Rare genetic disorder speeds up ageing: Werner syndrome explained

Werner syndrome is a rare genetic disorder that causes premature ageing, sometimes called adult progeria.

Signs are not usually noticeable until puberty, when growth slows more than expected. By the 20s, affected individuals begin showing traits and health issues typically seen in much older people, with life-threatening complications often appearing in the 40s or early 50s.

The first symptoms frequently emerge around age 13, when people stop growing as expected.

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Common early signs include hair loss, early greying, loss of bone density and muscle wasting. As the disorder advances, individuals may face vision problems, skin conditions, diabetes or heart problems.

In the 20s, further signs of early ageing appear, such as hair greying and loss, including the eyebrows and eyelashes, a high-pitched or hoarse voice, loss of the fat layer beneath the skin, premature tooth decay, areas of darker or lighter skin, redness from widened blood vessels, smooth or hard skin patches similar to scleroderma, and a pinched facial expression. Beyond appearance, the body ages faster internally.

This leads to type 2 diabetes in about seven in 10 cases by age 35, impaired function of the ovaries or testes, open skin sores, osteoporosis, hardening of the arteries, cataracts or macular degeneration, chest pain, heart attack, heart failure, and a higher risk of certain cancers, including thyroid cancer, melanoma, osteosarcoma and soft tissue sarcoma.

The condition stems from changes in the WRN gene, with people inheriting two mutated copies, one from each parent. Healthcare providers diagnose it by checking for specific criteria, often using genetic tests to identify the gene changes or X-rays to spot bone alterations or tumours.

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While it can be identified as early as age 15, most diagnoses occur in the 30s or 40s once characteristic symptoms develop.

Treatment focuses on managing individual symptoms and may involve a team of specialists such as endocrinologists, ophthalmologists and orthopaedists.

Options include diabetes medications to control blood sugar, eyeglasses or contact lenses for vision issues, heart medicines to address artery hardening and lower complication risks, or surgery to remove tumours where needed.

Because Werner syndrome is genetic, it cannot be prevented. However, couples who know they are both carriers and plan to have children may consider preimplantation genetic testing combined with in vitro fertilisation to test embryos before implantation and reduce the chance of passing on the mutations.

Patients and families often ask about genetic testing, available treatment choices, ways to lower cancer risk, necessary screenings to avoid complications, and the likelihood of passing the condition to children.

Several other disorders share similar features of short stature and premature ageing, such as De Barsy syndrome, Gottron syndrome, Hutchinson-Gilford syndrome, Mulvihill-Smith syndrome, Rothmund-Thomson syndrome and Storm syndrome.

A doctor named Otto Werner first identified the condition in the early 1900s after noting cataracts and shiny, hardened skin patches in young patients. Since its initial report in 1904, medical literature has documented only about 800 cases worldwide.

In the United States, it affects as few as one in 200 000 people, while globally the rate is as low as one in a million. It occurs more frequently in Japan and Sardinia in Italy, at rates of about one in 30 000 to one in 50 000, linked to a genetic change passed down through generations in those areas.

This information was sourced from my.clevelandclinic.org as part of educating the public more about such health issues.

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