Werner Syndrome: Premature Aging Disorder in Adults

Werner syndrome is a genetic premature aging disease in adults. It’s a hereditary condition, which means that it’s passed on from generation to generation.

Werner syndrome

Werner syndrome is a premature aging disease in adults. It is a genetic disorder which means that it’s passed on from generation to generation. You may also find other terms used to describe Werner syndrome such as progeria.

This medical condition often leads to other complications like a higher risk of cancer or other types of illnesses. Signs and symptoms usually start to become apparent during childhood or preteens. A person who inherited this disease experiences an abnormal growth spurt which commonly occurs around the ages of 11 years.

They also have shorter stature comparing to their contemporaries. They also experience early signs of aging in their 20s that include graying hair, wrinkles, and hair loss. When they reach the age of 30, other medical conditions start to develop like cloudy eyesight or cataracts. More adverse conditions may also occur such as skin ulcers, osteoporosis, diabetes, beaked nose, and even cancer. The health of arteries may also deteriorate leading to atherosclerosis which is a common cause of heart attacks.

People who developed Werner syndrome increase the risk of cancer. Most cancer cases include melanoma, thyroid cancer, bone cancer, and sarcoma (cancer of the soft tissues).

The disease is rare a type of genetic disorder that affects about 1 in 200,000 individuals in the United States alone.

Statistics show that Werner syndrome is more common in Japan and Italy, specifically within the regions of Sardinia. It specifically affects 1 in 20,000 to 40,000 individuals in Japan and 1 in 50,000 individuals in Italy. Researchers suggest that the reason for this is due to their smaller population, which may imply that the disease has passed down from generations continually. Scientists call this instance founder mutation.    

On the other hand, 1 in 100,000 of the general population globally is believed to have inherited the disease. Most cases occurred in 2006, where 1,300 patients were diagnosed with Werner syndrome.

No actual symptoms may become apparent until the person reached puberty. The youngest person diagnosed with this genetic disorder is just under 6 years of age. In most cases, the average lifespan is between the ages of 45 to 55. And the most common disorder that eventually leads to death is cancer and heart diseases.

Causes And Risk Factors

Werner syndrome is a hereditary disorder, which is transmitted from generation to generation. This means that it runs in the family and if you have a family background of Werner syndrome, the likelihood of you or your children developing it is very high. Werner syndrome is primarily caused by the mutation of a gene called WRN. Nowadays, extensive studies are still being made to more about the disease and possible treatments.

In genetics, cells typically have two copies in each gene. The reason why it’s two copies is one is inherited from your mother and the other is from your father. 

The disease is rare because for Werner syndrome to develop, both genes must be mutated which implies that both parents possess the faulty genes. If only one mutated gene was inherited, then the person is only a carrier. If by chance two carriers marry; then their offspring has a 25% chance of developing Werner Syndrome by transmitting both faulty genes.

Premature Aging Disease in Adults

Signs and Symptoms

A person with Werner syndrome displays the following characteristics:

If Werner syndrome starts to develop after the age of 10 years old, these common conditions may occur as well:

  • Deficient in height, in comparison to contemporaries
  • Hair color starts to turn to gray
  • Early-onset of cataracts
  • Wrinkling on a certain part of the skin
  • Loss of muscle mass
  • Hair loss
  • The urine hyaluronic test results in positive in 24 hours.
  • Skin complexion starts to change. Skin becomes dry, easily bruises, and discolored

Other medical conditions may also start to develop, such as the following:

Diagnosis

In addition to the abovementioned symptoms, the primary diagnosis depends on the family’s medical background. If your parents or prior generation relatives have Werner Syndrome, then you or your offspring have a higher risk of development as well.

There are various versions for diagnosing Werner syndrome, and it may continue to change as researchers gained more knowledge about the disorder.

Possible Treatments and Prevention

If both parents are determined as a carrier of the faulty gene, then the couples are given several options if they desire to have children. Certain medical procedures are offered to reduce the risk of Werner syndrome. One example is the Preimplantation genetic diagnosis (PGD), it’s a procedure performed with another medical procedure called in-vitro fertilization (IVF). By undergoing this process, the risk of transmitting the mutated gene is significantly lowered.

The medical procedure involves incubating the eggs in the laboratory until it becomes fertilized. And then each cell of the embryos is tested for any defects. The embryo without any of the faulty genes is then selected.

So far, this medical procedure is considered a success because it’s in use for over 2 decades now. However, this procedure is also expensive.   

Individuals with a medical background of Werner Syndrome are also suggested to undergo regular screenings which include:

  • Blood test
  • Physical test
  • Regular visits to the ophthalmologists to screen for any cataracts
  • Screen for diabetes
  • Regular visits to the dermatologists to screen for any skin abnormalities

People diagnosed with this premature aging disease in adults must also avoid smoking. It’s also advisable for them to maintain a healthy and active lifestyle. By doing so, somehow reduces the risks of cardiovascular diseases and any age-related health complications.

Because of the risks of melanoma, some people diagnosed with this disorder are also advised to limit exposure to UV rays. A proper dress to protect their selves from the sun is also appropriate.

Also, as soon as the person experiences difficulty in breathing caused by a condition called angina, then he should consult his physician immediately to avoid any complications.

As mentioned, extensive studies are still being made to fully classify this disorder. Thus, the screening process may also change as scientists discover more new information about the disease.

Persons diagnosed with Werner symptoms must religiously maintain screening tests to avoid the aggravation of the disorder.

Werner Syndrome

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