Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis.
キーワード
概要
BACKGROUND
Constrictive pericarditis (CP) represents a rare cause of protein-losing enteropathy (PLE) resulting from intestinal lymphangiectasia (IL). In this report, we describe an 8-year-old Turkish boy with IL and PLE secondary to CP.
METHODS
The boy was introduced to our clinic due to bilateral pretibial edema and swelling of the eyelids caused by hypoproteinemia. Physical examination revealed a distended right jugular vein. Laboratory investigation revealed PLE with fecal concentration of alpha-1 antitripsin of 4.87 mg/g. Histopathologic examination of random biopsies obtained from the duodenum revealed markedly dilated lymphatics compatible with IL. Constrictive pericarditis was diagnosed by tagged cine cardiac magnetic resonance imaging.
RESULTS
Pericardiectomy was performed for the patient. Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. Colchicine was started after the operation. Six months after the initiation of regular colchicine therapy, echocardiography revealed disappearance of CP.
CONCLUSIONS
This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.
