Madisons Foundation - Moms And Dads In Search Of Needed Support
Monday, 21 June 2004
Monday, 21 June 2004
Progeria adultorum, Pangeria
Werner’s Syndrome (WS) is a rare genetic disease characterized by premature aging directly following puberty, resulting in the person appearing much older than he or she is, and having many problems that would be expected only in much older people.
Onset of WS occurs in people in their mid teens through their late 20’s or early 30’s. The average age of patients at time of diagnosis is 37. WS occurs in people of all races, and both sexes are equally affected. The incidence of WS in the US is estimated to be between 1 in 50,000 and 1 in 100,000. WS is more common in Japan and Sardinia. WS is the most common of all progerias (diseases of premature aging), with approximately 1000 cases reported in the world.
Signs and Symptoms
The most characteristic (cardinal) symptoms and signs of WS occur in people over the age of 10 years and include:
1. Cataract development in both eyes in the second and third decades of life
2. Skin changes (tight skin, ulceration, color changes, atrophy, patches of stiff skin called scleroderma)
3. Characteristic facial appearance (lower part of the face is disproportionately large; nose is pinched and cheeks are sunken because of fat loss)
4. Growth arrest following puberty (causing a reduced adult height)
5. Prematurely aged appearance (wrinkled skin, graying hair or baldness, muscle atrophy)
Signs and symptoms of associated complications include:
1. Type 2 Diabetes Mellitus
2. Decreased production of male and female hormones (hypogonadism), leading to decreased fertility, and poorly developed sexual characteristics ( such as beard growth, voice changes, breast development, pubic and auxillary hair growth)
3. Osteoporosis (weakening of bones due to mineral loss)
4. Osteosclerosis (bone hardening and weakening) of tips of fingers and/or toes based on X-ray findings
5. Calcium deposits in soft tissues.
6. Premature atherosclerosis (hardening of the arteries) leading to heart attacks.
7. Cancers, especially rare cancers or multiple tumors
8. Abnormal voice or voice changes (high pitched, squeaky or hoarse)
WS is caused by a defect in DNA helicase, an enzyme that is involved in the process of cell division. Normally, most body cells divide many times before they die, but the frequency of cell division decreases as the person ages. People with WS are thought to be born with cells that divide less frequently than normal, which causes them to appear to age prematurely. WS is caused by a mutation in the WRN gene on chromosome 8, which is inherited in an autosomal recessive manner. The WRN gene normally helps repair DNA, but in WS the gene does not function well, leading to accumulated damage to the DNA and signs and symptoms that appear like premature aging.
WS is diagnosed based on the patient’s past medical history, physical exam and blood tests. The most definite diagnosis includes a patient having the most cardinal signs and symptoms plus 2 of the associated complications. Patients cannot have the disorder if symptoms are present prior to adolescence. There is no specific lab test to diagnose WS, although genetic testing for the WRN gene may become more available outside of research laboratories. More commonly, patients may have lab abnormalities related to associated diseases like diabetes mellitus, atherosclerosis and hypogonadism. Therefore, blood glucose level and lipid profile should be obtained. For female patients, the physician may check blood estradiol, progesterone, leuteinising hormone (LH), follicle-stimulating hormone (FSH) levels. For male patients, the physician may check testosterone, LH and FSH levels. The physician may also order appropriate vascular studies and check thyroid gland function.
There is no cure or specific treatment for WS. However, treatments for some of the symptoms are available. For example, eye surgery can correct cataracts. Also, standard treatments for diabetes mellitus, osteoporosis, atherosclerosis and scleroderma are available.
People with WS are healthy through adolescence. Except for short stature, they typically do not exhibit WS symptoms until their 20s. Unfortunately, life expectancy of people with WS is shorter than normal, estimated to be around the age of 47. Cancers and heart disease are the most significant associated problems.
Connect with other parents
In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.
International Registry of Werner’s Syndrome
Easy to follow website which includes diagnostic criteria, medical genetics, literature, and web links.
Very comprehensive review of all aspects of the disease from a reputable source (GeneReviews, sponsored by NIH and developed at University of Washington, Seattle). Both of these sites are somewhat technical.
Ontario Science Centre
Nice site with good information, easy to read