Werner’s syndrome


Werner Syndrome (WRN) is a very rare, autosomal recessive[1] disorder characterized by the appearance of premature aging.[2] Werner's syndrome more closely resembles accelerated aging than any other segmental progeria. For this reason, Werner syndrome is often referred to as a progeroid syndrome, as it partly mimics the symptoms of Progeria.


Individuals with this syndrome typically develop normally until they reach puberty. Following puberty they age rapidly, so that by age 4 they often appear several decades older. The age of onset of Werner syndrome is variable, but an early sign is the lack of a teenage growth spurt, which results in short stature. Other signs and symptoms appear when affected individuals are in their twenties or thirties and include loss and graying of hair, hoarseness of the voice, thickening of the skin, and cloudy lenses (cataracts) in both eyes. Overall, people affected by Werner syndrome have thin arms and legs and a thick torso. Affected individuals typically have a characteristic facial appearance described as "bird-like" by the time they reach their thirties. Patients with Werner syndrome also exhibit genomic instability, hypogonadism, and various age-associated disorders; these include cancer, heart disease, atherosclerosis, diabetes mellitus, and cataracts. However, not all characteristics of old-age are present in Werner patients; for instance, senility is not seen in individuals with Werner syndrome. People affected by Werner syndrome usually do not live past their late forties or early fifties, often dying from the results of cancer or heart disease.


WS is a genetic disorder.


Perform a thorough clinical and laboratory examination, keeping in mind the patient's 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: o Fasting blood glucose test o Oral glucose tolerance test o Triiodothyronine, levothyroxine, and thyrotropin tests o 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.