What is Familial Hypercholesterolemia?
Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically elevated levels of low-density lipoprotein (LDL) cholesterol, which increases the risk of cardiovascular diseases. This condition is inherited in an
autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disorder if one parent is affected.
What are the Causes?
FH is primarily caused by mutations in the
LDLR gene, which encodes the LDL receptor responsible for removing LDL cholesterol from the bloodstream. Mutations in other genes such as
APOB and
PCSK9 can also lead to FH. These genetic mutations result in reduced clearance of LDL cholesterol, leading to its accumulation in the blood.
What are the Symptoms?
Children with FH may not show obvious symptoms initially. However, signs can include
xanthomas (cholesterol deposits in the skin, especially around the eyes, elbows, and knees),
corneal arcus (a white or gray ring around the cornea), and early onset of cardiovascular diseases. Elevated cholesterol levels are usually detected through blood tests.
How is FH Diagnosed?
Diagnosing FH in children typically involves a combination of family history, physical examination, and
lipid profile tests. Genetic testing can confirm the diagnosis by identifying mutations in the relevant genes. Early diagnosis is crucial for effective management and prevention of cardiovascular complications.
What are the Treatment Options?
Treatment for FH in children includes lifestyle modifications and medications.
Dietary changes such as reducing saturated fats and cholesterol intake, increasing physical activity, and maintaining a healthy weight are essential. Medications like
statins may be prescribed to lower LDL cholesterol levels. Other drugs such as
ezetimibe and PCSK9 inhibitors may also be used.
What is the Prognosis?
With early diagnosis and appropriate management, children with FH can lead healthy lives. However, if left untreated, they are at a significantly higher risk of developing cardiovascular diseases at a younger age. Regular follow-up with a
pediatric cardiologist and lipid specialist is essential for ongoing management and monitoring of cholesterol levels.
Can FH be Prevented?
Since FH is a genetic disorder, it cannot be prevented. However, early detection through family screening and genetic counseling can help manage the condition effectively and reduce the risk of complications. Parents with a history of FH should consider genetic testing for their children.
Why is Awareness Important?
Increasing awareness about FH is critical for early diagnosis and intervention. Educational programs aimed at healthcare providers and the general public can help identify affected individuals and families, ensuring timely management and reducing the burden of cardiovascular diseases associated with FH.
