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At a glance

Premature aging disease that begins in adolescence or early adulthood. The early findings, usually within 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 main risks are associated with cardiovascular and neurological complications because of the atheromatous disease. The mean age of death is 54 years.

Synonyms

Progeria Adultorum; Progeria of the Adult; Adult Progeria Syndrome.

History

This medical condition was first described by C. W. Otto Werner, a German physician, in 1904. He observed premature aging in four siblings.

Incidence

The global incidence rate is established at 1 per 100,000 live births in the general population. It is reported more common in Japan and Sardinia where it is encountered in 1 per 20,000 to 40,000 and 1 in 50,000, respectively. The prevalence of Werner Syndrome varies with the level of consanguinity in populations. Based on the population allele frequency of the most common pathogenic variant, c.1105C>T (rs17847577), which accounts for approximately 20% of pathogenic alleles, the prevalence of Werner Syndrome is estimated at 1:380,000 to 1:1,000,000. As of 2006, 1,300 cases have been reported internationally and 800 of them are located in Japan. The mean age of diagnosis is 24 years. The median and mean age of death is 48 and 54 years, respectively. The youngest person diagnosed and reported in the literature was 6 years old. The main cause of death is cardiovascular complications or cancer.

Genetic inheritance

It is believed to be inherited as an autosomal recessive trait.

Pathophysiology

A reduction in the amount of cell DNA repair activity has been demonstrated and postulated as a cause of the premature aging. In addition, these patients are at increased risk of developing malignancies of skin and intestine. Syndrome is caused by mutations in the RecQ protein-like 2 gene located at 8p12–p11.2.

Diagnosis

Characterized by short stature, slender limbs, cataracts, skin hypoplasia, and stocky trunk. The early findings, usually within 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.

Clinical aspects

Patients with Werner Syndrome demonstrate progeria, showing loss of subcutaneous fat, prominent scalp veins, short stature, weight loss, sclerodermoid skin changes, mottled pigmentation, and freckling. Hair loss and premature graying are features. Patients frequently demonstrate premature aging only in their third decade. Development of endocrine disturbance with diabetes and early atherosclerosis occur, as well ...

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