Format

Send to

Choose Destination
See comment in PubMed Commons below

Werner Syndrome.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2002 Dec 2 [updated 2016 Sep 29].

Author information

1
Department of Pathology, University of Washington, Seattle, Washington
2
Department of Pathology and Genome Sciences, University of Washington, Seattle, Washington
3
Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington

Excerpt

CLINICAL CHARACTERISTICS:

Werner syndrome is characterized by the premature appearance of features associated with normal aging and cancer predisposition. Individuals with Werner syndrome develop normally until the end of the first decade. The first sign is the lack of a growth spurt during the early teen years. Early findings (usually observed in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by bilateral ocular cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction and cancer are the most common causes of death; the mean age of death in individuals with Werner syndrome is 54 years.

DIAGNOSIS/TESTING:

The diagnosis of Werner syndrome is established in a proband with the following cardinal signs: bilateral ocular cataracts, premature graying and/or thinning of scalp hair, characteristic dermatologic pathology, and short stature. Identification of biallelic WRN pathogenic variants on molecular genetic testing confirms the diagnosis if clinical features are inconclusive.

MANAGEMENT:

Treatment of manifestations: Aggressive treatment of skin ulcers; control of type 2 diabetes mellitus (pioglitazone has been successful); cholesterol-lowering drugs if lipid profile is abnormal; surgical treatment of ocular cataracts using special techniques; treatment of malignancies in a standard fashion. Prevention of secondary complications: Smoking avoidance, regular exercise, weight control to reduce atherosclerosis risk; excellent skin care and avoidance of trauma to the skin. Surveillance: Screening for type 2 diabetes mellitus at least annually; annual lipid profile; at least annual physical examination with attention to malignancies common in Werner syndrome; annual ophthalmologic examination for cataracts; attention to symptoms of angina or peripheral cerebrovascular disease. Agents/circumstances to avoid: Smoking and excess weight, which increase the risk for atherosclerosis; trauma to the extremities.

GENETIC COUNSELING:

Werner syndrome is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being neither affected nor a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Support Center