Werner Syndrome

What is Werner syndrome?

Werner syndrome is a rare genetic disorder that causes premature aging. You might also hear it called adult progeria. Signs of Werner syndrome aren’t usually noticeable until you reach puberty when you stop growing as rapidly as expected. Then, as you enter your 20s, you’ll start developing characteristics — and, in time, health conditions — associated with older age.

And Werner syndrome isn’t just about graying hair and sagging skin. Aging isn’t just a cosmetic process. Many people with Werner syndrome experience life-threatening complications of aging by their 40s or early 50s.

What are the signs and symptoms of Werner syndrome?

Signs and symptoms of Werner syndrome become noticeable as you become an adult. In your 20s, you’ll notice more signs of early aging than your same-age peers. These may include:

• Hair graying and hair loss, including the eyebrows and eyelashes.
• High-pitched or hoarse voice.
• Loss of subcutaneous adipose tissue, the layer of fat directly beneath your skin.
• Muscle wasting (atrophy).
• Premature tooth decay.
• Areas of your skin that are darker (hyperpigmentation) or lighter (hypopigmentation).
• Redness caused by widened blood vessels.
• Smooth or hard skin patches, similar to scleroderma.
• A pinched facial expression.

With Werner syndrome, you don’t just look older. Your body is actually aging faster than you’d expect for your chronological age. This means that you can also expect to develop other health concerns earlier. These may include:

• Type 2 diabetes. In fact, about 7 in 10 people with Werner syndrome develop Type 2 diabetes by age 35.
• Impaired function of your ovaries or testes (hypogonadism).
• Open skin sores (ulcers).
• Osteoporosis.
• Hardening in your arteries (atherosclerosis).
• Cataracts or macular degeneration.
• Chest pain (angina).
• Heart attack (myocardial infarction).
• Heart failure.

People with Werner syndrome also have a higher risk of developing certain cancers, including:

• Thyroid cancer.
• Melanoma.
• Osteosarcoma.
• Soft tissue sarcoma.

What causes Werner syndrome?

Werner syndrome is a genetic disorder. It occurs because of changes (mutations) in certain genes that cause the gene not to work properly. People with Werner syndrome have two mutations in the WRN gene, typically inheriting one from each parent.

How is Werner syndrome diagnosed?

Your healthcare provider will look for specific criteria to diagnose Werner syndrome. They may also use:

• Genetic tests to look for changes in the gene that causes Werner syndrome.
• X-rays to look for bone changes or tumors.

Healthcare providers may identify Werner syndrome as early as age 15. But most often, people aren’t diagnosed until they’re in their 30s or 40s. It may take that long for them to develop some of the characteristic symptoms of Werner syndrome.

How is Werner syndrome treated?

Werner syndrome treatment varies depending on the symptoms. Several specialists may coordinate your treatment plan, including:

• Endocrinologists.
• Ophthalmologists (eye care specialists).
• Orthopaedists.

Your treatment may include:

• Diabetes medications to help manage your blood sugar.
• Eyeglasses or contact lenses to correct vision problems.
• Heart medicines to manage atherosclerosis and reduce your risk of complications.
• Surgery to remove tumors, if applicable.

How can I prevent Werner syndrome?

Since Werner syndrome is a genetic condition, you can’t prevent it.

That said, if you know you and your partner are both carriers for the condition and want to have children, preimplantation genetic testing (PGT) may be an option. PGT combines genetic testing with in vitro fertilization (IVF). Embryos are tested before implantation to reduce the chances of passing gene mutations to your children.

What else should I ask my doctor?

You may also want to ask your healthcare provider:

• Should I get genetic testing for Werner syndrome?
• What are the treatment options for Werner syndrome?
• How can I reduce my risk of cancer?
• What screenings do I need to prevent Werner syndrome complications?
• What are the chances that I’ll pass Werner syndrome to my children?
• What are the chances I’ll have another child with Werner syndrome?

What conditions have similar symptoms to Werner syndrome?

Several other conditions also cause short stature and premature aging, including:

• De Barsy syndrome.
• Gottron syndrome.
• Hutchinson-Gilford syndrome.
• Mulvihill-Smith syndrome.
• Rothmund-Thomson syndrome.
• Storm syndrome.

Who discovered Werner syndrome?

A doctor named Otto Werner discovered Werner syndrome in the early 1900s. The first two symptoms he noticed were cataracts and shiny, hardened patches of skin in young patients.

How common is Werner syndrome?

Werner syndrome is rare. Since researchers first reported the condition in 1904, medical journals have only reported about 800 cases.

In the United States, experts estimate that as many as 1 in 200,000 people have Werner syndrome. Worldwide, as few as 1 in 1 million people have it.

Werner syndrome is more common in Japan and Sardinia (part of Italy), where it occurs in around 1 in 30,000 to 1 in 50,000 people. In these regions, many more people have inherited a genetic change that occurred generations ago.

A note from Cleveland Clinic

It can be difficult to learn that you or a loved one has Werner syndrome. You may feel hopeless because there aren’t any cures. But treatment can help reduce your risk of life-threatening complications. There are also things you can do to keep yourself feeling your best, like protecting your sleep, eating well, wearing sunscreen and managing stress. Ask your healthcare team for a list of resources and support groups. Hang onto that list even if you don’t feel overwhelmed right now. It might come in handy down the road.