What Are The Presenting Features Of Homozygous Familial Hypercholesterolemia?

Homozygous Familial Hypercholesterolemia is an inherited medical condition, which is characterized by abnormally high levels of LDL cholesterol.⁽¹⁾ This happens when the genetic makeup of the body does not allow elimination of LDL cholesterol from the blood. LDL levels in Homozygous Familial Hypercholesterolemia become so high that the affected individual is at imminent risk of a cardiovascular disease at very early age. A high level of LDL cholesterol in the body increases the risk of clogged arteries⁽²⁾, which impacts the smoothness with which oxygen is carried through and from the heart to other parts of the body. Homozygous Familial Hypercholesterolemia results in abnormal levels of cholesterol right from the time of birth.⁽³⁾ Children with this condition generally develop heart diseases as early as the third or the fourth decade of their life. Unfortunately, Homozygous Familial Hypercholesterolemia does not have any cure and the patient needs to be on cholesterol lowering medications and dietary restrictions for the whole life.⁽⁴⁾ Understanding the presenting features of Homozygous Familial Hypercholesterolemia is the key in formulating the best treatment plan for the patient. This article gives an insight as to some of the presenting features of Homozygous Familial Hypercholesterolemia.

Abnormally High Levels of LDL Cholesterol: The primary presenting features of Homozygous Familial Hypercholesterolemia include abnormally high levels of LDL cholesterol in the blood.⁽⁵⁾ This can be easily observed when a blood test is done on routine examination. While the maximum limit of LDL cholesterol should ideally be less than or equal to 239 mg/dL, in this condition the cholesterol levels are in the 600 range, which is more than three times the maximal limit. Presence of Xanthomas: There is also presence of xanthomas, which are yellowish colored patches on the skin surface around the eyes, knees, buttocks and elbows.⁽⁵⁾ Some people also get circular patches around the cornea of the eyes. Cardiac Symptoms: Additionally, other common presenting features of Homozygous Familial Hypercholesterolemia include chest pain with shortness of breath and tachycardia. A collection of all these symptoms along with laboratory investigation showing abnormal LDL levels all points towards a diagnosis of Homozygous Familial Hypercholesterolemia.

In summary, Homozygous Familial Hypercholesterolemia is an inherited medical condition in which a child has abnormally high levels of LDL cholesterol right from the time of birth. This increases the likelihood of the child developing a cardiovascular disease by the time he or she is in the fourth decade of life. There is no cure for Homozygous Familial Hypercholesterolemia and treatment is aimed at controlling the cholesterol levels. A routine blood work can clearly show cholesterol levels that are way beyond the maximal limits. Additionally, people have xanthomas, which can be seen in the eyes, elbows, buttocks and feet.⁽⁵⁾ A child with Homozygous Familial Hypercholesterolemia needs constant support from family to cope up with the illness, as such children need continuous supervision and frequent visits to the physicians.

References: