Null variant homozygous familial hypercholesterolaemia: genetic analysis and 34 years follow-up
Year: 2024
Type: article
Study design: Case Report
Abstract: A seven-year-old girl presented with lack of energy, a systolic heart murmur, total cholesterol of 18.7 mmol/L and skin xanthomas. During aortic valve surgery, atheroma was found in the ascending aorta. Initial treatments were diet, lipid-regulating medication and lipoprotein apharesis followed by aortic valve replacement and coronary artery bypass grafting. At age 17 years she had a combined heart and liver transplant. Thirteen years later she developed a recurrence of ischaemic heart disease symptoms and autoimmune chronic liver disease and hence was given a second liver transplant. She died from a cardiac arrest at the age of 41 years caused by cardiac allograft immune vasculopathy. Genome analysis showed two mutations in the LDL receptor gene, confirming a diagnosis of homozygous familial hypercholesterolaemia. Complete loss of LDL receptor function was demonstrated on fibroblast bioassay. New LDL receptor- independent therapies for homozygous familial hyper- cholesterolaemia have recently become available.
Source: British Journal of Diabetes
Author: Charles Van Heyningen
Institution: Royal College of Pathologists
Language: English
Subfield: Surgery
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
Funder: Medical Research Council
OpenAlex ID: W4403728379