an association with primary biliary cirrhosis and vitiligo. We report the simultaneous occurrence of bullous pemphigoid and primary biliary cirrhosis in an 86-year-old patient who also suffered from vitiligo. Multiple autoimmune syndrome, proposed by Humbert and Dupond, can be divided into three groups based on preferential associations of autoimmune disorders. The association of bullous pemphigoid, cirrhosis biliary primary and vitiligo has been reported three times in the literature. This association is probably not fortuitous and suggests a pathogenic relationship. This association is not typical of the multiple autoimmune syndrome as defined by Humbert and Dupond but the collection of such observations may contribute to revise the classification of autoimmune disease and provide a better understanding of the pathophysiological mechanisms of autoimmunity.     

Multiple autoimmune syndromes

The possibility of three or more autoimmune diseases occurring in the same patient cannot be fortuitous and suggests a pathogenic relationship between each of them. In the light of 4 personal cases, the authors have recorded 87 reports of such associations in the literature, an analysis of which leads them to propose a classification of three types of multiple autoimmune syndrome. The grouping of these syndromes under a single heading should make the research and analysis of these morbid associations easier. Moreover, the classification adopted by the authors allows a more precise definition of patients with at least two autoimmune diseases and so helps to recognize the onset of a third autoimmune disease at a later date. Multiple autoimmune syndromes can be classified in 3 groups according to the prevalence of their associations one with another. Type I comprises myasthenia, thymoma, polymyositis and giant cell myocarditis, this association having a single pathogenic mechanism. Type II includes the Sj?gren's syndrome, rhumatoid arthritis, primary biliary cirrhosis, scleroderma and autoimmune thyroid disorders. Type III groups together 10 autoimmune diseases (autoimmune thyroid disease, myasthenia and/or thymoma, Sj?gren's syndrome, pernicious anaemia, idiopathic thrombocytopaenic purpura, Addison's disease, insulin-dependent diabetes, vitiligo, autoimmune haemolytic anaemia, systemic lupus erythematosus) for which a genetic predisposition (phenotype HLA B8 and/or DR3 or DR5) seems to be an important factor.     

Primary biliary cirrhosis: When and why does the disease develop?

Primary biliary cirrhosis is a chronic cholestatic liver disease with an autoimmune pathogenesis, that generally develops in adult life, often in perimenopausal age. The clinical features are heterogeneous, ranging from an asymptomatic presentation to end-stage liver disease. Primary biliary cirrhosis is unknown in children and its natural history has yet to be elucidated. Following a Canadian report of primary biliary cirrhosis in two girls (16 and 15 years old), we describe a clinical case developing at 17 years of age. A temporal association between Borrelia Burgdorferi infection and diagnosis of primary biliary cirrhosis was observed.     

Autoimmune haemolysis as an unusual cause of anaemia in von Recklinghausen's disease

Von Recklinghausen's disease, now classified as neurofibromatosis type 1 (NF-1), is a relatively frequent autosomal dominant disorder and has clinical manifestations, such as cafe-au-lait spots, freckling, generalised cutaneus neurofibroma, Lisch nodules, short stature, optic glioma and central nervous system tumours. In adults, anaemia in the course of NF-1 is usually due to gastrointestinal tumour bleeding. Association of NF-1 and autoimmune haemolytic anaemia is unusual. Here, we report a 48-year-old woman with NF-1 presenting as autoimmune haemolytic anaemia. We also reviewed the literature about the association of NF-1 and autoimmune diseases.     

Association cirrhose biliaire primitive et maladie de Biermer. �� propos d��une nouvelle observation

Primary biliary cirrhosis is often associated with autoimmune diseases. However, its association with pernicious anemia has rarely been reported. We report a case of a 68-year-old woman who presented jaundice and pruritus. Mildly elevated serum levels of alkaline phosphatase and g-glutamyl transpeptidase were detected. The titer of anti-mitochondrial M2 antibody was elevated. Histology of liver biopsy showed features of primary biliary cirrhosis. She presented also a macrocytic anemia. The diagnosis of pernicious anemia was confirmed by the low level of serum vitamin B12 and the presence of anti-parietal cell antibody and anti-intrinsic factor antibody. The association of primary biliary cirrhosis and pernicious anemia may be explained by an autoimmune mechanism commonly shared by the two diseases.     

