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Werner Syndrome

Werner Syndrome





Overview

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.

Symptoms

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.

Causes

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.

Diagnosis

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.

Treatment

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.

Type of Doctor Department : An internists, endocrinologists, ophthalmologists, and cardiologists

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