What is Familial Hypercholesterolemia?
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically elevated low-density lipoprotein (LDL) cholesterol. It is a significant health concern as it increases the risk of cardiovascular diseases, including heart attacks and strokes at an early age.
Causes
FH is primarily caused by mutations in genes responsible for the metabolism of LDL cholesterol, most commonly in the LDL receptor gene. These mutations obstruct the liver's ability to remove LDL cholesterol from the bloodstream effectively, leading to its accumulation.
Symptoms
Many individuals with FH do not experience symptoms until they develop heart disease. However, physical signs may include:
- Corneal arcus (a gray or white arc visible around the cornea)
- Tendon xanthomas (yellowish nodules in tendons)
- Yellowish patches on skin (xanthelasmas)
Diagnosis
Diagnosis involves measuring cholesterol levels, family history assessment, and genetic testing. Early identification is crucial for effective management.
Management and Treatment
Managing FH typically requires lifestyle modifications alongside medications such as statins to lower cholesterol levels. Regular check-ups with healthcare providers are essential to monitor heart health and adjust treatment plans accordingly.
Conclusion
Familial hypercholesterolemia is a manageable genetic condition, but awareness and proactive care are vital in preventing serious cardiovascular complications.