Interested to Buy Any Domain ? << Click Here >> for more details...
Answer Posted / admin
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)
Do you have any specific questions about Familial Hypercholesterolemia?
| Is This Answer Correct ? | 0 Yes | 0 No |
Post New Answer View All Answers
Aromatic compounds generally undergo which type of reactions?
How are free energy, equilibrium and spontaneity related to each other?
Explain who proposed law of mass action?
What is hoffman degradation method?
What are the units of ph?
What are the units of bond length?
Define lattice energy?
What does the expression –dc/dt indicates?
What is the molecular formula of phosphorous?
What is the constitution of proteins?
Which branch of science deals with the transformation of chemical energy into electrical energy and vice versa?
ano po ba ang bermuda triangle? ano po ang nandito? meron po bang mga naitala na aksidente sa gawing ito? ano po ang scientific question nito?
Why can it be said that the enzymatic action is highly specific?
give the formula of borax. Borax is chemically called as.
Which compound is involved in reducing levels of homocysteine in the blood?
