Familial Mediterranean fever in Chinese adult patients

FMF is the most frequent monogenic auto-inflammatory disease worldwide. There have been hardly any cases reported in the Chinese population. We aimed to describe the first cohort of adult FMF patients in China.

We evaluated all the adult patients suffering from FMF referred to our centre from April 2015 through March 2017. Patients were diagnosed clinically according to the Tel Hashomer criteria. Whole exome sequencing was performed in each patient.

A total of 11 adult patients were diagnosed as FMF in our centre. The mean age of onset was 29.4 years (s.d. 18.2). All patients were of Chinese Han ethnicity with no positive family history. All patients had intermittent febrile episodes. During attacks, seven patients had generalized abdominal pain, three experienced chest pain, four developed arthritis and none reported erysipelas-like skin changes. No patient had evidence of AA amyloidosis. Every patient carried at least one variant in the MEFV gene. All patients had good response to colchicine.

Our study is the first to suggest the presence of FMF in the Chinese adult population. The late onset, often atypical and mild clinical manifestations and absence of AA amyloidosis in our patients might be related to low-penetrance and heterozygous MEFV variants. Our results await to be confirmed on larger Chinese populations.