Homozygous Familial Hypercholesterolemia

Homozygous Familial Hypercholesterolemia – General Information

Homozygous Familial Hypercholesterolemia (which is abbreviated HFH and also known as Type II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutation) is a rare inherited genetic disorder which leads to high low-density lipoprotein levels (abbreviated LDL and known as “bad cholesterol”) in the blood and also to cardiovascular disease at early ages (such as heart attacks). The majority of the patients who are suffering from Homozygous Familial Hypercholesterolemia usually have mutations in the LDL receptor proteins. These LDL receptor proteins have the role to remove the low-density protein from the blood circulation or to remove only a part from the LDL which is called apolipoprotein B (this protein is the part of the LDL which binds with the receptor). The patients who are heterozygous (meaning that they have a single mutant copy of the LDL gene) may develop premature atherosclerosis which leads to cardiovascular problems at middle age.

The mutation which leads to the appearance and development of the Homozygous Familial Hypercholesterolemia appears on the chromosome 19. The person who has this medical condition can inherit a mutant gene from one parent and another mutant gene from the other parent making the patient homozygous. In these individuals the condition is much more severe as the cholesterol levels may exceed 600 mg/dL and they may develop waxy plaques under the skin which covers the elbows. In these individuals atherosclerosis develops before puberty and also the heart attack and death may appear before the age of 30.  If they pass over the age of 30, they may need invasive surgeries such as a liver transplant.

Homozygous Familial Hypercholesterolemia – Symptoms

It is well known the fact that any medical disorder (including Homozygous Familial Hypercholesterolemia) can trigger a variety of symptoms. Therefore, some of this medical condition's most uncommon symptoms have not been listed (mentioned) here. This is why we strongly recommend you to contact your personal health care provider whenever you develop any unusual, bothersome or unpleasant symptoms. Your personal physician will be able to tell you if you are suffering from Homozygous Familial Hypercholesterolemia or from any other medical disorder. Here is a list of the most common symptoms that a person who suffers from Homozygous Familial Hypercholesterolemia, may experience: cholesterol deposits in the eye lids (also known as xanthelasmas), chest pain which is usually associated with coronary artery disease, clear evidence of obesity, lesions caused by the cholesterol rich lipoprotein deposits (which are also known as xanthomas), high resistance to the LDL therapy. The laboratory testing can reveal elevated triglycerides, total plasma cholesterol which is higher than 300 mg/dL, the LDL serum is usually higher than 200, the heart tests are abnormal. If the cholesterol is deposited in the coronary arteries (these are the arteries which supply the heart) this may lead to the appearance of the angina pectoris, myocardial infarction (also known as heart attack). If the cholesterol is deposited in the arteries which supply the brain, this may lead to transient ischemic attack (this means that the patient may be unable to talk, or he may feel weakness on one side of the body) or it may also lead to stroke.

Homozygous Familial Hypercholesterolemia – Treatment

The Homozygous Familial Hypercholesterolemia disease may be diagnosis by checking the cholesterol levels which can be revealed at routine health screening. The doctor will also search for the physical signs such as xanthelasma, xanthoma, and so on. The doctor will ask the patient to do a low-density lipoprotein test and also a triglycerides test in order to establish the correct diagnostic. The heterozygous patients usually can be treated effectively with statins (the statins are drugs which inhibit the organism’s capacity to produce cholesterol. They inhibit this capacity of the organism by blocking the enzyme called hydroxymethyglutaryl CoA reductase).  In most of the cases the patients need to be treated with the maximum dose of statins. These drugs also stimulate the production of low-density lipoprotein receptors found in the liver, which will help to reduce the levels of the cholesterol found in the cells. In the patients who are homozygote and have no LDL-R production, the treatment in based on a drug from the fibrate or bile acid sequestrant and niacin drug which control the levels of cholesterol. The combination of fibrates with statins may lead to myopathy and rhabdomyolysis (this is the breakdown of the muscle tissue which usually leads to renal failure) this is why the patients who are under this type of treatment are usually very closely monitored.

The patients who are homozygous are also treated with statin drugs if they have at least one functional copy of the low-density lipoprotein receptor. In these patients doctor usually use high doses of fibrates or bile-acid sequestrant drugs, but also high doses of statins in the conditions listed above. Doctors also use in the patients who are suffering from Homozygous Familial Hypercholesterolemia LDL aphaeresis (which clears LDL by blood filtration, it is a process similar to dialysis). As a last resort doctors may recommend a liver transplant which can effectively cure the Homozygous Familial Hypercholesterolemia. The principal goal of the treatment of Homozygous Familial Hypercholesterolemia is to reduce the risk of the appearance of atherosclerotic heart diseases and heart attacks. The patients must change their diet for at least three to five months before they begin the drug treatment. The diet changes means that the patients must exclude fats completely from their diet and this can be done by reducing the intake of pork, beef and lamb and also by excluding coconut and palm oil from their diet. Patients are also recommended not to eat eggs, organ meats, and low-fat dairy produces. The doctors may also recommend the patients to see a dietary specialist for further information and counseling and to do physical exercises in order to lower the levels of cholesterol and to lose weight. The drug therapy is usually recommended if the dietary changes, exercises and weigh loss have not been achieved after the five months. Here are some of the drugs which are usually recommended by the doctors to the patients who are suffering from Homozygous Familial Hypercholesterolemia: nicotinic acid, Lovastatin, Gemfibrozil and Probucol.