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Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis

Ibrahim Gökçe1, Selim Gökçe, Ayhan Kılıç

  • 1Department of Pediatric Nephrology and Rheumatology, Gülhane Military Academy of Medicine, School of Medicine, 06018 Etlik, Ankara, Turkey. gokcemd@yahoo.com

World Journal of Pediatrics : WJP
|January 7, 2011
PubMed
Abstract

Insights

This case study highlights a rare instance of protein-losing enteropathy (PLE) caused by constrictive pericarditis (CP) in an 8-year-old boy. Treatment with colchicine successfully resolved the CP and associated PLE.

Area of Science:

  • Cardiology
  • Gastroenterology
  • Genetics

Background:

  • Constrictive pericarditis (CP) is an uncommon cause of protein-losing enteropathy (PLE) stemming from intestinal lymphangiectasia (IL).
  • This report details a unique case of IL and PLE secondary to CP in an 8-year-old Turkish male.

Observation:

  • The patient presented with bilateral pretibial edema and eyelid swelling due to hypoproteinemia, alongside a distended right jugular vein.
  • Laboratory results confirmed PLE with elevated fecal alpha-1 antitrypsin.
  • Duodenal biopsies showed dilated lymphatics consistent with IL, and cardiac MRI diagnosed constrictive pericarditis.

Findings:

  • Surgical pericardiectomy was performed, followed by genetic analysis revealing a heterozygous E148Q mutation in the Mediterranean fever (MEFV) gene.
  • The patient was initiated on colchicine therapy post-operation.
  • Six months of colchicine treatment led to the resolution of constrictive pericarditis, as confirmed by echocardiography.

Implications:

  • This case represents the first documented instance of PLE with a distended jugular vein due to CP secondary to familial Mediterranean fever (FMF).
  • The findings underscore the importance of considering CP in pediatric patients with unexplained PLE and IL.
  • Successful treatment with colchicine suggests a potential therapeutic role for this medication in similar FMF-associated CP cases.

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