Familial Mediterranean fever - A review of the disease and clinical and laboratory findings in 105 patients

Background. The diagnosis of familial Mediterranean fever still remains cli nical, since no specific laboratory test exists, other than a molecular gen etic test which is not widely available. Aim. To evaluate the clinical findings in 105 Turkish patients; to compare these findings with those in the literature; and to make a brief review of the disease. Methods. A total of 105 familial Mediterranean fever patients were evaluate d either retrospectively [for those diagnosed before 1997], or prospectivel y [for those after 1997]. A diagnostic criteria set was used in addition to the clinical and laboratory findings that can be seen in familial Mediterr anean fever, including the newly described manifestations. Previously selec ted clinical and laboratory parameters were observed for three consecutive days. Results. Of our patients, 88.5% were of Turkish, 3.8% of Armenian and 7.6% of Jewish origin. Family history was positive in 87 [82.8%] patients. invol ved site was peritoneum in 97 [92%], joints in 45 [42.8%] and pleura in 19 [18%]. Frequency of myalgia/arthralgia was 24.7%, and skin findings were ob served in 16.1% of patients. Splenomegaly, not related to amyloidosis, was present in 21 [20%] patients. Meningeal, retinal or ovarian/testicular invo lvement was not observed. Conclusion. identification of familial Mediterranean fever gene has led to the application of a molecular genetic test for the diagnosis of Familial M editerranean Fever. Until genetic methods become widely available, diagnosi s will remain clinical. Thus, awareness of various clinical forms and of th e correct usage of diagnostic criteria in various patient populations is im portant.