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Misdiagnosis of Chronic Fatigue Syndrome and Fibromyalgia

This letter below was written in 1999, nevertheless, it is still very relevant considering the number of people who have haemochromatosis who are being misdiagnosed for conditions such as chronic fatigue syndrome and fibromyalgia and therefore mistreated:

"This letter will be of great concern to everyone who is diagnosed with CFIDS or Fibromyalgia (like me!). Please send this article to anyone concerned or publish it in your newsletters, newspapers, etc. My name is Philip de Sterke and I work for the Dutch Liver patients Organization.  

A (possible) underestimated cause of chronic fatigue: Haemochromatosis
Dr. Philip H.L. de Sterke.
Haemochromatosis (iron overload) is the most common genetic disorder. Approximately 1 in 200 to 300 humans have this disorder (1-5). Most doctors still think it is a rare disorder (1). About 10% of the population carries the gene that causes iron overload. When someone inherits this gene from both parents, he or she may(6) absorb to much iron from their normal diet. This iron will be stored in the liver and several other tissues in the body and can cause a great number of symptoms. These symptoms, as a cause of Haemochromatosis, can be found in babies and small children, but it is most common above the age of 40. Unfortunately, when symptoms are found at this age, it is considered a "late diagnosis" and the damage has been done. Early screening and diagnosis could help patients completely avoid organ damage and premature death.
One or more of the following complaints can point to Haemochromatosis. * Chronic fatigue * Increased susceptibility for infections * Liver function abnormalities * Arthritis (pain, swelling and morning stiffness of certain joints, often the hands) * Diabetes * Loss of libido (less desire in sex) and impotence * Infertility * Swollen stomach (or uncomfortable, heavy feeling, mostly on the right side of the belly) * Heart complaints * Shortness of breath with physical effort * Skin pigmentation (bronze or grey coloured skin) * Loss of weight * Decrease in body hair * Early menopause * Porphyria Cutanea Tarda
Every doctor should consider Haemochromatosis in his diagnose when there is no direct cause found for one of the above complaints (2, p. 158-9), 3, 7-9).
Striking is that not all of these complaints are mentioned in every publication. This is probably because of the great variety of complaints caused by the excess iron. Chronic fatigue is most often mentioned, and one article is entirely devoted to this problem (8). This article states for example: "Fatigue is the most commonest symptom present at diagnosis regardless of whether cirrhosis is present or not. Although also a symptom of liver failure and cirrhosis, fatigue is often a prominent symptom of precirrhotic haemochromatosis with normal liver functions, suggesting that it is iron overload per se that causes this symptom" (...) "A number of studies have examined the usefulness of a variety of investigations in the assessment of patients presenting with chronic fatigue in general practice. In general such investigations have not proved useful as only a low yield of abnormal results has been found. However, such studies have not included screening tests for haemochromatosis and sometimes even liver function tests are not included"(8).
On the preceding list of symptoms we can add that patients with Haemochromatosis can have problems with: diarrhea, constipation, depression, cramp, irritability, less appetite, fainting, confusion, immune-disorders, less concentration, sleeping problems, change in body temperature, hair loss and food intolerance (3, 10).
There are doctors who state that patients with a diagnosis of Fibromyalgia, CFIDS or Irritable Bowel Syndrome (IBS) have a greatly increased chance of having Haemochromatosis (10). This sound logical, but until now there has been nothing published about this in the scientific magazines.
A first diagnosis can be made most cost-effectively by measuring the Transferrin Saturation % (T.S.% (11)) and the serum ferritin (by taking some blood from the patient). When the T.S. is above 45 % and/or ferritin is above 150 there will follow further examination to establish the diagnosis (12). With a DNA-test (cheapest is $78) the diagnosis is confirmed in about 85% off all cases (13). A liver biopsy, until recently "the gold standard" , is not necessary for the diagnosis of haemochromatosis (2, 9) but your doctor can ask for this to establish the diagnosis with more precision. When there is doubt about the diagnosis or the biopsy is refused, for understandable reasons, a trial of phlebotomy can establish the final diagnosis (2; p.153, 3). A liver biopsy however could be useful to estimate the damage to the liver!
When you are having one of the above symptoms and your doctor can not find a direct cause, you should ask your doctor if (s)he has already done the mentioned tests or if (s)he wants to do this. Also an eventual anemia (shortage of iron) should be tracked this way. Measuring of hemoglobin and/or hematocrit does not give a certain diagnosis and they are therefore of no use for the diagnosis of this disorder! Be sure to know your own exact T.S.% and serum ferritin level! As mentioned before, doctors underestimate the problem of iron overload and use too high serum values for their "normal range" and/or do not respond when they are elevated.
This is concerning, as it is essential to intervene as quickly as possible. For this reason, several investigations and (medical-) organizations dispute for the preventive screening of the whole population on Haemochromatosis. According to them this should be done with everyone above the age of 20 years (1, 2; p. 140). Despite overwhelming evidence supporting the necessity of screening, several investigators and mainstream medical organizations still dispute the benefits of preventive screening.
Most people still think that when you are tired you should take iron supplements. After what you have read here, it should be clear that iron supplements should not be taken before one is thoroughly examined, (14) including the above mentioned tests. This is not always done, with possible negative consequences. If you used iron-supplements (in great quantities?) in the past, without being thoroughly examined, you should ask for these tests.
The treatment of Haemochromatosis is simple and cheap, namely bloodletting. With this method excess iron is removed easily and quickly in large amounts in the most efficient way. When bloodletting is not possible there are alternative options. After treatment, and if the diagnosis is fairly early, most complaints usually disappear."


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Haemochromatosis Cookbook Review

The Official Patient Sourcebook on Hemochromatosis  Review

21st Century Ultimate Medical Guide to Hemochromatosis - Authoritative Clinical Information for Physicians and Patients (Two CD-ROM Set)

Hemochromatosis Exposing The Hidden Dangers of Iron Book Review

Hemochromatosis: Genetics, Pathophysiology, Diagnosis and Treatment (For Medical Professionals) Review

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