Finally feeling well enough to write a column, and just in time for
St. Patricks Day I want to write about a long time acquaintance of
mine, the most common genetic disorder in the world, known as
Hemochromatosis, aka the "Celtic Curse".
One out of ten people carry a single gene for this disorder, but for people who are descended from Northern Europe and Ireland (where this disorder is believed to have originated) the incidence is even greater, hence the name The Celtic Curse.
Hemochromatosis is a disorder of iron metabolism where the liver fails to produce an enzyme that would normally inhibit the amount of iron absorbed by the individual. Persons with a double hemochromatosis gene run an especially high risk for multiple organ injury, cancer and death, but even carriers of a single gene need treatment to avoid or forestall diseases that we usually associate with aging, like diabetes, heart disease, unusually high family histories of cancer and arthritis (especially in the small joints of the hand). As it is the bodys job to store iron to make red blood cells, the body will seek to store it anywhere it can. Therefore any vital organ of the body is at risk for damage, organ failure and cancer. Because the liver is the main storage vehicle for iron, cirrhosis of the liver and liver cancer are especially increased risks. For many people abnormal liver function may be the first symptom to show up often leaving doctors confused as to the cause. Such individuals should request that an iron panel be done. However at this point damage has likely already occurred. Also it is important to know that a normal iron panel does not rule out whether or not you have the hemochromatosis gene as iron levels may originally be normal and then accumulate over a lifetime. Abnormal iron panels may also be present from inflammation and excess consumption of alcohol. Since ferritin levels are sometimes used to detect alcholism, some teetotalers have been mistakenly identified as excessive drinkers. Only genetic testing can totally rule out this disorder. Such tests are now readily available with or without a doctors consent. Still this is a familial disease, so a big tip that it may run in your family is when you have a family history of such diseases, especially in the men in your family. The reason for this is that the body has no way of removing excess iron. But in women, monthly cycles and child birth result in lower iron stores. Even so, anemia may be present and is not uncommon in even severe cases of this disorder. As the iron slowly builds up cases are usually diagnosed as people age. But it can still be diagnosed at any age. Babies can be born with it when the mother has an abnormally high level of iron in her system resulting in abnormal liver function at birth. There have been cases where individuals suffered through repeated organ transplants without diagnosis and death in young adults. It may also be implicated in rare cancers such as pancreatic and liver cancers. Very late stage disease causes such a large increase in iron stores that the skin darkens over the entire body. Other symptoms include endocrine disorders, kidney disorders, gall bladder issues, impotence and more.
Hopefully someone reading this will get tested and diagnosed. Please forward this information to anyone you know with long standing suffering and an undiagnosable condition. Be well, be smart, get tested if in any way you suspect this may be in your family. Thanks for reading!
Todays Lesson: Healing is a matter of time, but it is sometimes also a matter of opportunity. Hippocrates
copyright Linda Matthews 3/13/2014
One out of ten people carry a single gene for this disorder, but for people who are descended from Northern Europe and Ireland (where this disorder is believed to have originated) the incidence is even greater, hence the name The Celtic Curse.
Hemochromatosis is a disorder of iron metabolism where the liver fails to produce an enzyme that would normally inhibit the amount of iron absorbed by the individual. Persons with a double hemochromatosis gene run an especially high risk for multiple organ injury, cancer and death, but even carriers of a single gene need treatment to avoid or forestall diseases that we usually associate with aging, like diabetes, heart disease, unusually high family histories of cancer and arthritis (especially in the small joints of the hand). As it is the bodys job to store iron to make red blood cells, the body will seek to store it anywhere it can. Therefore any vital organ of the body is at risk for damage, organ failure and cancer. Because the liver is the main storage vehicle for iron, cirrhosis of the liver and liver cancer are especially increased risks. For many people abnormal liver function may be the first symptom to show up often leaving doctors confused as to the cause. Such individuals should request that an iron panel be done. However at this point damage has likely already occurred. Also it is important to know that a normal iron panel does not rule out whether or not you have the hemochromatosis gene as iron levels may originally be normal and then accumulate over a lifetime. Abnormal iron panels may also be present from inflammation and excess consumption of alcohol. Since ferritin levels are sometimes used to detect alcholism, some teetotalers have been mistakenly identified as excessive drinkers. Only genetic testing can totally rule out this disorder. Such tests are now readily available with or without a doctors consent. Still this is a familial disease, so a big tip that it may run in your family is when you have a family history of such diseases, especially in the men in your family. The reason for this is that the body has no way of removing excess iron. But in women, monthly cycles and child birth result in lower iron stores. Even so, anemia may be present and is not uncommon in even severe cases of this disorder. As the iron slowly builds up cases are usually diagnosed as people age. But it can still be diagnosed at any age. Babies can be born with it when the mother has an abnormally high level of iron in her system resulting in abnormal liver function at birth. There have been cases where individuals suffered through repeated organ transplants without diagnosis and death in young adults. It may also be implicated in rare cancers such as pancreatic and liver cancers. Very late stage disease causes such a large increase in iron stores that the skin darkens over the entire body. Other symptoms include endocrine disorders, kidney disorders, gall bladder issues, impotence and more.
Hopefully someone reading this will get tested and diagnosed. Please forward this information to anyone you know with long standing suffering and an undiagnosable condition. Be well, be smart, get tested if in any way you suspect this may be in your family. Thanks for reading!
Todays Lesson: Healing is a matter of time, but it is sometimes also a matter of opportunity. Hippocrates
copyright Linda Matthews 3/13/2014
