To highlight the importance of early diagnosis, treatment, and prevention of the long-term complications of homocystinuria, Hamad Medical Corporation’s (HMC) Department of Dietetics and Nutrition and the Clinical and Metabolic Genetics Division recently organized an awareness day for children and adults with the disorder. Homocystinuria is a rare but potentially serious inherited condition in which the body is unable to properly process certain building blocks of proteins. The condition is characterized by long-term complications and requires lifelong management.
The awareness day, which was held for the eighth consecutive year, saw a number of patients, as well as their family members, share their experiences living with the disorder.
Ms. Reem Al Saadi, Director of Dietetics and Nutrition at HMC, said the event aimed to draw attention to the disease and to help connect families who have a child or other relative with homocystinuria with a supportive community of people who have experience living with, and expertise treating the condition.
“Every year we organize this event to demonstrate our commitment to raising awareness about this rare genetic disease and to improving the quality of life for children and adults living with homocystinuria. This event also allows us to help ensure the families of patients with homocystinuria know about the disorder and some of the challenges, and potential difficulties, being faced by their loved one,” said Ms. Al Saadi.
Dr. Tawfeg Ben-Omran, Senior Consultant, Pediatrics, and Head of Clinical and Metabolic Genetics at HMC said homocystinuria results from significantly elevated levels of the amino acid homocysteine. He noted that those with the disorder cannot break down foods containing protein in the usual way and said without appropriate medical care and treatment, individuals with homocystinuria are at risk for a number of health conditions such as delayed cognitive and physical development, eye problems, bone deformities, nervous system and cardiac conditions, blood clots, and strokes.
“Homocystinuria is a chronic condition that requires lifelong monitoring and management. People with homocystinuria can manage their condition with a special diet and medication. People with this condition need to seek appropriate medical care. Early diagnosis and prompt treatment are essential for improved prognosis,” said Dr. Ben-Omran.
Dr. Ben-Omran said the treatment of babies born in Qatar with homocystinuria and other rare disorders and genetic conditions has been improved through the establishment of the National Newborn Screening Program in 2003. Under the national program, all babies born in Qatar are screened for metabolic and endocrine diseases and disorders within 72 hours of birth.
“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. It is important to note that when diagnosed early, treatment can be very effective in reducing the risk of serious complications. However, if left untreated, this inherited disorder can lead to a range of health conditions. Early detection of rare diseases helps eliminate potential complications as treatment, such as special therapeutic feeding programs and medical intervention can ultimately improve long-term health outcomes for patients,” added Dr. Ben-Omran.
Ms. Al Saadi said early diagnosis and lifelong treatment are the best ways to prevent complications and notes that diet is an important part of managing homocystinuria. She says with strict adherence to applicable medication regimens and a low-protein diet, most homocystinuria patients can prevent or delay many health complications of the disorder.
“A low-protein diet limits the methionine a person eats to keep their homocysteine levels under control. Specialist dietitians can suggest low-protein foods and menus. Most patients with this condition must avoid foods such as meat, fish, eggs, and milk. It’s important for homocystinuria patients to work with their healthcare team and to follow their treatment plan to prevent or lessen further damage to areas of the body that are affected by high homocysteine levels,” added Ms. Al Saadi.