Cardiac links, abstracts, articles, etc.
Click on the title to read more about iron & the heart.
A history of phlebotomy therapy for hemochromatosis. Crosby WH.
Chapman Cancer Center, Joplin, MO Am J Med Sci 1991 Jan The earlier the
disease is discovered, the less risk of morbidity and mortality. Screening
tests (serum iron, total iron-binding capacity, serum ferritin) are
recommended for all blood relatives of index cases of this hereditary disease
and for all clinics where complications of hemochromatosis may be treated:
liver disorder however mild, diabetes mellitus, heart disease, arthropathies,
sterility, impotence, premature menopause, and abnormal pigmentation of the
Biochemical and Genetic Markers of Iron Status and the Risk of Coronary
Artery Disease: An Angiography-based Study.
Clin Chem 2002 Apr;48(4):622-8 Bozzini C, Girelli
D, Tinazzi E, Olivieri O, Stranieri C, Bassi A, Trabetti E, Faccini G,
Pignatti PF, Corrocher R. Department of Clinical and
Experimental Medicine, Department of Mother and Child, Biology and Genetics,
and. the Institute of Clinical Chemistry, University of Verona, 37134 Verona,
Italy. CONCLUSIONS: Our results do not support a role for
biochemical or genetic markers of iron stores as predictors of the risk of CAD
or its thrombotic complications.
hemochromatosis: beneficial effects of iron removal therapy. An echocardiographic study.
significant increases in left ventricular (LV) mass, end-diastolic and
end-systolic diameters of the left ventricle and in left atrial dimension were
observed in patients with IH; significant changes of systolic function indexes
(decrease in fractional shortening and ejection fraction and increase in
distance of the E point to the septum) were seen as well. Am J Cardiol
1983 Oct 1
Cardiomyopathy as the cause of death in genetic hemochromatosis-.
Z Gastroenterol. 1996 Mar [article in German] The reports of these two cases
underline that hemochromatosis-associated cardiomyopathy is often irreversible
if severe congestive heart failure is present. In cardiac decompensation heart
transplantation has to be considered as early as possible.
Chronic iron overload and toxicity: clinical chemistry perspective.
Clin Lab Sci 2001 Summer; This toxicity involves many
organs leading to a variety of serious diseases such as liver disease, heart
disease, diabetes mellitus, hormonal abnormalities, dysfunctional immune
system, etc. The tissue damage associated with iron overload is believed to
result primarily from free radical reactions mediated by iron.
Clinical 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
Clinical management of iron overload.
Gastroenterol Clin North Am. 1998 Sep HHC is a common
inherited disorder, characterized by iron accumulation in the liver, heart,
pancreas, and other organs. The clinical consequences of systemic iron
loading are diverse and not always improved with iron reduction therapy.
Studies of Haemochromatosis Queensland
Institute of Medical Research, Hepatocellular Cancer Laboratory,
Professor Lawrie Powell Knowledge of haemochromatosis, its
prevention, the type and severity of symptoms it causes, the availability
and nature of treatment, ability of sufferers to participate in normal
activities, and longevity are relevant issues for community education.
Members of an informed public can mobilise support for the early diagnosis
of haemochromatosis, encourage people to be tested for the disorder and
influence the debate about screening.
Combined orthotopic heart and liver transplantation for genetic
J Heart Lung Transplant. 1997 May Division of Cardiovascular Diseases and
Internal Medicine, Mayo Clinic and Mayo Foundation, Rochester, Minnesota,
55905, USA. A 47-year-old man with cirrhotic liver disease complicated
by encephalopathy and class IV congestive heart failure caused by genetic
hemochromatosis underwent combined orthotopic heart and liver
transplantation. The patient remains well, working full time, 4 years after
operation. Combined heart and liver transplantation is an effective therapy
for selected patients with concurrent heart and liver failure caused by
systemic iron overload.
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
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
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, 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
Iron Damages Blood Vessels
Optimal Wellness Center Issue
179 November 12, 2000 Dr. Joseph Mercola. Although iron is an essential
and important nutrient, excessive levels can cause significant harm. A new
study has shown that excess iron can cause damage to the endothelium, the
inner lining of blood vessels, boosting a person's chances of developing
hardening of the arteries (atherosclerosis) and heart attack.
Excess Iron Throws Out Welcome Mat to Bacteria
Heart, liver, intestines may suffer from over-fortified diet 11/2/2001 News
By Serena Gordon
(HealthScoutNews) -- Too much iron in the diet could be making people more
susceptible to intestinal infections, claims a new study. And that puts
into question whether U.S. food makers need to fortify foods with iron, says
one of the nutritionists who conducted the research.
A case of Hereditary Hemochromatosis with dilated cardiomyopathy,
micronodular cirrhosis, history of chronic alcoholism from Department of
Pathology, University of Pittsburgh School of Medicine.
reich's Ataxia Fact Sheet ......the
finding of abnormally high levels of iron in the heart tissue of people with
Friedreich's ataxia National Institute of Neurological Disorders and
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]
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.
Hemochromatosis: a review. Clin J Oncol
Nurs 2001 Nov-Dec;5(6):257-60 Dolbey CH. Fletcher Allen
Health Care, UHC Campus, Arnold 2, 1 South Prospect Avenue, Burlington, VT,
05401, USA. This disorder affects the liver, pancreas, heart, and endocrine
systems, and if undetected and untreated, organ damage and death can result.
- 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 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!]
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.
Cooley Dickinson Hospital
Editor: George R Bowers MD
CDH Oncology January
2000 Volume 4: No. 1.
Hemochromatosis is a common, genetically transmitted disease. The
diagnosis of hemochromatosis is sometimes difficult and frequently missed.
