Familial hypercholesterolemia is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol, and early cardiovascular disease. Its most common mutations diminish the number of functional LDL receptors in the liver or produce abnormal LDL receptors that never reach the cell surface to function properly. People with one abnormal gene copy may develop cardiovascular disease prematurely at age 30 to 40, while those with two abnormal copies may develop severe cardiovascular disease in childhood.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 1 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Connections
Treated By
Source LDL apheresis (Wikipedia)
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IVQuote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health OrganizationMain Types sectionQuote, Main Types section
The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
3. Wikipedia: Familial hypercholesterolemia
Wikipedialead sentence 1
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases.
Section: History (first-described-year)
The Norwegian physician Dr Carl Müller first associated the physical signs, high cholesterol levels, and autosomal dominant inheritance in 1938.
Lead section, transmission-route statement
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the blood and early cardiovascular diseases.
View the Source Wikidata: Familial Hypercholesterolemia
Wikidata Q2711291, class allow-list match (w-wdresolver-0926)View the Source LDL apheresis (Wikipedia)
Treated By: LDL Apheresis, UsesQuote, Treated By: LDL Apheresis, Uses
It is used in diseases featuring high LDL, such as the rare homozygous familial hypercholesterolemia, when the heterozygous form does not respond to medical treatment, or when the treatment has led to dangerous side-effects (such as rhabdomyolysis).
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