Multiple Autoimmune Syndrome: An Unusual Combination of Autoimmune Disorders

Background: Autoimmune diseases are multifactorial with environmental and heritable factors. Autoimmunity reflects an altered immune status therefore presence of more than one disorder is not uncommon. 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, responded well to gluten free diet. Family history was unremarkable for any autoimmune disorder. Laboratory workup showed normal complete blood count, markedly elevated transaminases and alkaline phosphates. Her antinuclear antibodies (ANA) test was strongly positive (>1:320) and showed anticentromere pattern. Anti-extractable nuclear antibody(ENA) assay showed anti-mitochondrial and anti-CENP B antibodies. Liver biopsy revealed overlap syndrome (primary biliary cirrhosis and autoimmune hepatitis) This patient had celiac disease, primary biliary cirrhosis 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 revaluation of the patients 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 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 for 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 better understanding of disorders related to breakdown of immune tolerance.

Keywords: CREST Syndrome; Celiac Disease; Multiple Autoimmune Syndrome; Primary Biliary Cholangitis; anti-centromere pattern.; antinuclear antibodies (ANA).