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Familial Hypercholesterolemia (FH) is a genetic disorder characterized by extremely high levels of low-density lipoprotein (LDL) cholesterol, often referred to as "bad" cholesterol. It affects approximately 1 in 250 people worldwide.
*Causes and Genetics:*
FH is caused by mutations in the LDL receptor gene (LDLR), apolipoprotein B gene (APOB), or other genes involved in lipid metabolism. These mutations lead to:
1. Impaired LDL receptor function
2. Reduced LDL clearance from the bloodstream
3. Increased LDL production
*Inheritance Pattern:*
FH is an autosomal dominant disorder, meaning:
1. A single copy of the mutated gene is sufficient to cause the condition.
2. Each child of an affected parent has a 50% chance of inheriting the mutated gene.
*Symptoms and Complications:*
FH can lead to:
1. Premature cardiovascular disease (CVD)
2. Atherosclerosis (plaque buildup in arteries)
3. Coronary artery disease
4. Heart attacks and strokes
5. Peripheral artery disease
6. Xanthomas (yellowish skin growths) on hands, feet, and buttocks
7. Xanthelasma (yellowish patches) around the eyes
8. Arcus senilis (white, gray, or blue ring around the cornea)
*Diagnosis:*
1. Blood tests: Measure LDL cholesterol levels (>190 mg/dL)
2. Genetic testing: Identify LDLR, APOB, or other gene mutations
3. Physical examination: Look for xanthomas, xanthelasma, and arcus senilis
4. Family history: Assess FH risk in relatives
*Treatment and Management:*
1. Statins: Lower LDL cholesterol levels
2. Ezetimibe: Reduce dietary cholesterol absorption
3. PCSK9 inhibitors: Enhance LDL receptor function
4. LDL apheresis: Remove excess LDL from the blood
5. Lifestyle modifications:
- Healthy diet
- Regular exercise
- Weight management
- Smoking cessation
*Types of FH:*
1. Heterozygous FH (HeFH): One mutated gene; LDL levels 2-5 times normal
2. Homozygous FH (HoFH): Two mutated genes; LDL levels 5-10 times normal
3. Compound heterozygous FH: Two different mutated genes
*Prognosis:*
Untreated FH can lead to:
1. Premature death (average age 45-50)
2. Increased CVD risk
Early diagnosis and treatment can significantly improve outcomes.
*Screening Recommendations:*
1. Universal screening: All adults ≥20 years
2. Family screening: First-degree relatives of FH patients
3. Cascade screening: Test relatives of newly diagnosed FH patients
*Current Research:*
1. Gene therapy
2. RNA interference
3. Novel LDL-lowering therapies
For more information:
1. National Lipid Association (NLA)
2. American Heart Association (AHA)
3. National Institutes of Health (NIH)
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