Tangier Disease VS Familial Hypercholesterolemia
A form 6 student share a news with you. “I am shocked when I look at my blood test result. My blood total cholesterol is more than 300 mg/dL, the LDL cholesterol is be more than 220 mg/dL, but my Triglyceride levels tend to be normal, which are below 150 mg/dL. I am still young! I have a healthy lifestyle because I do not want to be like my mother who is having hypercholesterol. Am I having Tangier’s disease?”.
Explain him the condition and things he can do to help himself. Explain what is Tangier’s disease too.
Explain him the condition and things he can do to help himself. Explain what is Tangier’s disease too.
Familial Hypercholesterolemia
Cholesterol plays a vital part in how our body works, but if levels get too high, it increases our risk of heart disease. About one in 200 people has familial hypercholesterolaemia (FH), an inherited condition that means their cholesterol levels are higher than normal from birth because FH is a genetic condition, passed on to you by one of your parents. It’s caused by an abnormal gene and, despite it putting people at high risk of early heart disease, most of them don’t even know they have it.
|
Familial hypercholesterolemia is inherited in families in an autosomal dominant manner. In autosomal dominant inherited conditions, a parent who carries an altered gene that causes the condition has a 1 in 2 (50 percent) chance to pass on that altered gene to each of his or her children. The altered gene (gene mutation) that causes familial hypercholesterolemia is located on chromosome number 19. It contains the information for a protein called LDL receptor that is responsible to clear up LDL from the blood stream. The genes involved in FH tell the body to produce proteins that are involved in clearing LDL so if one of them is faulty, then your body won’t get the correct instructions. If someone carries a faulty gene – and therefore has FH – then there is a 50:50 chance that they will pass it on to each of their children
FH can be easily and effectively treated with a cholesterol-lowering statin. Usually, a high-intensity statin such as atorvastatin or rosuvastatin is needed to bring it down. Sometimes a different cholesterol-lowering drug called ezetimibe is given as well as a statin. Regular follow-up appointments are important, too. Lifestyle changes (see What can I do, above) can also reduce your risk of heart disease.
FH can be easily and effectively treated with a cholesterol-lowering statin. Usually, a high-intensity statin such as atorvastatin or rosuvastatin is needed to bring it down. Sometimes a different cholesterol-lowering drug called ezetimibe is given as well as a statin. Regular follow-up appointments are important, too. Lifestyle changes (see What can I do, above) can also reduce your risk of heart disease.
Tangier Disease
Tangier disease is an inherited disorder characterized by significantly reduced levels of high-density lipoprotein (HDL) in the blood. HDL transports cholesterol and certain fats called phospholipids from the body's tissues to the liver, where they are removed from the blood. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL, which transports them to the liver.
|
Mutations in the ABCA1 gene prevent the release of cholesterol and phospholipids from cells. As a result, these substances accumulate within cells, causing certain body tissues to enlarge and the tonsils to acquire a yellowish-orange color. The things that this boy can do whether his have FH or Tangier disease, it’s important that he eats a healthy balanced diet that is low in saturated fat and includes plenty of fresh fruit and vegetables. Keeping fit and active will also help to keep his heart healthy and it’s essential that he doesn’t smoke. Besides, healthy lifestyle alone will not be enough to reduce his cholesterol, so he will also need to take medication.
He does not has Tangier Disease
|
But he has Familial Hypercholesterolemia
|