Autoimmune haemolytic anaemia triggered by Bartonella henselae infection: a case report

Bartonella henselae is a hitherto unidentified cause of autoimmune haemolytic anaemia. Here we report a case of Coombs-negative autoimmune haemolytic anaemia. The episode was preceded by exposure to a cat and a non-specific infectious syndrome. Concomitant serum titres of B. henselae antibodies were indicative of a recent infection. The case report suggests that B. henselae infection can trigger secondary autoimmune haemolytic anaemia.     

Primary biliary cirrhosis and hemolytic anemia confusing serum bilirubin levels.

Hemolysis is observed in more than 50% of patients with cirrhosis. However, there has been little documentation of the association of primary biliary cirrhosis with autoimmune hemolytic anemia. Two cases, found within a single practice, of primary biliary cirrhosis coexisting with autoimmune hemolysis and a third case coexisting with hereditary spherocytosis are presented. Anemia in such patients is commonly attributed to chronic disease, and hyperbilirubinemia is attributed to primary biliary cirrhosis. These patients were considered for liver transplantation until the diagnosis of a comorbid hemolytic process was established. This association may be more prevalent than previously recognized. A diagnosis of comorbid hemolysis must always be considered in context with anemia and serum bilirubin levels that rise out of proportion to the severity of the primary biliary cirrhosis.     

A case of primary Sjögren’s syndrome complicated by Graves’ disease and primary biliary cirrhosis

A patient with primary Sjögren’s syndrome (SS) who developed Graves’ disease and primary biliary cirrhosis (PBC) is described. Co-existence of these three organ-specific autoimmune diseases has been identified based on the findings of clinical and pathological examination. Although the association of SS with Hashimoto’s thyroiditis or PBC has been well recognized, the association of SS with Graves’ disease is quite rare. Therefore, this may be the first report describing the coexistence of these three organ-specific autoimmune diseases in the same patient.     

Overlap syndrome of primary biliary cirrhosis and autoimmune hepatitis with unusual initial presentation as fulminant hepatic failure

Autoimmune hepatitis and primary biliary cirrhosis are generally easy to discriminate on the basis of clinical, laboratory, and histological findings. The presence of anti-mitocondrial antibodies seropositivity and cholestatic clinical, laboratory, and/or histological features in patients with autoimmune hepatitis indicates the overlap syndrome of autoimmune hepatitis and primary biliary cirrhosis. Fulminant hepatic failure is an unusual initial form of presentation of autoimmune hepatitis and primary biliary cirrhosis overlap syndrome. We report the case of a 50-year-old woman with autoimmune hepatitis and primary biliary cirrhosis overlap syndrome who presented with fulminant hepatic failure. Fulminant hepatic failure has a high mortality rate and may require liver transplant. Our patient revealed a good response to corticosteroid and ursodeoxycholic acid therapy. It is important to identify and distinguish autoimmune hepatitis and variant syndromes from other forms of liver disease because of response to corticosteroid therapy.     

Rituximab for the treatment of autoimmune cytopenias in children with immune deficiency

Autoimmune cytopenias are well recognised in patients with primary immune deficiency, but treatment may be difficult. We report eight children with autoimmune cytopenias (autoimmune haemolytic anaemia, autoimmune thrombocytopenia, autoimmune neutropenia) complicating immune deficiency states (common variable immunodeficiency, Wiskott-Aldrich Syndrome, autoimmune lymphoproliferative syndrome, combined immunodeficiency) treated with between 1 and 3 courses of rituximab (anti-CD20). Responses occurred for 90% of treatments but relapse rates (after a median of 53 weeks) were high (78%). We conclude that rituximab is an effective treatment for autoimmune cytopenias in children with immune deficiencies, but repeated courses of treatment may be needed.     

