Atypical Takayasu arteritis: a family with five affected siblings.

Background: Takayasu disease is a giant cell arteritis, primarily affecting the aorta and its main branches, particularly over the first 1.5 cm. It is more common in South-East Asian countries and in young females, whose clinical manifestations range from asymptomatic to catastrophic neurological impairment.

Case Report: We report on a Pakistani family in which five of seven siblings, aged 12 to 19 years, are affected with atypical Takayasu arteritis. The proband is a 14-year-old male who presented with sudden, painless loss of vision. He was found to have absent pulses, retinal changes and magnetic resonance angiography (MRA) findings diagnostic of Takayasu arteritis. In addition, though, he had decreased intraocular pressure, murmur of mitral valve prolapse, as well as atypical involvement of the aorta as visualized in MRA and decreased renal blood flow; these last three findings are not usual features of the disease. The unique involvement in the aorta indicates that this patient corresponds to yet another sub-type in the angiographic classification of TA. Four siblings of the proband are asymptomatic but fulfill the diagnostic criteria of the American College of Rheumatology. This is the first reported multiplex family with Takayasu arteritis, in which more than two members meet the diagnostic criteria.

Conclusions: Previous reports indicate possible HLA associations of Takayasu disease in Japanese patients. Our present study indicates both that there may be clinical and etiological heterogeneity in Takayasu disease, and the possibility that an autosomal recessive form of the disease exists.