Werner Syndrome Workup

Updated: Apr 16, 2021
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print

Laboratory Studies

Perform a thorough clinical and laboratory examination, keeping in mind Werner syndrome (WS) patients' increased risk of neoplasms.

WS has no specific laboratory abnormalities. Any laboratory abnormalities are related to concomitant diseases, especially diabetes mellitus, arteriosclerosis, and hypogonadism, which are often seen in WS.

One should perform the following:

  • Fasting blood glucose test

  • Oral glucose tolerance test

  • Triiodothyronine, levothyroxine, and thyrotropin tests

  • Appropriate vascular studies

Diabetes mellitus is of the late-onset type.

One should check the blood glucose level.

An oral glucose tolerance test should be performed.

Atherosclerosis should be evaluated with a lipid profile.

An elevated low-density-lipoprotein cholesterol level and a high triglyceride level associated with a low high-density-lipoprotein cholesterol level are the risk factors for atherosclerotic vascular disease.

The National Cholesterol Education Program has issued guidelines for the diagnosis and optimal treatment of hyperlipidemia.

Hypogonadism is usually due to intestinal fibrosis.

One should check estradiol, progesterone, and luteinizing hormone/follicle-stimulating hormone (LH/FSH) levels in the sera of female patients.

One should check testosterone and LH/FSH in the sera of male patients.


Other Tests

Both genetic testing and clinical criteria may not establish the diagnosis is some people. Gene testing can be salient to confirm autosomal recessive inheritance. [8]


Histologic Findings

The skin and subcutaneous tissue of the extremities, especially where it is taut on clinical examination, shows epidermal thinning, loss of rete ridges, and dermal fibrosis with or without collagen hyalinization. Pilosebaceous structures are not well formed. Newly synthesized hyalinized collagen tends to replace the subcutaneous fat. No inflammatory infiltrate is usually evident.