Clinical Observation
November 12, 2001

Genetic Analysis as a Valuable Key to Diagnosis and Treatment of Periodic Fever

Author Affiliations

From the Divisions of General Internal Medicine (Drs Simon, van Deuren, van der Meer, and Drenth) and Gastroenterology (Dr Drenth), Department of Medicine, University Medical Center, St Radboud, Nijmegen, the Netherlands; and the Division of Molecular and Clinical Immunology, School of Clinical Laboratory Sciences, Queen's Medical Center, Nottingham, England (Dr Tighe).


Copyright 2001 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2001

Arch Intern Med. 2001;161(20):2491-2493. doi:10.1001/archinte.161.20.2491

We describe 2 Dutch patients with recurrent fever attacks undiagnosed for more than 40 years. The diagnosis of periodic fever was made when molecular analysis revealed novel mutations in the tumor necrosis factor (TNF) receptor gene (TNFRSF1A), establishing the diagnosis of TNF receptor–associated periodic syndrome. This syndrome is an autosomal dominant disorder characterized by recurring episodes of fever, arthralgia, and skin lesions that is caused by mutations in the 55-kd TNFRSF1A gene. This finding has facilitated treatment for TNF receptor–associated periodic syndrome because blocking of TNF signaling seems to alleviate the symptoms. Use of a short course of recombinant p75TNFR:Fc fusion protein (etanercept) induced prolonged remission in one patient.