title: Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis.
abstract: 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.
authors.affiliation: Department of Pediatric Nephrology and Rheumatology, Gülhane Military Academy of Medicine, School of Medicine, 06018 Etlik, Ankara, Turkey. gokcemd@yahoo.com
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Gökçe
authors.forename: Selim
authors.initials: S
authors.lastname: Gökçe
authors.forename: Ayhan
authors.initials: A
authors.lastname: Kılıç
authors.forename: Uğur
authors.initials: U
authors.lastname: Bozlar
authors.forename: Murat
authors.initials: M
authors.lastname: Kocaoğlu
authors.forename: Onder
authors.initials: O
authors.lastname: Ongürü
authors.forename: Faysal
authors.initials: F
authors.lastname: Gök
mesh_terms: D002648:Child; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007601:Jugular Veins / Q000473:pathology; D008201:Lymphangiectasis, Intestinal / Q000209:etiology; D042601:Lymphatic Vessels / Q000473:pathology; D019028:Magnetic Resonance Imaging, Cine; D008297:Male; D010492:Pericardiectomy; D010494:Pericarditis, Constrictive / Q000150:complications* / Q000175:diagnosis / Q000209:etiology / Q000601:surgery; D011504:Protein-Losing Enteropathies / Q000209:etiology*