Chronic viral C hepatitis associated with primary biliary cirrhosis. Report of two cases

Chronic viral hepatitis C is often associated with various autoimmune disorders. We report two patients infected by genotype 1b hepatitis C virus associated with primary biliary cirrhosis. These patients had anicteric cholestasis associated with cytolysis and positivity of M2 antimitochondrial antibodies at a titre of 1/200. Liver biopsy revealed chronic hepatitis in one case and histological pattern of primary biliary cirrhosis in the other. One patient was treated by antiviral therapy; the other only by ursodesoxycholic acid because of the association with hemolytic anemia. Association between primary biliary cirrhosis and chronic viral hepatitis C is uncommon and associated with diagnostic and therapeutic challenges.     

Case Report: Severe cholestatic jaundice induced by Epstein-Barr virus infection in the elderly

Infectious mononucleosis due to Epstein-Barr virus (EBV) is almost always a self-limited disease, most commonly seen in young adults. Hepatitis is a well-recognized complication of EBV infection that usually resolves spontaneously. Jaundice occasionally results from the unusual complication of autoimmune haemolytic anaemia rather than hepatitis. We report a 60-year-old man with severe cholestatic jaundice whose history, liver histology and laboratory findings suggested EBV infection. He also developed significant jaundice related to his hepatitis, but not to autoimmune haemolysis, a situation that led to diagnostic delay. Costly diagnostic laboratory tests and invasive procedures were performed to rule out a malignant extrahepatic biliary obstruction. Physicians need to be aware of this complication and EBV infection should be included in the differential diagnosis of cholestatic jaundice in the elderly.     

Co-existence of primary biliary cirrhosis and primary sclerosing cholangitis: a rare overlap syndrome put in perspective

Overlap syndromes between autoimmune hepatitis and both primary biliary cirrhosis and primary sclerosing cholangitis are well described, but overlap between primary biliary cirrhosis and primary sclerosing cholangitis is not recognized. We present two cases of an unusual autoimmune liver disease, both of which included an overlap between primary biliary cirrhosis and primary sclerosing cholangitis, while one had features of all three conditions. The diagnoses were based on clinical, biochemical, serological, histological and cholangiographic findings. The two cases were identified from a consecutive cohort of 261 patients with autoimmune liver disease followed prospectively in secondary care over a 20-year period, which gives perspective to this uncommon overlap syndrome.     

Acetylcholine receptor antibody positive generalized myasthenia gravis in association with primary biliary cirrhosis

Primary Biliary Cirrhosis and Myasthenia Gravis are both autoimmune conditions, however, there are only rare case reports of their association. This is a case report of acetylcholine receptor antibody positive generalized myasthenia gravis in a female patient with antimitochondrial antibody positive, liver biopsy-confirmed primary biliary cirrhosis.     

A patient with primary biliary cirrhosis associated with autoimmune hemolytic anemia

Primary biliary cirrhosis is often associated with autoimmune conditions, such as thyroid disease, sicca complex, and rheumatoid arthritis. However, an association with autoimmune hemolytic anemia has rarely been reported. We present a case of primary biliary cirrhosis associated with warm type autoimmune hemolytic anemia, and we review prior reports. Received: December 7, 1998 / Accepted: June 25, 1999     

Auto-immune haemolytic anaemia and Crohn's disease: a case report and review of the literature

The association between ulcerative colitis and auto-immune haemolytic anaemia is well described. However, only two cases of auto-immune haemolytic anaemia occurring in association with Crohn's disease have been described in the literature. We report on a third case and discuss the importance of diagnosis and the therapeutic implications of this association.     

A case of primary Sjögren’s syndrome complicated by Graves’ disease and primary biliary cirrhosis

Abstract

A patient with primary Sjögren’s syndrome (SS) who developed Graves’ disease and primary biliary cirrhosis (PBC) is described. Co-existence of these three organ-specific autoimmune diseases has been identified based on the findings of clinical and pathological examination. Although the association of SS with Hashimoto’s thyroiditis or PBC has been well recognized, the association of SS with Graves’ disease is quite rare. Therefore, this may be the first report describing the coexistence of these three organ-specific autoimmune diseases in the same patient.     

Cutaneous amyloidosis associated with autoimmune hepatitis-primary biliary cirrhosis overlap syndrome

Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.