Cholesterol is a type of body fat which is made by the body and can also be found in food. It is needed for the body but too much of it can lead to diseases. Familial hypercholesterolemia is a disorder caused by the body’s inability to breakdown cholesterol leading to very high levels of cholesterol in the body. The worldwide prevalence of FH is estimated to be about 1 in 500 people for the public but for certain ethnic groups such as the Christian Lebanese it is 1 in 100 people. This disease is passed down from an affected parent to the offspring. Early diagnosis of FH is important because it reduces the risk of cardiovascular diseases. Commutated tomography may be required to see if the patient needs more treatment or the condition is not life threatening. (5,6)FH was first discovered in a family from Oman.
Tests done on the family showed that a young girl in the family had very high cholesterol levels. Further studies were done, and a conclusion was reached that this was a result of a mutation on chromosome 19. (2,7) Many risks of FH have on an individual’s health include cardiovascular issues, coronary artery disease and stroke at younger ages.
The median cost for an Australian patient with cardiovascular disease/issues is $9,982 for males and $8,634 for females. (3,8) Also this may seem like a significant amount, worldwide the total cost for cardiovascular induced diseases cost more than 400 billion dollars. (8)The aim of this article is to provide information on FH because many people are not familiar with this disease. This article will give more information on the symptoms, causes, diagnosis and recommendations.
More knowledge to the public will raise awareness about how serious the condition is and help reduce the effects of this disease. This might also lead to continued research on FH which aim to improve the quality of life for those affected. It is very important for the public and overseas community to be aware of Familial Hypercholesterolemia leads to other diseases such as cardiovascular diseases, coronary artery diseases and stroke at young ages. (8)Genetic PrinciplesA gene is a unit of heredity which carries information from parent to child and is made up of DNA.FH is an autosomal dominant disease meaning that it is always passed from an infected parent. Inborn errors are rare genetic diseases that results from enzyme deficiency that help break down the food. FH is passed down through families and usually passed from a parent to the offspring.
It is due to a fault or mutation in the LDL receptor. Familial hypercholesterolemia is caused by an inherited genetic mutation on chromosome 19. This genetic disorder makes the body unable to effectively remove low density lipoproteins (LDL), otherwise known as bad cholesterol.
While cholesterol serves important functions in the body, it is important that the level of LDL stays relatively low in the blood. High LDL leads to build-up in the arteries and blockages that can cause serious cardiovascular problems including heart attacks and strokesClinical symptoms and prognosisPotential signs of FH are having LDL cholesterol above 190 mg/dL in adults and above 160 mg/dL in children. At birth they might not be any noticeable symptoms as there isn’t much cholesterol build up in the body at this stage. The symptoms include cholesterol deposits in the eyelids and over parts of the hands, elbows, knees and around the cornea of the eye.
Chest pains and cramping of calves when walking as well are symptoms that can be experienced by teenagers and adults. If there is history of FH in your family, you need to get checked even if you are not showing any symptoms of FH. Bile acid binding resins also reduce the LDL cholesterol by up to 20% at tolerable doses. Long term symptoms for people with FH could be xanthelasmas (yellowish fat deposits underneath the skin causing lump like structures) and/or xanthoma (a patchy yellow blotch on the surface of the skin this is generally caused by deposition of lipids. (12,14) There might also be appearances of tendon xanthomata in other people. These are swellings made from cholesterol on your knuckles, knees or your Achilles tendon at the back of your ankle. Treatment and nutrition/dietary managementThere isn’t a cure for FH yet, but it can be treated by diet altercation and use of certain medication. A combination of both will help reduce cholesterol successfully and delay the onset of heart disease, heart attack, and other complications.
There is not much of a difference in the way FH is treated in adults and in children. Change in diet by mainly cutting out saturated fats. This can be achieved by consuming low fat dairy products instead of full dairy products with low fat and removing trans fats from the diet. Cholesterol can be reduced by not consuming egg yolks and animal organs e.g. liver.
Statin drugs may be recommended if the changes in diet do not lower the cholesterol level. Further treatments are being studied because there has been lack of tolerability in some people and failure to reach goal LDL cholesterol concentrations using the current treatments. Besides change of diet and statin drugs there are also cholesterol absorption inhibitors which work in the intestine wall to reduce absorption. Exercise is encouraged if you have FH as some studies have concluded that exercising helps break down fats including cholesterol