What is Werner Syndrome: Causes, Symptoms, Treatment, Prognosis, Epidemiology
What is Werner Syndrome?
Werner syndrome is named after a scientist Otto Werner of Germany. It is also called ‘adult progeria’. It is important to know about the causes, symptoms, diagnosis and treatment of Werner Syndrome.
Progeria is a Greek word which means ‘before old age’; it is a very rare disease. Growth of individuals is normal until puberty. Normal teenagers show growth spurt during puberty, on the other hand, the teenagers who have Werner syndrome do not show any growth spurt. Instead, they have a short stature. The common characteristics of aged individuals like gray hair, skin wasting, loss of fat, wrinkling, etc. are seen in the affected individuals in the age of twenties. It is an autosomal recessive disorder.
Epidemiology of Werner Syndrome
Incidence of Werner syndrome all around the world is found to be approximately one in million births. It is found that the incidence rate is around 1 in 200000 people in the United Status and more in Japan (one in 20,000 – 40,000) and in Sardinia (one in 50,000).1
Symptoms of Werner Syndrome
Werner syndrome is observed in the teenagers and reaches its maximum in young adults. The affected individuals reach the maximum height by the age of 13-14 years. The main characteristic clinical features of Werner syndrome revolve around accelerated aging.2
Following are the symptoms of Werner syndrome-
Problems Related to Hair in Werner Syndrome- Graying of hair, unusual hair fall in teenage, loss of hairs of eyebrows and eyelashes, absence of hair in underarm area, pubic area and on the trunk in males are some of the symptoms related to hair in Werner Syndrome.
Problems related to Eye- Early cataract, loss of transparency of lenses, accumulation of calcium deposition, chorioretinitis, and degeneration of sensory cells of eye.
Poorly Developed Secondary Sexual Characters- Hypogonadism is usually seen both in males and females suffering from Werner Syndrome, poor sexual development, an unusual underdeveloped penis and testes in males, underdeveloped breast and spare or irregular menstruation in females. The individuals in maximum cases are infertile.
Problems Related to Bones in Werner Syndrome- Osteoporosis, hardening of soft tissues like ligaments, tendons due to abnormal accumulation of calcium are also some of the symptoms of Werner Syndrome.
Werner Syndrome Related Problems of Skin- Ulceration of the skin is also found. The open sores are also referred to as ulcers. It occurs due to ischemia (decreased supply of oxygenated blood to the tissues). In some individuals, hyperpigmentation is also seen in arms and legs. Due to hyperkeratosis, ulcers can be seen in elbows and knees. Scleroderma is also seen in some individuals, loss of fat beneath the skin.
Facial Appearance in Werner Syndrome- Face looks like ‘pinched’, prominent eyes, stiff ears, pinched nose, in some cases the patient may also have beaked nose.
Problems Related to Teeth- Dental problems are also a common symptom of Werner syndrome. Dental abnormalities may be in the form of abnormal development or premature loss of teeth.
Other Symptoms of Werner Syndrome- Atrophy of vocal cords, Arteriosclerosis, High pitched voice, type II diabetes (noninsulin dependent) characterized by polydipsia, polyurea and polyphagia.
Causes of Werner Syndrome
During transcription of gene, the deficiency of WRN protein is found to be one of the main causes for Werner syndrome. DNA replication is inhibited and early aging events occur. The gene expression in the patients resembles the genotype found in normal aging. From one of the researches, it is found that the helicase mutation is responsible for the disorder and the responsible gene is not yet identified due to many reasons. This disease is most possibly seen in children whose parents are blood relations. This is an autosomal recessive disorder and is expressed if both the parents carry the disease gene. It is believed from some researches that mutation on WRN gene situated on 8th chromosome causes this disease.
Diagnosis of Werner Syndrome
Werner syndrome can be recognized after conducting a thorough examination. The diagnosis of Werner syndrome is made with the help of-
- Clinical evaluation like screening for type 2 diabetes, lipid profile, eye examination
- Physical changes
- Family history
In some cases, it is difficult to recognize the disease till 30 to 40 years. It can be detected and confirmed only after some specialized imaging studies, laboratory tests.
Complications of Werner Syndrome
In patients suffering from Werner syndrome, there would be many complications which need to be attended at regular interval of time. The complications may include-
- Short stature and low weight
- Various kinds of cancers including thyroid cancer, soft tissue sarcoma, bone cancer, melanoma
- Type II diabetes
- Loss of teeth
- Loss of hairs
Treatment of Werner Syndrome
At present, Werner syndrome does not have any cure but some medicines for specific symptoms would be helpful. Werner syndrome is treated by many health professionals because of its varied symptoms and complications. Treatment of Werner syndrome include the use of supportive therapies that involve many physicians like ophthalmologists, endocrinologists, diabetologists, orthopedists etc.
Some of the therapies that are useful in the treatment of Werner syndrome are listed here-
Diabetes in patients may be of mild type and sometimes easy to manage with oral hypoglycemic medications.
Abnormalities of the eye of affected individuals might be advised for surgery to remove the lens in case of cataract and insertion of a corrective lens or glass. In some cases, it would be difficult for surgery also as the Werner syndrome patients will be at a risk of wound dehiscence. In such cases, more care is to be taken.
In patients with Werner syndrome, chest pain due to insufficient oxygen supply to heart muscles is very common. Treatment of Werner syndrome includes managing chest pain with specific medications as they have complications of arteriosclerosis and other cardiovascular abnormalities.
The patients with Werner syndrome are at risk of development of benign or malignant tumors. These are treated depending on the stage, grade and type of the tumor. Treatments include medications, anticancer drugs, surgery etc.
Prevention of Werner Syndrome
As the Werner syndrome disease is genetically transferred to the offspring, there is no specific method to prevent this disease. Sometimes, genetic testing of the expecting parents with family history might be helpful. Before planning a child, counseling would be helpful for the couple who have a family history. However, people are advised to lead a good quality of life by consuming well balanced diet, avoiding junk food, avoiding smoking and alcohol. Any individual who experiences chest pain or sudden weight loss or find any physical change, must be brought to the notice of the physician.
Werner syndrome is a genetic disorder which passes from parents to children. The children have the higher chance of getting Werner syndrome if both the parents have recessive gene of this disease. It is a very rare autosomal gene disorder. Genetic counseling for the individuals with Werner syndrome and their families would be helpful. Life span of patients with Werner syndrome is comparatively shorter than the normal individuals.