A decision tree for genetic diagnosis of hereditary periodic fever in unselected patients.

ABSTRACT:

Background

The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ethnic background or clinical criteria. Genetic diagnosis for other hereditary periodic fever syndromes has been poorly evaluated.

Objective

To determine the diagnostic contribution of genetic tests for hereditary periodic syndromes in a large, unselected series of patients.

Methods

A retrospective study was conducted on 1941 patients referred to us for FMF genetic tests between 1997 and 2005. MEFV genotypes were compared with clinical data to appraise criteria for FMF diagnosis. Genetic tests for tumour necrosis factor receptor-associated periodic syndrome (TRAPS), hyperim

SUBMITTER: Federici L 

PROVIDER: S-EPMC1798342 | biostudies-literature | 2006 Nov

REPOSITORIES: biostudies-literature