Homozygous familial hypercholesterolemia
Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia (HFH) (pronunciation: ho-mo-zy-gous fa-mil-ial hy-per-cho-les-ter-ol-e-mia) is a rare genetic disorder characterized by exceptionally high levels of low-density lipoprotein cholesterol (LDL-C) in the blood.
Etymology
The term homozygous familial hypercholesterolemia is derived from the Greek words 'homos' meaning same, 'zygon' meaning yoke, 'familia' meaning family, 'hyper' meaning over, 'chole' meaning bile, 'stereos' meaning solid, and 'haima' meaning blood.
Definition
Homozygous familial hypercholesterolemia is a severe form of familial hypercholesterolemia (FH), a genetic disorder that is passed down through families and causes high levels of LDL-C, often referred to as "bad cholesterol". Individuals with HFH inherit two copies of the defective gene, one from each parent, which leads to extremely high cholesterol levels from birth.
Symptoms
The primary symptom of HFH is extremely high cholesterol levels, which can lead to early onset atherosclerosis, heart disease, and other cardiovascular complications. Other symptoms may include fatty skin deposits called xanthomas, and cholesterol deposits in the eye's cornea or eyelid known as xanthelasmas.
Diagnosis
Diagnosis of HFH is typically based on a physical examination, family history, and blood tests to measure cholesterol levels. Genetic testing can confirm the diagnosis.
Treatment
Treatment for HFH often involves a combination of lifestyle changes, medications such as statins, and in severe cases, procedures like LDL apheresis or liver transplantation.
Related Terms
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