Fatigue, weakness, muscle pain, depression.  
Chronic Fatigue Syndrome[CFS] - Fibromyalgia[FM]

These symptoms may be some of the first indications of too much iron, yet it goes unchecked in many cases.  The patient may receive a diagnosis of CFS &/or FM, when the underlying condition could be iron overload.  ALL patients suffering from chronic fatigue, muscle pains or depression should be screened for  iron overload!  Click on the title to read about these symptoms associated with HH.

• Answers to your questions about hereditary hemochromatosis
   from The College of American Pathologists (CAP) Dec 18, 2001

• A possible underestimated cause of chronic fatigue: Hemochromatosis 
  Drs. Philip H.L. de Sterke. April 1998

• Clinical Consequences of New Insights in the Pathophysiology of Disorders of Iron and Heme Metabolism Hematology 2000  The American Society of Hematology The screening strategy could be based on the assessment of serum transferrin saturation in adults aged 18 or more. Genetic testing testing for C282Y would be confined to individuals with transferrin saturation > 45%. This strategy would then avoid the ethical, logistical, and financial problems raised by systematic genetic testing as well as the societal impact of discovering a genetic mutation in asymptomatic persons without a disease. It is, in fact, essential that major changes occur in the attitudes towards unexpressed or slightly expressed HFE homozygosity, especially by insurers and health care administrators, to avoid any adverse genetic discrimination.

• Clinical Features of Genetic Hemochromatosis in Women Compared with Men 
  Abstracts - August 19, 1997 ANNALS OF INTERNAL MEDICINE  Recognizing the nonspecific nature of presenting symptoms in women is essential for early diagnosis and treatment

• Clinical spectrum and management of haemochromatosis 
  Baillieres Clin Haematol 1994 Dec Further strategies have to evaluate the design of screening programmes in order to diagnose more patients in the precirrhotic and asymptomatic stage.
  
• Current diagnosis: hereditary metabolic diseases of the liver  Primary Hemochromatosis, Wilson disease,  Schweiz Rundsch Med Prax 1996 Nov  [article in German]
  
• Diagnosis and management of hemochromatosis
  by Dr. Anthony Tavill, Director of the Maurice and Sadie Friedman Center For Digestive Diseases and Liver Disorders, Mathile and Morton J. Stone Professor of Digestive Diseases and Liver Disorders at the Mt. Sinai Medical Center, Professor of Medicine and Nutrition at Case Wetern Reserve University. [Excellent & thorough article of diagnosis & treatment.  This is a pdf file] 

• Diagnosis and treatment of genetic hemochromatosis Rev Prat. 2000 May 1 [Article in French]
  Moirand R, Guillygomarc'h A, Brissot P, Deugnier Y. The disease can be lethal due to liver disease, carcinoma or heart disease, but life expectancy goes to normal if patients are treated before the occurrence of cirrhosis. Treatment relies on regular venesections. Familial screening is essential.
  
• Disease-Related Conditions in Relatives of Patients with Hemochromatosis
  Zaneta J. Bulaj, M.D., Richard S. Ajioka, Ph.D., John D. Phillips, Ph.D., Bernard A. LaSalle, B.S., Lynn B. Jorde, Ph.D., Linda M. Griffen, B.A., Corwin Q. Edwards, M.D., and James P. Kushner, M.D.  Volume 343:1529-1535  November 23, 2000  Number 21  In conclusion, our data emphasize the importance of screening relatives of persons with hemochromatosis.
  
• Dr. Rose's Peripheral Brain--HEMOCHROMATOSIS
  
• Epidemiology, clinical spectrum and prognosis of hemochromatosis,
  abnormality in liver function tests (75%), weakness and lethargy (74%), skin hyperpigmentation (70%), diabetes mellitus (48%), arthralgia (44%), impotence (45% in males), and ECG abnormalities (31%) were the most frequent findings and symptoms at diagnosis.  Adv Exp Med Biol 1994
  
• Fibromyalgia, Chronic Fatigue, Alzheimer's:  Causes (?) and Treatment 
  by Darrell Stoddard   Copyright 2001

• Genetic Haemochromatosis:   A guideline on Diagnosis & Therapy compiled on behalf of the Clinical Task Force of the  British Committee for Standards in Haemotology  2/2000 [a pdf file]
  
• Genetic Health-What Is Hemochromatosis? By Amanda Ewart Toland, PhD  Reviewed by Chris Friedrich, MD, PhD Last updated September 1, 2000
  
• Haemochromatosis and Diabetes– By Paul Steel.  Paul Steel is a diabetes educator with Manningham Community Health Service in Victoria. He has both a personal and professional interest in haemochromatosis, the most common genetic disorder in Australia, occurring in about one in 300 people.
  
