Posted on February 27, 2018

Hamad Medical Corporation’s (HMC) Head of Clinical and Metabolic Genetics says early detection is the key to successfully managing rare conditions like Homocystinuria,  a serious genetic disease characterized 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 damage, vision problems, brain damage, and blood clots.

Dr. Tawfeg Ben-Omran, who is also a Senior Consultant, Pediatrics at HMC, says 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 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.

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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, is diagnosed early (ideally through newborn screening).

“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.

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Trained in clinical and metabolic genetics at Canada’s Hospital for Sick Children, Dr. Ben-Omran is recognized 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. “The Newborn Screening Program 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,” added Dr. Ben-Omran.

Rare Disease Day takes place on the last day of February each year. It is a global event to raise awareness of the 7,000 different rare diseases. The goal of the Day is to connect patients, families, caregivers, and patient organizations; to provide opportunities for patients and parents to share their stories; and to promote education, awareness, research, and advocacy.