Progeria (Werner Syndrome): Symptoms, Causes, Diagnosis & Treatment

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Progeria (Werner Syndrome): Symptoms, Causes, Diagnosis & Treatment

Werner syndrome, also called progeria, is a hereditary condition associated with premature ageing and an increased risk of cancer and other diseases. Signs of Werner syndrome usually develop in the childhood or teenage years. A person with Werner syndrome does not have the usual growth spurt typical of a teenager and tends to be shorter than others. Signs of aging, including wrinkles, grey hair and hair loss, may appear in people in their 20s. In their 30’s, signs that may develop include cataracts or clouding of the eye’s lens, type 2 diabetes, skin ulcers, a beaked nose, cancers, and osteoporosis, meaning decrease in bone mineral density. One of the most significant health problems faced by people with Werner syndrome is the early development of various types of cancer and atherosclerosis, commonly known as hardening of the arteries, which can lead to a heart attack.

Werner syndrome is considered to be very rare. It is estimated that 1 in 200,000 people in the United States may have Werner syndrome. Werner syndrome is somewhat more common in Japan and Sardinia in Italy, where it is estimated that 1 in 30,000 people may have the condition. This is because a genetic mutation was known to occur many generations ago, when their population was smaller in number, and over time the genetic mutation has been passed down repeatedly, affecting a higher number of people; this is called a founder mutation.

How does Progeria affect your body?

Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. Individuals with this disorder typically grow and develop normally until they reach puberty. Affected teenagers usually do not have a growth spurt, resulting in short stature. The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair; a hoarse voice; and thin, hardened skin. They may also have a facial appearance described as “bird-like.” Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition.

As Werner syndrome progresses, affected individuals may develop disorders of aging early in life, such as cloudy lenses (cataracts) in both eyes, skin ulcers, type 2 diabetes, diminished fertility, severe hardening of the arteries (atherosclerosis), thinning of the bones (osteoporosis), and some types of cancer.

What are the Causes of Progeria ?

Werner syndrome is a genetic condition. This means that the risk of Werner syndrome can be passed from generation to generation in a family. Mutations (alterations) in the WRN gene are known to cause Werner syndrome. Research is ongoing to learn more about Werner syndrome.

What are the Risk Factors of Progeria ?

Children born in families with a history of the condition are at risk.

Those having consanguineous partners/spouses have the greatest risk. The cause of the disorder is linked to genetic factors

What are the Symptoms of Progeria ?

The signs and symptoms of Werner Syndrome begin to appear after age 10 (post-puberty). These are divided as major and minor features.

Major features:

  • Bilateral cataracts (both eyes are affected)
  • Setting-in of early aging: Skin condition begins to change (tight skin), wrinkles appear, muscle vitality is reduced, hair thins and greys
  • Stunted growth, short stature

Minor features:

  • Reduction in bone density (osteoporosis); bone, tissue calcification
  • Progressive loss of fertility, sexual underdevelopment
  • Voice changes; high-pitched or hoarse tone noticed
  • Onset of atherosclerosis, diabetes (type 2)
  • Flat feet
  • Presence of cancerous mass

How is Progeria Diagnosed?

A clinical diagnosis is based on the presence of all major symptoms (cataracts, skin changes, premature graying/thinning of hair and short stature) and two additional signs (such as osteoporosis or voice change) presenting after adolescence. Molecular analysis can identify most of the mutations in the WRN gene by standard exon sequencing and sequencing of RT-PCR products, in combination with Western blot analysis showing the absence of normal WRN protein.

How to Prevent & Control Progeria ?

Currently there are no specific methods or guidelines to prevent Werner Syndrome genetic condition

Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy

If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child

Treatment of Progeria Allopathic Treatment

As such no cure for Werner syndrome, symptomatic treatment is given to alleviate symptoms –

  • Regular screening of the patient is maintained, and a case-by-case approach made.
  • Annual exam to check for cataract, diabetes, cancer, skin condition, to study lipid profile, and progress of the disorder.
  • Vitamin C supplement is said to slow progression rate of the disorder and aid in tissue repair.
  • Surgical intervention may be required for severe cataracts; visual aids are used otherwise.
  • Bone-related problems may require special therapy sessions, surgery, use of walking aids and prosthetics.

Progeria – Lifestyle Tips

Smoking, excessive drinking, too much sun-exposure, having high calorie (junk) food, must be avoided.

Periodic medical checkups with cancer screening are necessary and important.

Any health-related conditions (like a chest pain, sudden weight loss), physical changes observed, should be immediately reported to the physician.

What are Recommended Exercises for Person with Progeria?

No clinical data is available regarding this.

Progeria & Pregnancy – Things to know

The risk for two carrier parents to both pass the abnormal gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. … Werner syndrome is caused by abnormal changes (mutations) in the WRN gene.

Common Complications Related to Progeria

Complications due to Werner Syndrome include:

  • High susceptibility to many types of benign and malignant tumors  (in about 10% of the cases), which affect soft tissues and bones (osteosarcoma), bone marrow, central nervous system (meningioma), and thyroid
  • Sex glands may become dysfunctional, leading to infertility
  • Loss of vision
  • Bones may break easily resulting in bone fractures
  • Heart attack, other cardiac problems

Other FAQs about Progeria

What chromosome is affected by Progeria?

The mutation in the WRN gene that causes Werner syndrome is autosomal and recessive, meaning that sufferers must inherit a copy of the gene from each parent. Patients display rapid premature ageing beginning in young adulthood, usually in their early twenties.

What causes Progeria ?

The mutation in the WRN gene that causes Werner syndrome is autosomal and recessive, meaning that sufferers must inherit a copy of the gene from each parent. Patients display rapid premature ageing beginning in young adulthood, usually in their early twenties.

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