• Haemochromatosis may present as exercise related joint pains without arthropathy, early treatment improving outcome, Case reports including x-ray pictures of hips, hands, knees. CLINICAL REVIEW Lesson of the week: Ian McCurdie and J David Perry BMJ 1999
  
• Hemochromatosis can now be appropriately defined as the presence of two hemochromatosis alleles with or without organ injury, and with or without the presence of iron overload. [I have not been able to retrieve the url to the website from where this came, so if anyone locates it, please let me know!]
  
• Hemochromatosis: A Common, Rarely Diagnosed Disease
  By Vincent J. Felitti, MD, FACP  Commentary by David Baer, MD, FACP.  Hemochromatosis is the most common, life-threatening genetic disorder in North America, yet most physicians have never personally diagnosed a case: all see an unrecognized case in their offices every two weeks.
  
• Hemochromatosis, A simple genetic trait, Dr. Richard D. Press, Oregon Health Sciences University With the discovery of the causative gene, the disorder stands revealed as America's single most common mendelian disease. Unlike other genetic diseases, it is already curable. Indeed, genetic screening makes it potentially preventable.

• Hemochromatosis:  Conemaugh Health System  
  Hemochromatosis is a condition that develops when too much iron builds up in the body. Excess iron is stored in the organs, such as the kidneys, liver, and heart, and in the joint tissues.

• Hemochromatosis  Gale Encyclopedia of Medicine The symptoms of hemochromatosis include fatigue, weight loss, weakness, shortness of breath, heart palpitations, chronic abdominal pain, and impaired sexual performance. The patient may also show symptoms commonly connected with heart failure, diabetes or cirrhosis of the liver. Changes in the pigment of the skin may appear, such as grayness in certain areas, or a tanned or yellow (jaundice) appearance.
  
• Hemochromatosis: Gastrointestinal Health Hemochromatosis, the most common genetic disease in the United States, results in iron overload and, if left untreated, severe organ damage. 

• Hemochromatosis:  Life Extension Foundation website.  Disease, Prevention & Treatment 3rd editon.  Dietary & Vitamin recommendations listed here including calcium for blocking of iron absorption.
  
• Hemochromatosis Special  American Liver Foundation newsletter,  ALF Progress, Vol. 21 No. 1, Summer 1999 The ALF newsletter created three scenarios based on the real life ethical, economic and medical quandaries posed by hemochromatosis, and asked three experts from divergent fields to respond with their opinions. The experts are: Bruce R. Bacon, MD [Director, Div. of Gastroenterology & Hepatology, Saint Louis University School of Medicine, St. Louis, M0]; medical ethicist Mark A. Rothstein, Esq. [Director, University of Houston Law Center, Health Law & Policy Institute, Houston, TX] and hemachromatosis patient Gayle Hoffman.
  
• Hereditary Hemochromatosis--A Risk Factor for Cardiovascular Disease The HH mutation is a human genetic model of disturbed iron metabolism, which facilitates research to the mechanism of HH and iron involved in cardiovascular disease. We expect that in the near future, the mechanism of disturbed iron metabolism leading to cardiovascular disease in human will be better understood.

• Hereditary Hemochromatosis 
  CME Activity, Release Date: 2/28/2000 Expiration Date: 2/28/2002 From the February 2000 Issue of Physician Assistant  Objectives: After reading the article, the reader should be able to:
  1. describe the pathophysiology of hereditary hemochromatosis;
  2. recognize the clinical symptoms and signs of hereditary hemochromatosis;
  3. outline screening and evaluation testing; and
  4. provide accurate diagnosis, management, and treatment.

• Hereditary Hemochromatosis FamilyPractice.com  Robert B. Hash, MD, Department of Family Medicine, Mercer University School of Medicine, Macon, Ga. [J Am Board Fam Pract Dec. 2000] Considering the prevalence of the disease, it is important for physicians to consider it in the differential diagnosis when patients complain of the common signs and symptoms. For most patients hereditary hemochromatosis can be successfully treated in the physician's office. Early diagnosis and treatment, before signs of iron toxicity, if possible, can result in improved quality and quantity of life for many patients.
  
• Hereditary hemochromatosis: Preventing chronic effects of this underdiagnosed disorder
  Sharon M. McDonnell, MD, MPH; David Witte, MD, PhD VOL 102 / NO 6 / DECEMBER 1997 / POSTGRADUATE MEDICINE.  In this article, Drs McDonnell and Witte discuss the diagnosis and management of this underrecognized problem as well as the various issues involved in screening. An illustrative case of hemochromatosis is also included.

