Early Detection is Key to Treatment of Rare Diseases, says HMC Expert
Qatar thought to have world’s highest incidence rate of Homocystinuria
The Head of Clinical and Metabolic Genetics at Hamad Medical Corporation (HMC) said that early detection is key to successfully manage rare conditions like Homocystinuria, a serious genetic disease characterised by long-term complications. If left untreated, the inherited disorder, which interferes with the body’s ability to break down protein, can lead to bone and brain damage, vision problems and blood clots.
Dr Tawfeg Ben-Omran, also a Senior Consultant, Paediatrics at HMC, said that early detection of rare diseases like Homocystinuria helps eliminate potential complications and ultimately improve long-term health outcomes for patients. He says babies born with this disease often show no warning signs during early life, but severe symptoms can develop later without treatment.
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. 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.
There are multiple forms of Homocystinuria, with the various types distinguished by their signs and symptoms and genetic cause. The most common form of the disease is thought to affect around 1 in 200,000 people worldwide. The disorder is more common in some countries, with Qatar having one of the world’s highest incidence rates. According to Dr Ben-Omran, genetic disorders are often more common in populations that have a high incidence of close blood marriages. He says that while a Homocystinuria diagnosis can be overwhelming for patients and their families, it is a highly treatable disease, if diagnosed early (ideally through newborn screening).
If both parents are carriers, they have a 25% 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 correct treatment, majority of children with Homocystinuria are able to live healthy lives.’
Trained in clinical and metabolic genetics at Canada’s Hospital for Sick Children, Dr Ben-Omran is recognised as an expert in genetic disorders affecting the Arab population. He says conditions like Homocystinuria underscore the importance of increasing public awareness about rare diseases as well as available screening.
Newborn Screening Programme is provided free of charge to all babies delivered in Qatar and currently screens for over 30 diseases or disorders. Homocystinuria is one of the conditions that we screen for and I’d encourage any parents who have not had their child screened to contact their doctor to arrange for testing.’
Rare Disease Day is observed annually on the last day of February. It is a global event to raise awareness on the 7,000 different rare diseases and to connect patients, families and caregivers affected by rare diseases.
For more information about Homocystinuria and enquiries about available treatment in Qatar, visit the HMC website at hamad.qa.