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Werner syndrome is a genetically determined disease entity characterized by premature aging. Its symptoms usually appear in adolescence. For this reason, Werner syndrome is often referred to as "adult progeria". Treatment of Werner syndrome is symptomatic.


  1. Werner syndrome - causes
  2. Werner syndrome - symptoms
  3. Werner syndrome - diagnosis
  4. Werner syndrome - treatment
  5. Werner syndrome - prognosis

Werner syndromeis a rare genetic disease often described as premature aging, the symptoms of which are characteristic of patients. It usually leads to premature graying, hair loss or cataracts. However, disorders such as Alzheimer's disease or senile dementia are not present. The disease usually appears in the first half of the second decade of life.

Werner syndrome - causes

Werner syndrome is an autosomal recessive genetic disorder. The mutation in the WRN gene on the short arm of chromosome 8 concerns the WRN protein, which is a DNA helicase, i.e. an enzyme that unscrews the DNA double strand. As a result, the DNA of sick people contains much more damaged areas, which contributes to the symptoms of premature aging.

Werner syndrome - symptoms

The disease manifests itself through changes in many areas of the human body. The characteristic features of aging in this syndrome are:

  • graying
  • hair loss
  • early revealing wrinkles
  • cataract
  • osteoporosis
  • atherosclerosis
  • type 2 diabetes

Other common symptoms of Werner syndrome are:

  • skin sclerosis and thinning outbreaks with accompanying atrophy of the subcutaneous tissue
  • hyperkeratosis in places of bone prominence
  • ulceration
  • poikilodermia, i.e. the coexistence of telangiectasia, reticular hyperpigmentation and hypopigmentation foci
  • low rise
  • specific "bird" face with a beaked nose and sunken cheeks
  • endocrine disorders such as hypogonadism, gynecomastia, amenorrhea, premature cessation of ovarian function, infertilityand impotence
  • calcium metabolism disorders resulting in osteoporotic changes and soft tissue calcification
  • flat feet
  • deformities of joints and bones
  • neurological symptoms such as sensory neuropathies, muscle fatigue and myopathies

Patients are also much more likely to develop neoplasms such as: thyroid cancer, melanoma, meningiomas, soft tissue sarcoma, leukemia and osteosarcoma.

Werner syndrome - diagnosis

Usually, skin lesions are noticed first, which may incorrectly suggest a diagnosis of scleroderma, and the correct diagnosis is made much later. In order to correctly diagnose the disease, the symptoms are divided into main and additional symptoms.

The main symptoms include: premature graying, thinning of the head hair, alopecia, bilateral cataracts, skin changes, short stature.

Additional symptoms include slim limbs, "bird-like" face, sharp features, osteoporosis, voice discoloration, hypogonadism, type 2 diabetes, soft tissue calcification, cancer, and atherosclerosis. Confident diagnosis requires the recognition of four main symptoms and two additional ones.

In order to confirm the disease, a genetic test should be performed. Additional tests performed in the course of the disease are not very characteristic.

  • blood tests often show elevated levels of triglycerides and glucose
  • urine tests may show elevated levels of hyaluronic acid
  • X-rays are useful in the diagnosis of osteoporotic and degenerative changes associated with this disease
  • ECG and echocardiography enable the assessment of changes in the heart

Werner syndrome - treatment

Treatment of this disorder is symptomatic. It is important to treat diabetes and lipid disorders to prevent cardiovascular complications. Skin changes are also treated.

Werner syndrome - prognosis

Most people with Werner syndrome die between the ages of 40 and 60. The most common causes of death are heart attacks and neoplasms, which are complications of the disease.

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