Boy with rare disease receives liver transplant

A 9-year-old boy with a rare genetic condition got the birthday gift of a lifetime in the form of a long-awaited liver transplant, a local hospital said on Monday.

The boy suffers from familial hypercholesterolemia, an inherited condition where patients experience high cholesterol from birth due to genetic defect. Their cholesterol levels are six to eight times those of normal people, and patients will develop serious atherosclerosis, causing fatal complications for the cerebral and cardiovascular systems.

It's a rare metabolic disease with incidence of one in every 150,000 to 300,000 people. Patients usually start to show symptoms of coronary disease at the age of 10. Cholesterol medication has no effect on such patients, who can die before 30 if they don't receive a liver transplant, said doctors from Renji Hospital affiliated to Shanghai Jiao Tong University School of Medicine.

The boy was confirmed to have the disease through genetic testing at the age of 2, after his parents found yellow lumps on his limbs.

The family took the boy to Renji Hospital, which is famed for pediatric liver transplants, early this month and doctors said he should receive a transplant as soon as possible. Since both his parents are carriers of the mutated gene, the boy was put on a waiting list for a matched liver.

The family received good news on Saturday, the boy’s ninth birthday. Doctors conducted the transplant surgery at night and the boy is recovering well.

Familial hypercholesterolemia is the most common cause of inherited high cholesterol in children, and the most serious. Parents should take their children for medical treatment if they notice yellow bumps on the skin or coronary symptoms, said Dr Xia Qiang from Renji.

Ti Gong