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Homozygous familial hypercholesterolemia: Summarized case reports
Kurt Widhalm1, Ina Michel Benke1, Michael Fritz2
1Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
Atherosclerosis
|January 28, 2017
Summary
Early treatment for homozygous familial hypercholesterolemia (hoFH) is crucial. Prompt intervention with apheresis and drugs can delay atherosclerosis and improve life expectancy for pediatric patients.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Homozygous familial hypercholesterolemia (hoFH) is a rare genetic disorder.
- It can lead to severe atherosclerosis in children.
Observation:
- Nine hoFH patients diagnosed and treated with apheresis and drugs over 30 years.
- Two deaths occurred before effective treatment; others remain in good condition.
- Four patients developed aortic stenosis or arterial plaques.
Findings:
- Early and adequate treatment is essential.
- Newer medications may improve outcomes and survival rates for hoFH patients.
Implications:
- Initiating treatment as early as possible can delay atherosclerosis onset.
- Advancements in pharmacotherapy offer hope for improved long-term prognosis in hoFH.
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