Familial apolipoprotein C-II deficiency is a rare inherited disorder that affects the body's ability to metabolize fats. It is caused by a mutation in the APOC2 gene, which provides instructions for making a protein called apolipoprotein C-II. This protein is involved in the breakdown of triglycerides, a type of fat found in the blood. People with this disorder have abnormally high levels of triglycerides in their blood, which can lead to an increased risk of developing heart disease.

The most common symptoms of Familial apolipoprotein C-II deficiency include:

-High levels of triglycerides in the blood
-Low levels of HDL (good) cholesterol
-High levels of LDL (bad) cholesterol
-Elevated levels of lipoprotein (a)
-Fatty deposits in the skin and tendons
-Enlarged liver and/or spleen
-Abnormal bleeding
-Gallstones
-Pancreatitis
-Kidney disease
-Arthritis
-Depression
-Fatigue
-Weight gain

Familial apolipoprotein C-II deficiency is caused by mutations in the APOC2 gene. This gene provides instructions for making a protein called apolipoprotein C-II, which is involved in the metabolism of fats. Mutations in the APOC2 gene reduce or eliminate the production of apolipoprotein C-II, leading to the signs and symptoms of familial apolipoprotein C-II deficiency.

1. Dietary modifications: A diet low in saturated fat and cholesterol is recommended to reduce the risk of cardiovascular disease.

2. Medications: Statins, fibrates, and niacin may be prescribed to reduce cholesterol levels.

3. Lifestyle changes: Regular exercise and quitting smoking can help reduce the risk of cardiovascular disease.

4. Genetic counseling: Genetic counseling can help individuals and families understand the risks and implications of the condition.

5. Plasma exchange: This procedure may be used to reduce the levels of apolipoprotein C-II in the blood.

1. Family history of Familial apolipoprotein C-II deficiency
2. Genetic mutations in the APOC2 gene
3. Age (most commonly seen in adults)
4. Gender (more common in males)
5. Ethnicity (more common in people of European descent)
6. Obesity
7. High cholesterol levels
8. High triglyceride levels
9. Diabetes
10. Hypertension

Yes, there is a medication available to treat Familial Apolipoprotein C-II Deficiency. The medication is called Mipomersen, and it is a synthetic antisense oligonucleotide that works by blocking the production of ApoC-II, which is the protein that is deficient in this condition. Mipomersen has been approved by the FDA for the treatment of Familial Apolipoprotein C-II Deficiency in adults and children.