Multiple Autoimmune Syndrome: An Unusual Combination of Autoimmune Disorders

Abstract

Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status, therefore the presence of more than one disorder is not uncommon. The coexistence of three or more autoimmune diseases in a patient constitutes multiple autoimmune syndrome (MAS). This is an interesting case of a middle-aged female who had celiac disease, primary biliary cholangitis, autoimmune hepatitis and evolving CREST (Calcinosis, Rhaynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasia) syndrome.

Case report: Fifty years old female patient presented with generalized fatigue, fever, weight loss, vertigo and constipation. She was a diagnosed case of celiac disease, and responded well to glutenfree diet. Family history was unremarkable for any autoimmune disorder. Laboratory workup showed normal complete blood counts, markedly elevated transaminases and alkaline phosphates. Her antinuclear antibodies (ANA) test was strongly positive (>1:320) and showed an anti-centromere pattern. Anti-extractable nuclear antibody(ENA) assay showed anti-mitochondrial and anti- CENP B antibodies. Liver biopsy revealed overlap syndrome (primary biliary cholangitis and autoimmune hepatitis). This patient had celiac disease, primary biliary cholangitis and autoimmune hepatitis. Extensive immunological workup unexpectedly revealed the presence of anti-centromere protein B (anti-CENP B) antibodies which are strongly associated with CREST syndrome. Clinical re-evaluation of the patient gave clues of the evolving CREST syndrome. This case report highlights the importance of adequate immunological investigations in conjunction with clinical information for adequate patient management to achieve favorable consequences in the future.

Conclusion: Patients suffering from an autoimmune disease need special attention as multiple immune- mediated disorders may be present simultaneously or sequentially during the course of the disease process. MAS patients are at a higher risk of acquiring infections and tumor development due to prolonged use of immunosuppressants. These patients need close surveillance for the development of another autoimmune disease, so as to control the current disease and to prevent future complications. This case report emphasizes the importance of a multidisciplinary team approach including an immunologist who may facilitate a better understanding of disorders related to the breakdown of immune tolerance.

Keywords: CREST syndrome; Celiac disease; anti-centromere pattern; antinuclear antibodies (ANA); multiple autoimmune syndrome; primary biliary cholangitis (PBC).