What Is Werner’s Syndrome

Werner syndrome is a rare inherited disease  that causes a person to grow prematurely. This means that as early as the age of 20 or 30, people with this disease have many of the characteristics of older people.

Experts are not quite sure how many people are affected by this disease worldwide. It is estimated that in the United States, for example, one in 200,000 people suffers from this syndrome. Interestingly, in Japan, the figure is again significantly higher.

Werner syndrome produces some very characteristic features. Patients are usually short in stature and typically have the characteristics of a very old person. For example, wrinkles and gray hair. However, appearance is not the only factor affected by this syndrome.

In this article, we will explain everything you need to know about Werner Syndrome.

What is Werner’s syndrome?

Werner’s syndrome is an autosomal recessive disease. The cause of this pathology is a gene mutation in the WRN gene.

Those who are ill are completely normal at birth and throughout childhood. The first manifestations usually appear at the age of 20-30 years. In adolescence, the first sign of this syndrome appears: there is no growth spurt typical of adolescence.

As we have already mentioned, the most obvious symptoms are related to appearance. These individuals are usually short-lived, have age-related skin changes and gray hair. Their skin is also thinner and often even their voice changes.

However, this is not the most important aspect of Werner syndrome. The problem is that these people are more susceptible to certain diseases. First, they often suffer from osteoporosis and atherosclerosis. Cataracts are also a common disease among people with this syndrome.

In addition, they tend to have poorer hearing and the joints are stiffer as well as more sore. Almost any change or illness typical of people over the age of 65 is possible.

What other diseases are associated with Werner’s syndrome?

This syndrome is often associated with other skin problems such as ankle ulcers. In addition, it is typical to find a link to diabetes mellitus. Age also serves as a risk factor for this syndrome.

People with Werner syndrome have a much higher risk of developing cancer. Most commonly, it is melanoma, which is a type of skin cancer. Sarcoma is also common.

However, the main cause of death in these people is not usually related to skin changes. Most die of a heart attack because atherosclerosis spreads faster than in healthy people.

How is Werner’s syndrome diagnosed?

Diagnosing Werner’s syndrome can be complicated because it is a rare disease. In most cases, however, it is only a matter of long-term observation of these people. The symptoms are quite obvious in almost all cases.

If cytology is not sufficient, genetic testing can be done to look for a mutation in the gene. Once a person is diagnosed, it is important to explain all the features of the disease.

As this is an inherited disease, the patient should be informed that their children may develop the same syndrome. For this reason, it is sometimes recommended that other family members undergo genetic testing.

How to live with Werner syndrome?

Unfortunately, there is no cure for this disease. Treatment is based on the management of all symptoms associated with the disease. And this often requires tests as well as research.

In addition, psychological support is essential because living with this illness can be very difficult. Although it is a rare disease, Werner syndrome is very serious because it greatly affects the quality of life of the person suffering from it.