Familial Sarcoidosis: An Analysis of Twenty-Eight Cases

Abstract

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.

PET/CT findings in sarcoidosis: Analysis of 53 cases

“…ACCESS çalışmasında kadın/erkek oranı 1.77, ülkemizden yapılan çalışmalarda 3.1, 2.08 iken, çalışmamızda bu oran 4.3 olarak daha yük-sek bulunmuştur 1,6,7 . Olgularımızın ortalama yaşı 51 olarak, literatürdeki değerlerin üzerinde bulundu 7,8 . Bu yükseklik yaşlı hastalarda malignite şüphesi ile daha fazla PET/BT çekilmesi ile açıklanabilir.…”

“…Bu yükseklik yaşlı hastalarda malignite şüphesi ile daha fazla PET/BT çekilmesi ile açıklanabilir. Sigara içimi ve sarkoidoz arasında negatif korelasyon olduğu ve sarkoidoz hastalarında sigara içme oranlarının %8-%20 olduğu bildirilmiştir 1,7,8 . Çalışmamızda, sigara öyküsü %25 hastada mevcut olup, daha önce bildirilmiş oranlara göre kısmen yüksektir.…”

“…Toraks tomografisinde tüm olgularda mediastinal lenfadenopati (%100), 30 olguda da pulmoner nodüler görünüm (%56) saptandı. Ülkemizden yapılan diğer sarkoidoz çalışmalarında da hastaların %35-%44 oranında evre 1 ve %40-43 oranında evre 2 olduğu bildirilmiştir 1,7,8 . Akciğer grafisi pulmoner sarkoidozun değerlendirmesinde ilk başvurulacak görüntüleme yöntemidir, ancak radyolojik skorlama, inflamatuar aktiviteyi belirlemede yetersiz kalır 11 .…”

Sarcoidosis in Jordan: A Study of the Clinical Phenotype and Disease Outcome

“…2,3 While the exact cause of the disease is still being investigated, the influence of genes and environment was previously reported. 4,5 Familial cases of sarcoidosis have been reported in the literature 6 and family history is claimed to be one of the strongest risk factors for the disease. Patients who have at least one first-degree relative with sarcoidosis have at least fourfold increase in the chance of disease occurrence.…”

“…9 Sarcoidosis is diagnosed in patients across the globe with variable incidences, prevalence and courses of disease among different regions and ethnicities. 10 Sarcoidosis in the Middle East was previously addressed in some studies from Saudi Arabia, [11][12][13] Kuwait, 14 Oman, 15 Turkey, 6,16 Israel, 17,18 Iran 19,20 and Egypt. 21,22 In this study, we aimed to evaluate the clinical phenotypic features of sarcoidosis in a single-center academic hospital in Jordan.…”