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1039 IS FAMILIAL MEDITERRANEAN FEVER (FMF) ASSOCIATED WITH NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD)?
S376
Poster Session − Saturday, April 25
1039 IS FAMILIAL MEDITERRANEAN FEVER (FMF) ASSOCIATED WITH NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD)? D. Rimar1 , I. Rosner2 , M. Rozenbaum2 , E. Zuckerman1 . 1 Liver Unit Carmel Medical Center, Technion Faculty of Medicine, 2 Rheumatology Department, Bnai Zion Medical Center, Haifa, Israel E-mail: [email protected] Background: FMF is a periodic febrile disease characterized by acute recurrent episodes of fever and serositis. Liver disease is not considered a part of the spectrum of clinical manifestations of FMF and only rarely such an association has been described. We have observed high proportion of NAFLD among FMF patients who were referred to our liver unit for assessment of chronic liver disease (CLD). Therefore we conducted the present study to describe and characterize the CLD which is possibly associated with FMF. Methods: 23 patients (mean age 48±4.1 yrs, F:M 15:8) with FMF who were referred to the Liver Unit in Carmel Medical Center for assessment of chronically abnormal liver tests were studied. Data regarding FMF and liver disease were obtained from patients’ medical files. Liver biopsy was performed in 18 of 23 patients and was avoided in 5 (cirrhotic coagulopathy in 4 and refusal of one). Clinical diagnosis of cirrhosis was made if portal hypertension and/or decreased synthetic liver function were present. Results: Most patients had definite FMF with a normal severity score distribution. The mean daily dose of colchicin was 1.4±0.3 mg. In 13 of 23 patients there was evidence of NAFLD: 4 with “simple” steatosis, 4 with NASH (one with HBsAg+) and 5 with NASH-cirrhosis, 6 patients had “cryptogenic” cirrhosis (2 with history of “hyperechoic” liver by US) (2 with HBcAb+), 3 had chronic “cryptogenic” hepatitis and one had normal liver tissue. Only 4 patients had metabolic syndrome (all had NASH-cirrhosis) and the mean BMI was 26±4.1. Congo red staining for amyloid was negative in all liver biopsies. 6 of 7 patients who underwent mutation analysis for FMF were homozygous for M694V. Conclusions: 82% of our FMF patients with chronic abnormal liver tests had NAFLD (biopsy proven in most of them) (56%) or “cryptogenic” cirrhosis (26%) which in many patients is the end result of unrecognized NASH. The extremely high proportion of NAFLD and cryptogenic cirrhosis in our cohort of FMF patients may indicate an unexposed novel association between FMF and NAFLD in which the FMF gene (FMEV) may play a pathogenetic role.
Poster Session − Saturday, April 25
1039 IS FAMILIAL MEDITERRANEAN FEVER (FMF) ASSOCIATED WITH NON-ALCOHOLIC FATTY LIVER DISEASE (NAFLD)? D. Rimar1 , I. Rosner2 , M. Rozenbaum2 , E. Zuckerman1 . 1 Liver Unit Carmel Medical Center, Technion Faculty of Medicine, 2 Rheumatology Department, Bnai Zion Medical Center, Haifa, Israel E-mail: [email protected] Background: FMF is a periodic febrile disease characterized by acute recurrent episodes of fever and serositis. Liver disease is not considered a part of the spectrum of clinical manifestations of FMF and only rarely such an association has been described. We have observed high proportion of NAFLD among FMF patients who were referred to our liver unit for assessment of chronic liver disease (CLD). Therefore we conducted the present study to describe and characterize the CLD which is possibly associated with FMF. Methods: 23 patients (mean age 48±4.1 yrs, F:M 15:8) with FMF who were referred to the Liver Unit in Carmel Medical Center for assessment of chronically abnormal liver tests were studied. Data regarding FMF and liver disease were obtained from patients’ medical files. Liver biopsy was performed in 18 of 23 patients and was avoided in 5 (cirrhotic coagulopathy in 4 and refusal of one). Clinical diagnosis of cirrhosis was made if portal hypertension and/or decreased synthetic liver function were present. Results: Most patients had definite FMF with a normal severity score distribution. The mean daily dose of colchicin was 1.4±0.3 mg. In 13 of 23 patients there was evidence of NAFLD: 4 with “simple” steatosis, 4 with NASH (one with HBsAg+) and 5 with NASH-cirrhosis, 6 patients had “cryptogenic” cirrhosis (2 with history of “hyperechoic” liver by US) (2 with HBcAb+), 3 had chronic “cryptogenic” hepatitis and one had normal liver tissue. Only 4 patients had metabolic syndrome (all had NASH-cirrhosis) and the mean BMI was 26±4.1. Congo red staining for amyloid was negative in all liver biopsies. 6 of 7 patients who underwent mutation analysis for FMF were homozygous for M694V. Conclusions: 82% of our FMF patients with chronic abnormal liver tests had NAFLD (biopsy proven in most of them) (56%) or “cryptogenic” cirrhosis (26%) which in many patients is the end result of unrecognized NASH. The extremely high proportion of NAFLD and cryptogenic cirrhosis in our cohort of FMF patients may indicate an unexposed novel association between FMF and NAFLD in which the FMF gene (FMEV) may play a pathogenetic role.