Werner Syndrome: Explaining the Rare Genetic Disorder Behind South African Woman’s Rapid Ageing

• A South African woman has been diagnosed with a rare genetic disorder that causes rapid, premature ageing
• Individuals with Werner Syndrome also face an increased risk of some cancers and cardiovascular disease
• Werner Syndrome affects roughly 1 in 1 million people worldwide, but Japan has a higher concentration of cases

Byron Pillay, a Briefly News journalist, has dedicated a decade to reporting on the South African political landscape, crime, and social issues. He worked as a newspaper journalist for 10 years before transitioning to online.

KWAZULU-NATAL – Imagine living life with a rare genetic disorder that many medical professionals don’t have much experience with.

That’s what Snenhlanhla Khoza and her family have to deal with daily. The 31-year-old from Khulwa village in Mtubatuba recently made headlines after her tragic story was shared on various social media platforms.

Khoza’s story drew attention when her appearance changed drastically over time, and no one could explain why she aged so rapidly. She has not been diagnosed with Werner Syndrome, but what is it?

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What is Werner Syndrome?

Named after Otto Werner, the German medical student who first described the condition, it is a rare genetic disorder that causes rapid, premature ageing.

Werner Syndrome affects roughly 1 in 1 million people worldwide. It is caused by mutations in the WRN gene, which is responsible for DNA repair and maintenance.

In a person with Werner syndrome, their WRN malfunctions, resulting in the body’s cells tricking themselves into thinking they are very old and stop dividing. This causes the body to experience the physical traits of ageing, like developing grey hair, cataracts, and wrinkled skin.

It also leads to an increased risk of cancer and cardiovascular disease.

When do symptoms first show?

Individuals with Werner Syndrome generally develop normally until they reach puberty. In many cases, signs of the disease only become noticeable when a person reaches their 20s. Then they normally experience early greying and hair loss, skin thinning, voice changes and eye and skin issues.

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Individuals are also more prone to metabolic disorders like Type 2 diabetes and osteoporosis, as well as vascular diseases. There is also an elevated risk of rare cancers.

Is there a cure?

Sadly, there is currently no cure for Werner Syndrome. With no available cure, the primary focus is on symptom management and delaying any complications of the rapid ageing.

This included routine monitoring for any cardiovascular and metabolic disorders, as well as surgical removal of cataracts to preserve vision, and regular cancer screenings.

Japan has the highest concentration of Werner Syndrome cases

While the disease is extremely rare globally, certain places have experienced significantly higher prevalence of cases.

Japan has the highest concentration of Werner Syndrome cases in the world, with 1 in 30,000 to 1 in 50,000 people being diagnosed with it. 60% to 80% of all globally reported cases have come from Japan. The Mediterranean island of Sardinia also features an unusually high frequency of the WRN gene mutation.

There have been a small number of cases documented in Africa, with a notable case being reported in Nigeria in 1988. There have also been a few individual cases in North African countries, but the disease is not encountered often on the continent.

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Because conditions like Werner Syndrome are exceptionally rare globally, and particularly in Africa, there remains a social stigma about it on the continent. As with Khoza’s case, it’s often considered part of a curse or being bewitched, instead of being viewed as a serious medical condition.

Mother of teen with rare condition appeals for help

Briefly News also reported that the mother of a disabled teenage girl from the Eastern Cape pleaded with South Africans for help.

Yamkela Mafiyane from Ziphunzana was born with deformed and weakened lower limbs and is unable to support her own body weight or walk.

Her family transports her in a small plastic washtub that frequently breaks, prompting her mother to appeal to Mzansi for assistance.

Source: Briefly News