Overview
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high levels of low-density lipoprotein (LDL) cholesterol from birth. This condition significantly raises the risk of heart disease and can lead to early heart attacks if untreated.
Types of Familial hypercholesterolemia (FH)
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Heterozygous FH:
- Most common type.
- Inherited from one affected parent.
- Symptoms typically appear in adulthood.
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Homozygous FH:
- Rare and severe form.
- Inherited from both parents.
- Symptoms manifest in childhood; if untreated, can lead to death before age 20.
Causes of Familial hypercholesterolemia (FH)
- Genetic Mutation:
- FH is caused by mutations in genes responsible for cholesterol metabolism, such as LDL receptor (LDLR), apolipoprotein B (APOB), and PCSK9 genes.
- Inheritance:
- Autosomal dominant inheritance (heterozygous FH) or autosomal recessive inheritance (homozygous FH).
Risk Factors of Familial hypercholesterolemia (FH)
- Family History:
- Having a parent with FH increases the risk.
- Genetic Profile:
- Specific mutations in LDLR, APOB, or PCSK9 genes.
- Unhealthy Lifestyle:
- Poor diet, lack of exercise, and smoking contribute to increased risk.
Symptoms of Familial hypercholesterolemia (FH)
1. Xanthomas: Yellowish deposits of cholesterol under the skin.
2. Xanthelasma: Cholesterol deposits around the eyelids.
3. Corneal Arcus: White or grayish ring around the cornea.
4. Angina or Chest Pain: Due to early coronary artery disease.
5. Early Heart Attack: Risk significantly elevated, especially in homozygous FH.
Preventions of Familial hypercholesterolemia (FH)
- Early Diagnosis:
- Genetic testing for at-risk individuals.
- Healthy Lifestyle:
- Balanced diet, regular exercise, and avoiding smoking.
Diagnosis of Familial hypercholesterolemia (FH)
- Genetic Testing:
- Identifies mutations in LDLR, APOB, or PCSK9 genes.
- Lipid Profile:
- Elevated LDL cholesterol levels.
- Physical Examination:
- Xanthomas, xanthelasma, and corneal arcus are indicative.
Treatment for Familial hypercholesterolemia (FH)
-
Lifestyle Modifications:
- Diet low in saturated fats and cholesterol.
- Regular physical activity.
-
Medications:
- Statins: Reduce LDL cholesterol production.
- Ezetimibe: Blocks cholesterol absorption.
- PCSK9 Inhibitors: Lower LDL cholesterol levels further.
-
Apheresis:
- Removes LDL cholesterol from blood directly in severe cases.
When to seek medical attention ?
- Family History:
- Immediate relatives diagnosed with FH.
- Symptoms:
- Xanthomas, chest pain, or other signs of heart disease.
- Concerns:
- About cholesterol levels despite healthy lifestyle efforts.
