The following is reposted from ME-NET by -- Albert Donnay, MHS A underestimated cause of chronic fatigue: Hemochromatosis Drs. Philip H.L. de Sterke.
Every doctor should consider Hemochromatosis 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 wether 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 Hemochromatosis can have problems with: diarrhoea, constipation, depression, cramp, irritability, less appetite, fainting, confusion, immune-disorders, less concentration, sleeping problems, change in bodytemperature, 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 Hemochromatosis (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 50% (man); 60% (woman) and/or ferritin is above 200 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 hemochromatosis (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 liverbiopsy however could be usefull to estimate the damage on 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-) organisations dispute for the preventive screening of the whole population on Hemochromatosis. 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 organisations 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 allways 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 Hemochromatosis 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, most complaints usually disappear. When you want more information on hemochromatosis, you can contact: Click here for the article--> http://members.tripod.com/~hemochromatose/onderwerpen/011 (2) Practice Parameters for Hereditary hemochromatosis; Witte, D.; e.a.; Clinica Chimica Acta 245 (1996) 139-200. (3) Hereditary hemochromatosis. Preventing chronic effects of this underdiagnosed disorder. McDonnell SM, Witte D; Postgrad Med 1997 Dec;102(6):83-85. Klik here for the article--> http://members.tripod.com/~hemochromatose/onderwerpen/061 (4) Prevalence of hemochromatosis among first-time and repeat blood donors in Norway; Bell H, Thordal C, e.a.; J Hepatol 1997 Feb;26(2):272-279 (5) Cost-effectiveness of screening for hereditary hemochromatosis; Phatak-PD; Guzman-G; e.a.; Arch-Intern-Med. 1994 Apr 11; 154(7): 769-76. (6) The number of people found to be clinically iron overloaded is 1 in 200 to 300. So even more people may have the genetic condition causing it. (7) Hemochromatose: verschillende presentaties van een veranderend ziektebeeld; Salm, E.; Hart, W.; Ned. Tijdschr. Geneeskd 1993; 137, nr34, pp. 1697-00.Klik here for the article--http://members.tripod.com/~hemochromatose/onderwerpen/60 Hemochromatose: verschillende presentaties van een veranderend ziektebeeld (8) Familial chronic fatigue; George, D.K.; Evans, R.M.; Gunn, I.R.; Postgraduate Medical Journal 1997 May 73 (859) 311-3. Klik here for the article--> (9) De meest voorkomende maar minst herkende erfelijke ziekte Hemochromatose; Meijer, H.; Plomp. A.; e.a. Informatiebullitin Interne Geneeskunde Academisch Ziekenhuis Maastricht (1996) no. 4. Klik here for the article--> (10) The Irritable Bowel Syndrome (IBS) - And The Iron Connection; Leslie N. Johnston, DVM 1997. Not (yet) official published. Klik here for the article--> http://members.tripod.com/~hemochromatose/onderwerpen/56 (11) T.S.% = Serum Iron (SI)/ Total Iron Binding Capacity (TIBC) * 100% (12) This is an average. There is not yet a consensus about the use of normal values. The specialised doctors allied to the worlwide organisation for Hemochromatosis use a T.S. 45% and ferritin 150 as upper limits. Have a look at: http://members.tripod.com/~hemochromatose/guidelines (13) The DNA test can confirm genetic hemochromatosis. But, on the other hand it can not exclude hemochromatosis. The T.S. and ferritine should allways be decisive! (14) The dangers of too much iron; Mayo Clinic family Health Book; 1990; p.479. |