Heterozygous Familial Hypercholesterolemia

Heterozygous Familial Hypercholesterolemia General Information

Heterozygous Familial Hypercholesterolemia is a very rare genetic disorder that is more commonly abbreviated as HeFH. This medical condition can be characterized by increased low levels of lipoproteins density in the blood, also known as LDL or bad cholesterol and by an early cardiovascular disease that runs in the respective family. The majority of patients suffering from Heterozygous Familial Hypercholesterolemia have several mutations in the apolipoproteina B (part of the LDL that connects with the receptor), or in the protein called LDL receptor (that has a very important role in removing LDL from the circulation). We must be precise that mutations in other genes only rarely appear. The patients who are normally called heterozygous have one unusual copy of the LDL receptor gene. Because of this fact, this medical condition is called a monogenic disorder. This type of patients may suffer from premature atherosclerosis that will finally cause various cardiovascular diseases at a very early age, such as 25 to 35 years old. Heterozygous Familial Hypercholesterolemia develops in one from five hundred people from all around the world but the prevalence is higher in some subpopulations, from example people of Dutch South Afrikaner extraction, Christian Lebanese and Quebecois. The persons who deal with this genetic illness will have the eyelids, the corneas and the extensor tendons seriously affected. A vascular disease that is very common among these patients is the CAD or coronary artery disease. Genetically, this medical disorder is heterogeneous and is caused by mutations of the LDLR gene.

Heterozygous Familial Hypercholesterolemia Symptoms

If the levels of cholesterol are high, they do not usually cause any signs and symptoms. Often, the deposits of cholesterol in Heterozygous Familial Hypercholesterolemia are visible from the outside and in various places of the body, for example in tendons of knees, hands, elbows and feet (causing notable as lumps that are very common in the Achilles tendon) or in and around the eyes (causing a whitish discoloration of the iris and xanthelasma palpabrum described as yellowish patches that appear above the eyelids). If the deposits are in the walls of arteries then the patient will suffer from atherosclerosis, an important risk factor that will also lead to the appearance of other more severe cardiovascular diseases. The family medical history of cardiovascular diseases, tobacco smoking, the high pressure of the blood (hypertension) and diabetes mellitus are important risk factors for atherosclerosis. In Heterozygous Familial Hypercholesterolemia, the cholesterol depositions may form in the arteries that supply the heart (coronary arteries) leading to several medical conditions, such as: heart attack (myocardial infarction) or angina pectoris (a tightness of the chest on exertion). The arteries that usually supply the brain can also be affected by the excessive deposits of cholesterol causing inability to talk, brief episodes of weakness on one side of the patient’s body (more commonly known as transient ischemic attack) and stroke. If the arteries supplying the legs are affected, the individual will complain of pain in the feet on exertion and resolving in rest or other PAOD (peripheral artery occlusive diseases).

Heterozygous Familial Hypercholesterolemia Treatment

Heterozygous Familial Hypercholesterolemia is a rare genetic medical condition that can be successfully treated if it is diagnosed in time. If you know you are at high risk of developing this medical disorder and you start experiencing signs and symptoms of a vascular disease or any other specific clinical manifestation of this serious genetic illness and a member from your family has already found out that he or she is suffering from Heterozygous Familial Hypercholesterolemia, then we strongly advise you to call immediately your health care provider and establish a date for the medical examination. When seeing your health care provider, your cholesterol levels will be first determined and then a physical examination will follow. Some external physical signs that may help your doctor put the exact diagnose are: arcus, xanthoma or xanthelasma. The testing of the patient must be carefully done because there are some other more medical conditions that may lead to increased cholesterol values, for example metabolic syndrome or combined hyperlipidemia. If the exact diagnose of Heterozygous Familial Hypercholesterolemia is made, the health care provider can proceed with the treatment option that best fits with the patient’s interests, demands and needs. After all the procedures are done, any treatment is approximately straightforward. Some studies showed that if a young adult has extremely elevated concentrations of TC in the plasma, then follow-up or specific therapies are not always recommended. The pharmacotherapy is always preferred by many health care providers when they deal with a patient suffering from this type of medical condition because the changing of the lifestyle and diet can not target plasma LDL-C. The current guidelines for a treatment include target the levels of LDL-C under the value 3 mol/L. This genetic disorder known as Heterozygous Familial Hypercholesterolemia is treated very effectively with the help of a category of drugs called statins. Statins are also known in the medical area as 3-hydroxy-3-methylglutaryl–coenzyme reductase inhibitors. These drugs are very useful due to the fact that they inhibit the ability of the body to produce cholesterol. This is done by blocking an enzyme called HMG-CoA-reductase and stimulating the production of the receptors found in the liver known as LDL receptors. This is the mechanism of action that will have the result of reducing the levels of cholesterol in the cells. Because these medicines proved to give the best effective results, statins have become the treatment option of first choice. When dealing with this medical disorder, the highest doses are often administrated. The diet is also considered an important factor in any type of treatment against Heterozygous Familial Hypercholesterolemia. The dietary protocol lowers the intake of cholesterol and helps replacing the saturated fats with other type of fats that are not saturated. The levels of LDL-C from the plasma can be also reduced by consuming plant sterols. This is also a method of preventing this genetic disorder from occurring, along with an appropriate control of hypertension or diabetes, smoking cessation, weight control and moderate exercise.