Homozygous familial hypercholesterolemia (FH) is an inherited disorder that causes extremely high levels of cholesterol in the blood. People with this condition have two copies of a mutated gene that affects the way the body processes cholesterol. This leads to a buildup of cholesterol in the blood, which can cause serious health problems, such as heart disease.

The symptoms of homozygous familial hypercholesterolemia (FH) include:

-High levels of LDL cholesterol (“bad” cholesterol)
-Early onset of heart disease, including heart attack and stroke
-Xanthomas (cholesterol deposits in the skin)
-Arcus corneae (white or gray ring around the cornea of the eye)
-Tendon xanthomas (cholesterol deposits in the tendons)
-Liver dysfunction
-Abnormal blood clotting
-High levels of triglycerides (a type of fat in the blood)
-Abnormal cholesterol levels in the blood

Homozygous familial hypercholesterolemia (FH) is an inherited disorder caused by a mutation in the gene that codes for the low-density lipoprotein (LDL) receptor. This mutation results in a deficiency of the LDL receptor, which is responsible for removing LDL cholesterol from the bloodstream. As a result, LDL cholesterol levels become abnormally high, leading to an increased risk of heart disease.

1. Dietary changes: Eating a diet low in saturated fat and cholesterol can help reduce cholesterol levels.

2. Medications: Statins, bile acid sequestrants, cholesterol absorption inhibitors, and PCSK9 inhibitors are all medications that can be used to lower cholesterol levels.

3. Lifestyle changes: Regular exercise, quitting smoking, and reducing stress can all help reduce cholesterol levels.

4. Surgery: In some cases, surgery may be recommended to remove the blockage in the arteries caused by high cholesterol levels.

5. Apheresis: This is a procedure in which the blood is removed from the body, filtered to remove cholesterol, and then returned to the body.

1. Family history of the disorder
2. Having a parent with the disorder
3. Having a sibling with the disorder
4. Being of Ashkenazi Jewish descent
5. Having a mutation in the LDL receptor gene
6. Having a mutation in the APOB gene
7. Having a mutation in the PCSK9 gene
8. Having a mutation in the STAP1 gene
9. Having a mutation in the LDLRAP1 gene
10. Having a mutation in the APOE gene

Yes, there are medications and treatments available for homozygous familial hypercholesterolemia. These include cholesterol-lowering medications such as statins, bile acid sequestrants, and PCSK9 inhibitors. Other treatments include lifestyle changes such as diet and exercise, as well as apheresis, a procedure that removes cholesterol from the blood.