Clinical Observation |

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

Anna Simon, MD; Marcel van Deuren, MD, PhD; Paddy J. Tighe, PhD; Jos W. M. van der Meer, MD, PhD; Joost P. H. Drenth, MD, PhD
Arch Intern Med. 2001;161(20):2491-2493. doi:10.1001/archinte.161.20.2491.
Text Size: A A A
Published online

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.

Figures in this Article

Sign In to Access Full Content

Don't have Access?

Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more

Subscribe for full-text access to content from 1998 forward and a host of useful features

Activate your current subscription (AMA members and current subscribers)

Purchase Online Access to this article for 24 hours


Place holder to copy figure label and caption
Figure 1.

Family trees of patients 1 (A) and 2 (B). Arrows indicate the patients; line through a symbol, deceased; closed symbol, affected; open symbol, unaffected; and open symbol around a black circle, carrier of mutation without clinical symptoms.

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.

Effect of treatment with etanercept in patient 2 on body temperature and C-reactive protein level. Thick horizontal lines indicate the times when the patient had accompanying symptoms (see the "Diagnosis" subsection); plus signs, subcutaneous injection of 25 mg of etanercept.

Graphic Jump Location




Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.
Citing articles are presented as examples only. In non-demo SCM6 implementation, integration with CrossRef’s "Cited By" API will populate this tab (http://www.crossref.org/citedby.html).
Submit a Comment


Some tools below are only available to our subscribers or users with an online account.

Web of Science® Times Cited: 16

Sign In to Access Full Content

Related Content

Customize your page view by dragging & repositioning the boxes below.

See Also...
Related Topics
PubMed Articles