Hyperhomocysteinemia is a word that most people would rather not have to learn how to say or spell. Until recently these nine syllables (hy-per-ho-mo-cys-tei-ne-mi-a) had not been in the media spotlight. This word is even often left out of medical dictionaries. Even so it may well be that we should learn how to pronounce this word. It will likely be used more often in the next few years.
Hyperhomocysteinemia is already a hot topic among experts in the field and it could be important for your health and welfare to understand what this term describes.
In order to understand what this term means, it is a good idea to break it up into parts. It ends with “emia,” which is derived from the Greek “haima,” meaning blood. So it has something to do with blood. The next to last part of the word is “cysteine.” Cysteine is an essential amino acid, meaning that it is a building block of protein essential for the body’s normal function. Unfortunatly the syllable before cysteine is “homo,” meaning that this word does not pertain to cysteine, but a related substance with structural alterations, giving it different properties.
Homocysteine is not an essential nutrient, it is actually poisonous! The organism’s normal reaction to this substance is to get rid of it as fast as possible by breaking it down into cystathionine, which is completely harmless. This requires the enzyme cystathionine synthase. If there isn’t enough of this enzyme, homocysteine builds up in the body, and therefore in the blood. This brings us to the first part of the word, “hyper,” short for hyperactive. When put together, hyperhomocysteinemia means “too much homocystein in the blood.” The common abbreviation for hyperhomocysteinemia is HHcy, so this will be used for the remainder of this article. This condition is also called homocystinuria because when there is too much of this poison in the blood, it also enters the urine.
Severe HHcy is a genetically determined, meaning it can be inherited, enzyme deficiency syndrome. People with this disease have a gene defect which robs them of the necessary enzyme cystathionine synthase or makes it so they do not produce enough of this enzyme. This enzyme breaks homocysteine down into methionine, another relative of cysteine.
Methionine is found in all foodstuffs. If cystathionine synthase is lacking, this amino acid is only partially broken down, and the poisonous substance homosystiene is formed.
This poison attacks the central nervous system, the circulatory system, the bones, the eyes, and other organs. It causes “mental” symptoms such as psychosis and autism as well as arteriosclerosis, osteoporosis, birth defects, and poor eyesight. Severe cases of HHcy can lead to mental retardation and early death.
Severe cases of HHcy are conspicuous and easy to diagnose, including: birth defects, abnormal development, and mental retardation. Meanwhile, symptoms caused by HHcy can be insidious and arise throughout life in differing degrees of severity. These cases are harder to diagnose.
Research has also shown a much nuanced biochemical picture. There are actually 4 different forms of HHcy; some of which are so severe that they cause complete lack of the enzyme cystathionine synthase and death to follow, some which cause so low levels of the enzyme that lifespan is shortened, and some which cause symptoms later in life with differing degrees of severity.
Somewhere in this picture are those with an almost normal production of this enzyme. In these people enzyme production is high enough that they do not have obvious symptoms and seem normal and healthy but low enough that they still have an increased risk of health problems such as arteriosclerosis, autism, psychosis, and osteoporosis. These people have a mild, and almost always undiagnosed, form of HHcy!
This raises the question, “How many of us suffer from this kind of mild HHcy?”
So far, studies have indicated that the answer is that many of us suffer from undiagnosed HHcy, so many in fact that HHcy could well be the primary cause many of our time’s most deadly diseases, arteriosclerosis. It may also be a primary causative factor in a long list of other health problems including autism and osteoporosis.
The good news is that most cases of HHcy can be helped by B vitamins. The most important in this regard is vitamin B6, pyridoxine, but folic acid, vitamin B12 (cobalamine), and other nutrients also play an important role. The sensitive enzyme mechanism and its activity level are stimulated by these factors, which in turn reduces the amount of homocysteine build up in the tissues.
This is, as mentioned, good news because this information gives us the ability to treat HHcy as a normal deficiency state much like rickets, beriberi, and pellagra, and thereby cure the problems it causes. It also makes it possible to recognise many more hidden HHcy cases, and to use this recognition to prevent some of our time’s most severe and deadly diseases.
But before we go further, it a good idea to ask ourselves, “How new is this news anyway?” As early as 1948, reports from Rinehart and Greenberg wrote about the connection between arteriosclerosis and pyridoxine (vitamin B6) deficiency. Since that time numerous studies have further shown pyridoxine’s role in arteriosclerosis prevention. Pyridoxine deficiency leads to homocysteine build up, leading to endothelium (vessel wall) damage and thereby arteriosclerosis.
More that half a century has gone by since then! Has someone been sleeping on the job? Cholesterol has been named the great sinner in the development of arteriosclerosis and research on homocysteine and its role have been kept in the dark.
This cholesterol circus has been extremely profitable for the biggest industrial and pharmaceutical companies.
Many people have pointed out problems with the cholesterol theory and this theory has been severely undermined.
A Danish doctor, Uffe Ravnskov, has undertaken an exacting critical analysis of the foundations of the cholesterol theory by looking at the studies on which it is built. He did not find them to be viable. His book on this issue has been published in Swedish and English. He is not alone in his claims; many studies of peoples with clearly defined diets have contradicted the cholesterol theory.
There have also been many cases of arteriosclerosis caused death where the “reason” behind it, cholesterol, could not be found anywhere in the body! On the other hand, high levels of homocysteine could be found.
So there are many reasons to learn these nine syllables and their abbreviation HHcy. Maybe, with help from the media, this abbreviation will one day be as well known as HIV and AIDS.
Word list:
Arteriosclerosis: the formation of plaque on the inner wall of arteries
Nutrient: a substance needed by the body which it cannot produce itself
Osteoporosis: a bone disease where bone density is reduced.
