First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome

Laura Obici, Carlo Manno, Andrea Onetti Muda, Paolo Picco, Andrea D'Osualdo, Giovanni Palladini, Maria Antonietta Avanzini, Diletta Torres, Sabrina Marciano, Giampaolo Merlini

Research output: Contribution to journalArticle

Abstract

Systemic reactive (AA) amyloidosis, leading to renal failure, is a severe complication of most hereditary periodic fever syndromes. The risk of developing this life-threatening condition varies widely among these disorders, being higher for patients affected by familial Mediterranean fever and tumor necrosis factor receptor-associated periodic syndrome. In spite of an acute-phase response during attacks, amyloidosis has never, to date, been described in patients affected with the hyperimmunoglobulinemia D with periodic fever syndrome (HIDS). This is the first report to describe the occurrence of renal AA amyloidosis causing severe nephrotic syndrome in a young Italian man affected with HIDS. The diagnosis of HIDS was established according to clinical, laboratory, and genetic criteria as required by the international Nijmegen HIDS registry. In this patient, 2 mutations in the mevalonate kinase gene were identified, one of which, the leucine-to-arginine substitution at codon 265, is novel.

Original languageEnglish
Pages (from-to)2966-2969
Number of pages4
JournalArthritis and Rheumatism
Volume50
Issue number9
DOIs
Publication statusPublished - Sep 2004

ASJC Scopus subject areas

  • Immunology
  • Rheumatology

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