The death of a 15-year-old boy with an aggressive form of heart-related Gaucher disease underscores the importance of early diagnosis of the condition, physicians said.
Their case study of the teen, whose disease was caused by two copies of a mutation known as D409H, was published in the journal Cardiology in the Young. The article was titled “Severe Cardiac Involvement In Gaucher Type IIIC: A Case Report And Review Of The Literature.”
Gaucher is caused by mutations of the GBA1 gene. Patients can have a wide variety of symptoms, including neurological.
There are three Gaucher subtypes, depending on the presence and severity of neurological symptoms:
- Type I. No neurological symptoms, which occurs in 95 percent of cases.
- Type II. Acute neurological symptoms.
- Type III. Persistent neurological symptoms.
Patients with type IIIC Gaucher disease are an even rarer subgroup. They have cardiovascular symptoms, eye movement disorders and late-onset neurological symptoms. Many of them carry two copies of the D409H mutation.
Doctors said the 15-year-old boy had a three-month history of losing consciousness for brief periods of time while engaging in physical activity. Although his parents were first cousins, all of his siblings were healthy and the family had no history of disease.
Several symptoms prompted doctors to diagnose the boy with type IIIC Gaucher. They included a large spleen; damage to the aorta, or main artery of the body; eye movement anomalies; and decreased levels of the β-glucosidase protein. Genetic analysis revealed that the teen carried two copies of the D409H mutation.
Doctors put the boy on an enzyme replacement therapy known as Cerezyme (imiglucerase). It leads to patients having more β-glucosidase.
The boy’s heart failed after he took six months of enzyme replacement therapy, plus β-blockers for his heart condition and angiotensin-converting enzyme inhibitors.
“Our case illustrates that a late diagnosis leads to disease progression and increased morbidity and mortality,” the doctors wrote. “In conclusion, despite the fact that enzyme-replacement therapy can reduce glucocerebroside storage [the substance that accumulates in Gaucher patients’ cells], relieving some symptoms, such as bone pain, cannot resolve existing [damage]; therefore, early diagnosis would significantly reduce morbidity and mortality in such patients.”