Familial Sarcoidosis: An Analysis of Twenty-Eight Cases

Objective: Sarcoidosis is a multisystemic disease, exact cause of disease is unknown but it is assumed that genetic predisposition and ethnic factors play a role in etiology. Studies related with familial sarcoidosis is limited and only case reports about familial sarcoidosis is available from our country. We aimed to evaluate the prevelance of familial sarcoidosis and clinical findings of cases with familial sarcoidosis.
Methods: We retrospectively documented file records of 678 patients diagnosed with sarcoidosis and followed up in outpatient clinic of sarcoidosis from January 1996 to February 2016. 28 familial sarcoidosis cases in 14 families were enrolled into the study. Their demographic findings, family relationship, symptoms, laboratory and pulmonary function test results, radiological apperances, diagnostic methods, treatments were recorded.
Results: Twenty-eight sarcoidosis patients out of 678 reported as familial cases, giving a prevelance of familial sarcoidosis as 4%. There were 8 sarcoidosis sib, 4 sarcoidosis mother-child, 1 sarcoidosis father-child and 1 sarcoidosis cousin relationship. Female/male ratio was 1.8, mean age of the study population was 43, most freguent symptoms were cough and dyspnea, stage 2 was mostly seen according to chest X-ray, most common CT appearance was mediastinal lymphadenopathy and mediastinoscopy was the most freguent diagnostic method.
Conclusion: This study is important to lead interrogation of family in patients with suspected sarcoidosis and future studies investigating familial aggregation in sarcoidosis.