• Hereditary hemochromatosis Rev Med Interne 2000 Nov  At present, any patient admitted with an isolated case of asthenia, or with arthralgia or hypertransaminasemia should be examined via transferrin-saturation testing: if the transferrin saturation coefficient is > 45%, then the presence of the C282Y mutation should be investigated to confirm the diagnosis of hemochromatosis. A liver biopsy is no longer necessary to establish the diagnosis.
  
• Hereditary Hemochromatosis Since Discovery of the HFE Gene  Clinical Chemistry 2001 [a pdf file] Includes an algorithm for screening and diagnosis of hemochromatosis. This review provides a comprehensive discussion of known mutations in the HFE gene and their phenotypic expression
  
• Investigating Anaemia and Iron Storage Disease
  Discussion of the different types of anemia, as well as the effects of iron overload.  
  
• Iron is Hot:  An Update on the Pathophysiology of Hemochromatosis: Blood Journal Sept. 15, 1998  Genetic iron overload disorders are prevalent yet poorly understood. [A pdf file.]
  
• Iron overload and psychiatric illness  Can J Psychiatry 1994 Feb,  Dr. Paul Cutler.  These cases indicate a need to be aware that disordered iron metabolism is a somatic cause of psychiatric illness and that there is clinical improvement upon lowering elevated iron levels in patients with iron overload.
  
• Iron Overload Disease due to Hereditary Hemochromatosis  CDC website, National Center for Chronic Disease Prevention and Health Promotion.  Early detection and treatment for this genetic condition can lessen morbidity and mortality, and in some cases prevent the onset of disease. Therefore, early detection of hemochromatosis represents a major chronic disease prevention opportunity.

• Management of hemochromatosis. Hemochromatosis Management Working Group.
  Ann Intern Med. 1998 Dec 1  Barton JC, McDonnell SM, Adams PC, Brissot P, Powell LW, Edwards CQ, Cook JD, Kowdley KV.  The complications of iron overload in hemochromatosis can be avoided by early diagnosis and appropriate management.
  
• Overview on Iron Overload and Hemochromatosis CDC website, National Center for Chronic Disease Prevention and Health Promotion.  Early detection of hemochromatosis is essential because the disease’s potentially serious complications can be prevented by early therapy.
  
• Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis. Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA.   College of American Pathologists Clin Chim Acta 1996 Feb.   In view of the high prevalence in the American population (prevalence varies with ethnic background), the low cost of diagnosis and treatment, the efficacy of treatment if begun early, and, on the other hand, high costs and low success rate of late diagnosis and treatment, systematic screening for hemochromatosis is warranted for all persons over the age of 20.
  
• Renal Transplantation and Evolution of Hemochromatosis:  A Clinical Case Report
  Despite being one of the world's most frequent autosomal recessive diseases, there are very few cases in the literature concerning hereditary hemochromatosis and renal transplantation. [a pdf file]
  
• Screening for Iron Overload due to Hereditary Hemochromatosis 
  CDC website, Reyes, Michele, PhD and Muin J. Khoury, MD, PhD,  National Center for Chronic Disease Prevention and Health Promotion  Identifying people early with evidence of iron overload represents a major chronic disease prevention opportunity.

• Should all patients with diabetes mellitus be screened for hemochromatosis?   Department of Family Medicine University of California, Los Angeles 924 Westwood Blvd, Suite 650 Los Angeles, CA 90095-1628  West J Med 2002;176:110-114  Enhanced case finding becomes the first stage in a public health response when evidence has emerged for an effective early treatment of a disorder. It means the detection of HHC at the time of early symptoms, and it allows patients to benefit from early phlebotomy.  The implementation of this approach would include adding fasting serum transferrin saturation to the usual workup of patients with newly diagnosed diabetes mellitus, arthritis, and impotence.  The CDC recommends such iron-overload testing in anyone with possible symptoms of hemochromatosis, which includes patients with newly diagnosed diabetes mellitus.
  
• Should iron preparations be available only by prescription?  Tidsskr Nor Laegeforen 2001 Feb 10 No one should use iron tablets until iron deficiency and its cause has been ascertained. 

• The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology. 1997 Jan The nonspecific nature of the presenting features in patients and the presence of significant clinical symptoms in patients discovered through family investigations underscore the importance of family and population screening for hemochromatosis.  The prevalence of cirrhosis, diabetes, cardiac disease, pigmentation, and fatigue increased as liver iron concentration increased. The most common presentations at diagnosis were fatigue
  
• Venesection therapy of insulin resistance-associated hepatic iron overload
  J Hepatol 2001 Sep The association of hepatic iron overload with metabolic disorders has been coined as the insulin resistance-associated hepatic iron overload syndrome (IR-HIO).

Click on this link to read about HH. Discussion of a liver biopsy is also here: 

Back to the "Munnsters" main Hemochromatosis page