• Neurological Autoimmune Diseases
• Demyelinating Diseases Clinical Trials
• Prevention & Screening

The increased risk of a different autoimmune disorder occurring in the families of individuals who develop multiple sclerosis (MS) is well-recognized [Barcellos LF et al. Lancet Neurol 2006]. Such findings imply that certain genetic variants may increase susceptibility to autoimmune disease in general as opposed to influencing the development of one specific condition [International Multiple Sclerosis Genetics Consortium. Genes Immun 2009]. A. Kuqo, University Neurology Service, Tirana, Albania, presented a case report of two sisters diagnosed with MS, one of whom developed sarcoidosis.

A 46-year-old female was diagnosed 12 years earlier with relapsing-remitting MS according to McDonald Criteria [Polman CH et al. Ann Neurol 2011]. Treatment with ß-interferon for a consecutive period of nine years significantly reduced relapses. Neurological conditions were stable, and the patient had a score of 3 on the Kurtzke Expanded Disability Status Scale. The patient's sister, also diagnosed with MS, was being treated by the same team. Three years prior, the original patient complained of arthralgia, conjunctivitis, and dry mouth. Immunological and biochemical laboratory studies were positive for sarcoidosis, a multisystem granulomatous disease that affects adults between 20 and 50 years old [Lopez V et al. Int J Dermatol 2011].

Although available epidemiological data confirm that genetic factors are unequivocally relevant in MS, large extended families with multiple affected individuals are extremely uncommon [Sawcer S. Ann Indian Acad Neurol 2009]. Most families contain no more than two or three affected individuals and no clear mode of inheritance can be inferred [Sawcer S. Ann Indian Acad Neurol 2009].

These data suggest that genetic susceptibility to autoimmune disease may be a mosaic of common sets of pleiotropic alleles as well as effects specific to one or a few diseases [IMSGC. Genes Immun 2009]. Further research is warranted to unravel the puzzle.

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