Early Detection is Key for Rare Diseases

Early Detection is Key for Rare Diseases

Dr Tawfeg Ben-Omran, Senior Consultant, Paediatrics at Hamad Medical Corporations (HMC), says early detection of rare diseases like Homocystinuria (HCU) is key to successfully managing the disorder. HCU is a serious genetic disease characterised by long-term complications. When left untreated, HCU can lead to bone damage, vision problems, brain damage, and blood clots. Babies born with this disease often show no warning signs during early life, and severe symptoms can develop later without treatment.

“Left undiagnosed and untreated, the condition can cause cognitive and physical developmental delays. It can also lead to vision problems, weak bones (osteoporosis), bone and joint problems, neurological and cardiac problems, blood clots and early stroke.”

“Homocystinuria is an inherited disorder that prevents the body from processing the essential amino acid methionine. It causes a build-up of the amino acid homocysteine in the blood and urine. Put more simply, when we eat our bodies break down the food and homocysteine is made. In most people, homocysteine is broken down further but for a person with Homocystinuria, this step cannot be completed. Patients with Homocystinuria will require daily medication, a special diet, and ongoing treatment from a specialist physician and therapeutic nutritionist who may recommend a special diet. Left undiagnosed and untreated, the condition can cause cognitive and physical developmental delays. It can also lead to vision problems, weak bones (osteoporosis), bone and joint problems, neurological and cardiac problems, blood clots and early stroke,” said Dr Ben-Omran.

There are multiple forms of HCU and the types are distinguished by their signs and symptoms and genetic cause. One in 200,000 people are affected by the most common type of HCU worldwide. The incidence rates differ between countries, with Qatar having the highest rate in the world.

“It is important to note that when diagnosed early, treatment can be very effective in reducing the risk of serious complications.”

“If both parents are carriers, they have a 25 percent chance of having a child with Homocystinuria. Like many genetic diseases, Homocystinuria runs in families and like many hereditary diseases, marriage between relatives plays a role. However, it is important to note that when diagnosed early, treatment can be very effective in reducing the risk of serious complications. Patients with this condition will require life-long medical intervention but with early diagnosis and the correct treatment, the majority of children with Homocystinuria are able to live healthy lives,” said Dr  Ben-Omran.

Dr Ben-Omran was trained in clinical and metabolic genetics at Canada’s Hospital for Sick Children and is an expert in genetic disorders affecting the Arab population. He says conditions like HCU underscore the importance of increasing public awareness about rare disease as well as available screening.

Source: The Peninsula Qatar 2018, https://www.thepeninsulaqatar.com/article/28/02/2018/Early-detection-key-to-best-treatment-of-rare-diseases-Expert