Doctors said yesterday that Fabry’s disease, which is more prevalent in Taiwan than in any other country, may be the root cause of hypertrophic cardiomyopathy (HCM), or “fat heart muscles,” an illness that is difficult to pinpoint.
About 7,000 people in Taiwan have been diagnosed with HCM for no obvious reason, said Lin Shing-jong (林幸榮), chief of Taipei Veterans General Hospital’s Division of Cardiology.
“Because doctors are unable to pinpoint the cause [of HCM], the condition of many patients worsens until eventually they need a heart transplant,” Lin said.
Through ongoing newborn screening projects at the Neonatal Screening Center of the Chinese Foundation of Health, doctors discovered that babies born in Taiwan have the highest prevalence rate of Fabry’s disease in the world — one out of every 1,600 babies has an atypical variant of Fabry’s disease, which may cause heart muscles to start to thicken between the ages of 40 and 50.
Fabry’s disease is a genetic disorder that causes a deficiency of enzymes in charge of processing globotriaosylceramide, which leads to a build-up of fat in lysosomes that can harm various organs such as the heart and kidneys, as well as the blood vessels and nerves that surround the organs, said Niu Dau-ming (牛道明), director of the hospital’s Medical Genetic Center.
The disease may manifest in the heart and is difficult to diagnose because patients with the condition do not develop clear symptoms until later on, he said.
Symptoms usually include ventricular hypertrophy, an unstable heart rate, a heart “murmur” and pain in the chest.
“Treatment should start as soon as the symptoms start to develop,” he said.
Treatment methods include enzyme replacement therapy, which is performed every two weeks and continues for the rest of the patient’s life.
People affected with this disease usually do not have any symptoms until they reach about 40 to 50 years old, he said.
“Children [without any symptoms] do not need treatment, but the important thing is to determine whether family members of the child [with Fabry’s disease] have the disease as well,” Lin said.
The doctors described a case where a mother was told her baby had Fabry’s disease after undergoing newborn screening. Because the disease is hereditary, the doctors urged other family members who had HCM to get tested for Fabry’s disease. The results came back positive, and the family members were able to receive treatment while the condition was still in its early stages.
Because of Taiwan’s high prevalence of Fabry’s disease, Niu urged those with symptoms to “get a blood test, don’t hesitate.”