The Lifelong Burden of Homozygous Familial Hypercholesterolemia
| Autor: | Latifah Alothman, Patrick Couture, Jacques Genest, Alexandre M. Bélanger, Ambuja Banerjee, Isabelle Ruel, Jean Bergeron |
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| Rok vydání: | 2019 |
| Předmět: |
Male
medicine.medical_specialty Fatal outcome Familial hypercholesterolemia 030204 cardiovascular system & hematology Hyperlipoproteinemia Type II 03 medical and health sciences 0302 clinical medicine Fatal Outcome Cost of Illness Internal medicine medicine Cost of illness Humans 030212 general & internal medicine Lipoprotein cholesterol business.industry Homozygote Clinical course Premature coronary artery disease Middle Aged medicine.disease 3. Good health Cardiology and Cardiovascular Medicine business Lipoprotein |
| Zdroj: | The Canadian journal of cardiology. 35(10) |
| ISSN: | 1916-7075 |
| Popis: | Homozygous familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor gene. It is diagnosed in children or youth who present with extensive tendinous and cutaneous xanthomas and extreme elevation of low-density lipoprotein cholesterol. Untreated, premature coronary artery disease develops in the teenage years or earlier and survival to ages older than 30 years is rare. Herein we describe the clinical course of a patient with homozygous familial hypercholesterolemia treated according to the standards of care and experimental approaches. Despite aggressive therapies, atherosclerosis in all vascular beds progressed, leading to the patient's demise at age 59 years, highlighting the importance of early diagnosis and appropriate follow-up. |
| Databáze: | OpenAIRE |
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