The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young

Abstract

Familial homozygous hypercholesterolemia is a potentially dangerous risk factor that can result in premature coronary arterial disease in children and young adults. This can result in severe morbidity and premature death in young individuals. We also emphasise the need to screen first-degree relatives and extended family members, this playing an important role in early detection and treatment. Despite recent advances in treatment using lipid lowering agents, the disease remains a significant challenge.

Accelerated coronary atherosclerosis and H syndrome

“…The aetiology may be either congenital, as a result of various congenital cardiac malformations (coronary arterial anomalies, transposition of the great vessels following an arterial switch procedure, aortic valvular and supravalvular stenosis, pulmonary atresia) or acquired (autoimmune vasculitis, Kawasaki disease, trauma, or endocarditis) 1. Familial homozygous hypercholesterolemia, other conditions associated with dyslipidemia2 3 and prothrombotic disorders, especially when associated with coronary anomalies4 are also risk factors for premature coronary arterial disease in children and young adults. Although IDDM is associated with an increased risk of cardiovascular complications and early signs of atherosclerosis are often seen in children and adolescents with diabetes, these are clinically silent at this age and paediatric macrovascular complications are rare 5.…”

Drug-eluting Stents in Premature Coronary Disease in Young People with Homozygous Familial Hypercholesterolemia and Prior Liver Transplant. A Report of Two Cases

“…Recently, Shankarappa RK et al [14] reported 5 patients treated at the Sri Jayadeva Cardiology Institute in Bangalore, India. Four men and one woman.…”

“…Homozygous FH is associated with coronary artery disease and premature death, with several reports of individuals under 17 years of age who developed severe coronary artery stenosis [2,14] and supravalvular aortic stenosis [15], an increase in intima-media thickness of the carotid and femoral arteries [16], and tendinous xanthomas caused by cholesterol deposits on tendons and skin, observed mainly on the elbows, knees, Achilles heel, and dorsum of hands and feet. Tendinous xanthomas are highly suggestive of homozygous FH and are a basic criterion in the clinical diagnosis of this disease.…”

Hipercolesterolemias graves en pediatría. Presentación de dos casos

“…Antes de los 30 años, y muchas veces en la primera década de la vida, puede haber muerte súbita, insuficiencia coronaria e infarto agudo de miocardio. 7,8 El objetivo del tratamiento en estos pacientes es evitar, o por lo menos demorar, el compromiso de la válvula aórtica y la enfermedad coronaria. Si el tratamiento hipolipemiante comienza después de los 10 años, como se recomienda para otro tipo de dislipemias, no alcanza para prevenir la estenosis aórtica.…”