FM 4
Familial Hypercholesterolemia also known as FM, is a disease of extremely high cholesterol levels beginning early in gestation. It is passed along from family member to family member through a genetic mutation. Most commonly on chromosome 19. Many other chromosomes have now been identified as causing familial hypercholesterolemia such as (apo) B-100 (FDB, OMIM 144010). APOB gene (OMIM 107730), and FDB mutations such as Arg3527GlN. FM is an autosomal dominant trait.
Individual can inherit either 1 gene from 1 parent, (heterozygous) or two genes from both parents (homozygous). Those born with two defective genes tend to have a more severe form of FM. In the homozygous form of FM, symptoms and complications affect these individuals at a much earlier age, even as early as adolescence and younger.
Cholesterol is a fat substance found in the body's cells. It is also found in the foods we eat. In order to work correctly, the body needs a certain amount of cholesterol to make vitamin D, hormones and help with digestion. When an individual …show more content…
Elevated levels of LDL cholesterol even during therapy to lower your cholesterol levels. Xanthomas which are a yellow plaque build up of cholesterol under the skin or on the tendons of the hands, elbows, and Achilles tendons. Xanthelasmas, a yellow plaque build up of cholesterol deposits under the skin of the eyelids. Corneal arcus, which is cholesterol deposits around the cornea of the eye. If chest pain is present (angina), it can be a sign that heart disease is already present. Individuals with the more severe homozygous form of Fm will exhibit these signs very early on in age. Heart attack and death may occur before age
Familial Hypercholesterolemia also known as FM, is a disease of extremely high cholesterol levels beginning early in gestation. It is passed along from family member to family member through a genetic mutation. Most commonly on chromosome 19. Many other chromosomes have now been identified as causing familial hypercholesterolemia such as (apo) B-100 (FDB, OMIM 144010). APOB gene (OMIM 107730), and FDB mutations such as Arg3527GlN. FM is an autosomal dominant trait.
Individual can inherit either 1 gene from 1 parent, (heterozygous) or two genes from both parents (homozygous). Those born with two defective genes tend to have a more severe form of FM. In the homozygous form of FM, symptoms and complications affect these individuals at a much earlier age, even as early as adolescence and younger.
Cholesterol is a fat substance found in the body's cells. It is also found in the foods we eat. In order to work correctly, the body needs a certain amount of cholesterol to make vitamin D, hormones and help with digestion. When an individual …show more content…
Elevated levels of LDL cholesterol even during therapy to lower your cholesterol levels. Xanthomas which are a yellow plaque build up of cholesterol under the skin or on the tendons of the hands, elbows, and Achilles tendons. Xanthelasmas, a yellow plaque build up of cholesterol deposits under the skin of the eyelids. Corneal arcus, which is cholesterol deposits around the cornea of the eye. If chest pain is present (angina), it can be a sign that heart disease is already present. Individuals with the more severe homozygous form of Fm will exhibit these signs very early on in age. Heart attack and death may occur before age