JACC. Case reports · 2025
Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Maidman Samuel D, Gurevitz Chen, Rosenson Robert S
Аннотация
BACKGROUND: The development of tendinous xanthomas in childhood with a low-density lipoprotein (LDL) cholesterol level >400 mg/dL is characteristic of homozygous familial hypercholesterolemia (FH).
CASE SUMMARY: We present the case of a patient with a severely elevated LDL cholesterol level and childhood-onset xanthomas who fulfilled clinical criteria for homozygous FH. However, genetic and absorption testing clarified his phenotype to be a unique digenic overlap of both heterozygous FH and heterozygous sitosterolemia with marked elevations in cholesterol absorption indices. Treatment with ezetimibe 10 mg daily resulted in a dramatic reduction in LDL cholesterol.
DISCUSSION: Sitosterolemia, a rare autosomal recessive disorder of plant sterol hyperabsorption, can also result in xanthomatosis and thus can mimic FH. Although it is usually a homozygous disease, heterozygotes may exhibit intermediary phenotypes.
TAKE-HOME MESSAGES: Patients with severe hypercholesterolemia should undergo genetic and biochemical profiling for diagnostic confirmation and for ensuring that they receive optimal, personalized therapy.
CASE SUMMARY: We present the case of a patient with a severely elevated LDL cholesterol level and childhood-onset xanthomas who fulfilled clinical criteria for homozygous FH. However, genetic and absorption testing clarified his phenotype to be a unique digenic overlap of both heterozygous FH and heterozygous sitosterolemia with marked elevations in cholesterol absorption indices. Treatment with ezetimibe 10 mg daily resulted in a dramatic reduction in LDL cholesterol.
DISCUSSION: Sitosterolemia, a rare autosomal recessive disorder of plant sterol hyperabsorption, can also result in xanthomatosis and thus can mimic FH. Although it is usually a homozygous disease, heterozygotes may exhibit intermediary phenotypes.
TAKE-HOME MESSAGES: Patients with severe hypercholesterolemia should undergo genetic and biochemical profiling for diagnostic confirmation and for ensuring that they receive optimal, personalized therapy.