What is familial hypercholesterolemia and how is it inherited?
Familial hypercholesterolemia is an inherited condition that causes high levels of LDL (low density lipoprotein) cholesterol beginning at birth, and heart attacks at an early age. Cholesterol is a fat-like substance that is found in the cells of the body. Cholesterol is also found in some foods.
What are the causes of familial hypercholesterolemia?
Familial hypercholesterolemia is caused by a gene alteration that’s passed down from one or both parents. People who have this condition are born with it. This change prevents the body from ridding itself of the type of cholesterol that can build up in the arteries and cause heart disease.
What is familial hypercholesterolemia NCBI?
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism resulting in elevated serum low-density lipoprotein (LDL) cholesterol levels leading to increased risk for premature cardiovascular diseases (CVDs).
What is a familial disease?
A familial disease is hereditary, passed on from one generation to the next. It resides in a genetic mutation that is transmitted by mother or father (or both) through the gametes to their offspring. Not all genetic disorders are familial, however, because the mutation may arise… In human genetic disease.
What level is familial hypercholesterolemia?
A healthy LDL level is less than 100 mg/dL (milligrams per deciliter), but people with familial hypercholesterolemia can have an LDL of 160mg/dL to 400 mg/dL or higher. Without treatment, people who have this disorder are at a higher risk of getting coronary artery disease early.
Who discovered familial hypercholesterolemia?
The Norwegian physician Dr Carl Müller first associated the physical signs, high cholesterol levels and autosomal dominant inheritance in 1938. In the early 1970s and 1980s, the genetic cause for FH was described by Dr Joseph L. Goldstein and Dr Michael S. Brown of Dallas, Texas.
What is the genotype of familial hypercholesterolemia?
The proband’s genotype was confirmed to be compound heterozygous FH, leading to clinical manifestations in line with the homozygous FH phenotype. The phenotype is highly associated with the genotype in this type of compound heterozygous FH.
What is familial and hereditary?
‘Hereditary’ is most commonly used when referring to diseases with a known genetic cause. ‘Familial’ disorders are those which appear to have a genetic component, affecting more family members than would be expected by chance alone.
What is familial hypercholesterolemia treatment?
Familial hypercholesterolemia treatment focuses on reducing the extremely high levels of LDL (bad) cholesterol. This helps lower the risk of heart attack and death.
How is familial hypercholesterolemia diagnosed?
FH is commonly diagnosed based on clinical criteria; however, there is genetic testing available. The genetic test should identify mutations in the low-density lipoprotein reception (LDLR) gene, the apolipoprotein B (apoB), or the proprotein convertase subtilisin/kexin (PCSK9) genes.
What is another name for familial hypercholesterolemia?
| Familial hypercholesterolemia | |
|---|---|
| Other names | Familial hypercholesterolaemia |
| Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with FH. | |
| Specialty | Endocrinology |
What chromosome is familial hypercholesterolemia on?
How does FH affect families? Familial hypercholesterolemia is a defect on chromosome 19. It is inherited as an autosomal dominant trait, which means that you only need to get the abnormal gene from one parent to inherit familial hypercholesterolemia.
What is familial disease?
What is meant by familial factors?
an element or condition in a family that accounts for a certain disease, disorder, or trait. A familial factor may or may not be inherited.
What is an example of familial disease?
Sickle cell disease is a hereditary disease caused by mutations in one of the genes that encode the hemoglobin protein. Red blood cells with the abnormal hemoglobin protein take on a sickle shape. The disease leads to chronic anemia and significant damage to the heart, lungs and kidneys.
What are familial risk factors?
Family Risk Factors
- Families that have household members in jail or prison.
- Families that are isolated from and not connected to other people (extended family, friends, neighbors)
- Families experiencing other types of violence, including relationship violence.
- Families with high conflict and negative communication styles.
How is familial hypercholesterolemia treated or cured?
– Lose extra pounds. Losing weight can help lower cholesterol. – Eat a heart-healthy diet. Focus on plant-based foods, including fruits, vegetables and whole grains. – Exercise regularly. With your doctor’s OK, work up to at least 30 minutes of moderate-intensity exercise five times a week. – Don’t smoke. If you smoke, find a way to quit.
What to do when high cholesterol runs in your family?
– Red meat – Whole milk and other full-fat dairy products – Butter – Shellfish – Eggs
What does Familial+hypertriglyceridemia stand for?
Familial hypertriglyceridemia (FHT) is an inherited condition featuring moderate-to-severe elevations of serum TGs with normal serum cholesterol levels. Familial hyperchylomicronemia (FHC) is characterized by extremely high serum TG and chylomicron levels.
What to know about familial hypercholesterolemia (FH)?
• Familial Hypercholesterolemia (FH) is an inherited disease, in which a genetic alteration causing high blood cholesterol is transmitted from generation to generation • Familial means it runs in families; sometimes it is possible to trace the disease over several generations • Hypercholesterolemia means high blood cholesterol