ABSTRACT

Takayasu’s arteritis is a granulomatous arteritis that primarily affects the major branches of the aortic arch and aortic arch itself. Genetic factors and immunological mechanisms play an important role in its etiology. It has been reported that familial predisposition may be related to the HLA-B*52 allele and tumor necrosis factor-α-308 A/G polymorphism. Our aim is to present two cases including 25- and 28-year-old sisters who were diagnosed with Takayasu’s arteritis. A 25-year-old female patient was admitted to our clinic with the findings of pulsatile mass, which had been in the right supraclavicular region for about 2 weeks, and Horner syndrome. Blood pressure and pulse difference between upper extremities, murmur on left subclavian artery trace and elevated sedimentation were determined. Aortography showed an aneurysmatic filling between the right subclavian artery, vertebral artery and carotid artery. Steroids, methotrexate and azathioprine (due to methotrexate-related side effects) were started and the patient with a complete response is still in our clinic. A 28-year-old female patient is being followed with the diagnosis of Takayasu’s arteritis and she is the older sister of the first case. Takayasu’s arteritis was diagnosed at the age of 15 years and the disease appeared with headache, dizziness and syncope. The patient with a complete response to the disease is still being followed up in our clinic with steroid, methotrexate and folic acid treatments. Familial associations defined in Takayasu’s arteritis have been reported as case reports. In a case report, the detection of Takayasu’s arteritis in five of the seven siblings suggests that the disease has a genetic origin. Siblings with Takayasu’s arteritis may present with different clinical findings and the onset of the disease can be at different ages. Our cases are important in terms of drawing attention to familial association in the disease.