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Taking Care by Lisa Petsche
Hemochromatosis Is Very Common,
But Quite Underdiagnosed
Lisa Petsche
Chances are good that you have never heard of hemochromatosis, also known as iron overload disease, despite that it’s the most common genetic disorder in the western world. Although it can affect males and females at any time in life, it typically manifests itself in middle age. The disease is potentially fatal, but the earlier it is diagnosed, the better one’s chances are of being able to lead a long and healthy life.
The cause of iron overload can be genetic or non-genetic. The genetic type, which is by far the more common variety, is known as hereditary hemochromatosis or HH for short.
According to the Centers for Disease Control and Prevention (CDC), “in the United States more than one million people have the gene mutation that can cause HH. This mutation is most common among people whose ancestors came from Europe.” Typically, those who have it are unaware.
A metabolic, multi-system disease, HH causes the body to absorb and retain too much dietary iron. Since there is no regular mechanism for eliminating iron from the body, the excess iron is stored in tissues and can cause damage in many areas, including joints, the heart, brain, liver, pancreas and endocrine glands. “The speed at which iron builds up and the severity of the symptoms vary from person to person,” says the CDC, and “many people do not have any early symptoms.” Typically, by the time they are diagnosed — if they are ever properly diagnosed — they have sustained irreversible damage.
Take the case of Lorraine, for example. After several years of increasing health issues — including fatigue, weakness, abdominal and joint pain and Parkinson-like symptoms — and visits to numerous medical specialists who were puzzled by her seemingly unrelated symptoms, she was extremely frustrated and discouraged that no underlying cause could be found. Meanwhile, her physical functioning became more and more compromised. It was a naturopath she eventually turned to for help who suggested iron testing, querying hemochromatosis. In 2006, at age 69, Lorraine was diagnosed with the disease.
Her iron levels were life-threateningly high but gradually returned to normal as a result of weekly phlebotomies (blood removal treatments from the arm, similar to blood donation) over the course of a year. She was told she was lucky that her internal organs had not been damaged. However, her joints have been severely affected, leading to the need for multiple joint replacements. The management plan includes regular blood testing to check her iron levels, and periodic phlebotomies as indicated.
Diagnosis of HH is difficult because symptoms are vague, often masking themselves as other, more common conditions, such as hypothyroidism, liver disease, arthritis, heart disease, diabetes or even chronic fatigue. Some people may develop a bronze skin tone; Lorraine wasn’t one of them.
In her journey through the healthcare system, Lorraine discovered that most healthcare professionals know little if anything about HH. (Up until recently, medical students were taught that the disorder is rare.) And the vast majority of lay people have never heard of it.
She had to do her own research, and eventually found valuable books, research articles and other materials through the Hemochromatosis Society (for information, call their toll-free line at 1-888-655-IRON (4766) or visit www.americanhs.org/).
Talk to your doctor, because two simple and inexpensive blood tests — transferrin saturation (TS) test and serum ferritin (SF) test — can detect iron overload and may save your life or that of someone you love. These tests are not part of the standard blood testing ordered with regular medical checkups. If someone in your family is diagnosed with HH, DNA testing is available to determine if other members may be at risk.
Author’s note: Lorraine is my mother, and we are on a mission to spread awareness about hemochromatosis.
*
Lisa M. Petsche is a social worker who has professional and personal experience with elder care. She is also a freelance writer specializing in boomer and senior issues.
The cause of iron overload can be genetic or non-genetic. The genetic type, which is by far the more common variety, is known as hereditary hemochromatosis or HH for short.
According to the Centers for Disease Control and Prevention (CDC), “in the United States more than one million people have the gene mutation that can cause HH. This mutation is most common among people whose ancestors came from Europe.” Typically, those who have it are unaware.
A metabolic, multi-system disease, HH causes the body to absorb and retain too much dietary iron. Since there is no regular mechanism for eliminating iron from the body, the excess iron is stored in tissues and can cause damage in many areas, including joints, the heart, brain, liver, pancreas and endocrine glands. “The speed at which iron builds up and the severity of the symptoms vary from person to person,” says the CDC, and “many people do not have any early symptoms.” Typically, by the time they are diagnosed — if they are ever properly diagnosed — they have sustained irreversible damage.
Take the case of Lorraine, for example. After several years of increasing health issues — including fatigue, weakness, abdominal and joint pain and Parkinson-like symptoms — and visits to numerous medical specialists who were puzzled by her seemingly unrelated symptoms, she was extremely frustrated and discouraged that no underlying cause could be found. Meanwhile, her physical functioning became more and more compromised. It was a naturopath she eventually turned to for help who suggested iron testing, querying hemochromatosis. In 2006, at age 69, Lorraine was diagnosed with the disease.
Her iron levels were life-threateningly high but gradually returned to normal as a result of weekly phlebotomies (blood removal treatments from the arm, similar to blood donation) over the course of a year. She was told she was lucky that her internal organs had not been damaged. However, her joints have been severely affected, leading to the need for multiple joint replacements. The management plan includes regular blood testing to check her iron levels, and periodic phlebotomies as indicated.
Diagnosis of HH is difficult because symptoms are vague, often masking themselves as other, more common conditions, such as hypothyroidism, liver disease, arthritis, heart disease, diabetes or even chronic fatigue. Some people may develop a bronze skin tone; Lorraine wasn’t one of them.
In her journey through the healthcare system, Lorraine discovered that most healthcare professionals know little if anything about HH. (Up until recently, medical students were taught that the disorder is rare.) And the vast majority of lay people have never heard of it.
She had to do her own research, and eventually found valuable books, research articles and other materials through the Hemochromatosis Society (for information, call their toll-free line at 1-888-655-IRON (4766) or visit www.americanhs.org/).
Talk to your doctor, because two simple and inexpensive blood tests — transferrin saturation (TS) test and serum ferritin (SF) test — can detect iron overload and may save your life or that of someone you love. These tests are not part of the standard blood testing ordered with regular medical checkups. If someone in your family is diagnosed with HH, DNA testing is available to determine if other members may be at risk.
Author’s note: Lorraine is my mother, and we are on a mission to spread awareness about hemochromatosis.
*
Lisa M. Petsche is a social worker who has professional and personal experience with elder care. She is also a freelance writer specializing in boomer and senior issues.