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.
Consequences of New Insights in the Pathophysiology of Disorders of Iron and
Heme Metabolism Hematology 2000
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.
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.
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.
clinical spectrum and prognosis of hemochromatosis,
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
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]
Health-What Is Hemochromatosis? By Amanda
Ewart Toland, PhD Reviewed by Chris
Friedrich, MD, PhD Last updated September 1, 2000
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.
may present as exercise related joint pains without arthropathy,
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
- 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.
have not been able to retrieve the url to the website from where this came, so
if anyone locates it, please let me know!]
A Common, Rarely Diagnosed Disease
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.
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.
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.
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
Hemochromatosis--A Risk Factor for Cardiovascular Disease
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
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
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.
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.
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
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
Anaemia and Iron Storage Disease
Discussion of the different types of anemia, as well as the effects of
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
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.
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
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.
on Iron Overload and Hemochromatosis CDC website,
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.
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
Transplantation and Evolution of Hemochromatosis: A Clinical Case
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]
for Iron Overload due to Hereditary Hemochromatosis
CDC website, Reyes, Michele, PhD and Muin J. Khoury, MD, PhD,
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.
iron preparations be available only by prescription?
Laegeforen 2001 Feb 10 No one should use iron tablets until iron deficiency and
its cause has been ascertained.
Click on this link to read about HH. Discussion of a liver biopsy is also
to the "Munnsters" main Hemochromatosis page