What are the other Names for this Condition? (Also known as/Synonyms)
- Adult Premature Aging Syndrome
- Progeria of the Adult
- WS (Werner Syndrome)
What is Werner Syndrome? (Definition/Background Information)
- Werner Syndrome (WS), also known as Adult Premature Aging Syndrome, is an inherited genetic condition characterized by the onset of an accelerated aging process, right from a young age of 10 years
- It is an autosomal recessive abnormality with the faulty genes being inherited, from both parents
- The typical features of WS include cataract eyes, change of skin condition, stunted physical growth, hair loss, and reduction in bone density. The individual is also susceptible to many forms of cancer and heart problems
- The adult aging process is a permanent and irreversible condition. Symptomatic treatment and supportive care is normally provided
Who gets Werner Syndrome? (Age and Sex Distribution)
- Werner Syndrome manifests itself after age 10 (around puberty)
- No male-female gender preference is observed; both sexes are equally affected
- The global incidence rate varies from 1 in 22,000 to 1 in 1,000,000
- Japan is known to have a higher incidence of the disorder. No other racial or ethnic preference is noted
What are the Risk Factors for Werner Syndrome? (Predisposing Factors)
- 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
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Werner Syndrome? (Etiology)
- Anomalous genetic mutations in gene ‘WRN’ is said to cause Werner Syndrome. The reason behind the irregular gene changes and the exact mechanism of how the aging process sets in, is being researched upon
- Both parents have to be affected with Werner Syndrome, or be carriers of the defective genes, for their offspring to be affected with WS. This feature is known as autosomal recessive
Autosomal Recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).
What are the Signs and Symptoms of Werner Syndrome?
The signs and symptoms of Werner Syndrome begin to appear after age 10 (post-puberty). These are divided as major and minor 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
- 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 Werner Syndrome Diagnosed?
If all of the main features described are present (along with any two minor signs), and if there is an affected sibling or a cousin; then, these are confirmatory indications of Werner Syndrome.
Otherwise, certain diagnostic tests are required to eliminate other conditions:
- Physical examination, evaluation of patient’s medical history
- Genetic analysis
- Urine and serum analysis
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis
What are the possible Complications of Werner Syndrome?
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
How is Werner Syndrome Treated?
Werner Syndrome is closely monitored and symptomatic management of the presentations undertaken. Regular screening of the patient is maintained, and a case-by-case approach made. WS is incurable and the aging process irreversible. Nevertheless, the following measures are helpful:
- 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
How can Werner Syndrome be Prevented?
- 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
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
However, in order to prolong the quality of life, those with the syndrome must maintain a healthy life with a good diet, and be physically active.
- 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 is the Prognosis of Werner Syndrome? (Outcomes/Resolutions)
- The advancement of Werner Syndrome is not alterable. After onset of the genetic disorder at age 10, an accelerated aging process sets in. An individual would have aged considerably by the age of 40 years
- A good diet, regular exercise, periodic medical screening, avoidance of smoking and excess alcohol, can keep the individual in a better shape for a lot more years
- Complications, such as cancer, diabetes, and heart-related conditions, may adversely affect the outcome
Additional and Relevant Useful Information for Werner Syndrome:
Most individuals affected with Werner Syndrome do not live past their 50s; death usually occurs due to cardiovascular ailments or cancer.