This issue will review the pathogenesis, diagnosis and treatment of this
fascinating disease. Ms. Kathy Fleming will review the management of a most
troubling complication of therapy---lymphedema.
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.
in Ireland and HFE.
Blood Cells Mol Dis. 1998 The allele
frequency of 14% for the C282Y mutation in our control population is the
highest reported and supports the hypothesis of a Celtic origin for the
hereditary hemochromatosis gene.[pdf file]
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 Gayle Hoffman.
Hereditary hemochromatosis. Ann Clin Lab Sci. 1998
Sep-Oct Patients at risk for genetic
hemochromatosis should be screened, identified, and treated as early as age 20
to prevent or minimize the deadly complications of hemochromatosis. Population
screening should include measurements of serum iron concentration, total iron
binding capacity (TIBC), percent saturation of transferrin, and serum ferritin
concentrations. Early diagnosis and treatment will reduce the population
of aging individuals with severe, complicated hemochromatosis and dramatically
reduce medical costs (billions of U.S. dollars per annum) associated with the
management of this disease.
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.
Hereditary hemochromatosis in children, adolescents, and young adults.
Am J Pediatr Hematol Oncol. 1988 Spring
Young individuals who should be screened for iron
overload include patients with cardiac myopathies, hypogonadism, amenorrhea,
loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the
liver, and arthritis, as well as the siblings, parents, and children of
patients with hereditary hemochromatosis or iron loading of unknown cause.
J Fam Pract, 44(3):304-8 1997 Mar
Hereditary hemochromatosis is a genetic disorder of iron metabolism that has an
excellent prognosis if diagnosed early.
HFE gene knockout
produces mouse model of hereditary hemochromatosis
Proc Natl Acad Sci U S A. 1998 Mar.
Xiao Yan Zhou,
Shunji Tomatsu, Robert E. Fleming, Seppo Parkkila,
Abdul Waheed, Jinxing Jiang, Ying Fei,
Elizabeth M. Brunt, David A. Ruddy, Cynthia E. Prass,
Randall C. Schatzman, Rosemary O'Neill, Robert S.
Britton, Bruce R. Bacon, and William S. Sly
The knockout mouse model of HH will facilitate
investigation into the pathogenesis of increased iron accumulation in HH and
provide opportunities to evaluate therapeutic strategies for prevention or
correction of iron overload.
catalyzed oxidative damage, in spite of normal ferritin and transferrin
saturation levels and its possible role in Werner's syndrome, Parkinson's
disease, cancer, gout, rheumatoid arthritis, etc.
Med Hypotheses 2000
Sep the disease is often overlooked by physicians, until several organs have
been damaged permanently (heart, liver, brain, pancreas, kidneys, spleen, etc.).
Moreover, since ferritin, transferrin saturation and hematocrit levels are not
directly related to cellular iron levels, and since excess iron can wreak havoc
in the cell, we can conclude that there is a need for a better way to evaluate
intracellular iron levels and especially the intracellular free iron levels by a
Gene Mutation Increases Heart Attack Risk
Full Health Nutrition Canada ArterialHealth e-News© December
1999 [located about halfway down the page] Those with an abnormal iron gene
faced a 52% increased risk of heart attack with each 100 microgram increase
in ferritin, while the risk in those with normal iron genes varied little
with ferritin concentration. Carriers almost universally don't know that
they are at increased risk... They have almost no increase in iron stores,
but that small increase is significant and that small increase is probably
what caused the increased incidence of heart disease deaths.
Iron Loading and
Eugene D. Weinberg Indiana University, Bloomington, Indiana
Emerging Infectious Diseases Journal,
National Center for Infectious Diseases, Centers for Disease Control and
Prevention. Excessive iron in specific tissues and cells (iron loading) promotes
development of infection, neoplasia, cardiomyopathy, arthropathy, and various
endocrine and possibly neurodegenerative disorders.
Overload Disease due to Hereditary Hemochromatosis
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.
Overload Disorder Common and Increases Risk for Heart Attacks Issue
117 September 5, 1999 Optimal Wellness Health News Excerpt from Dr.
Mercola's comments: The simple screening test to check for this problem is
the serum ferritin level. It should be below 80. If it is
significantly above 100, there is a high likelihood of
hemochromatosis. I screen all of our heart disease patients for this
and I probably see it on nearly ten percent of these patients.
Overload (Hemosiderosis; Hemochromatosis)
The Merck Manual of
Diagnosis and Therapy Section 11. Hematology And Oncology Chapter 128.
Hemochromatosis is often diagnosed late in the course of disease after
significant tissue injury is present because the clinical symptoms are
insidious and the extent of organ involvement varies; thus, the full
clinical picture evolves slowly
Iron: 'Too Much Is A
by Joseph B. Verrengia [News Science Writer]
High levels of
iron, already considered to be a major risk factor in heart attacks, are being
implicated in the progression of AIDS, Lou Gehrig's disease and cancer.
"Iron will be the cholesterol of the 1990s," McCord predicts, ". . .most
people don't know their iron status."
Long-term survival in patients with hereditary hemochromatosis Gastroenterology, Vol 110, 1107-1119, 1996 by American Gastroenterological
Association Prognosis of hemochromatosis and most of its
complications, including liver cancer, depend on the amount and
duration of iron excess. Early diagnosis and therapy largely
prevent the adverse consequences of iron overload.
Management of hereditary hemochromatosis. Blood
Rev. 1994 Dec
Phatak PD, Cappuccio JD. Early diagnosis and
institution of phlebotomy treatments will prevent these manifestations and
normalize life expectancy. Once organ damage is established many of the
manifestations are irreversible. Since the early manifestations of the disease
are subtle, a case can be made for routine screening.
Molecular genetics of hemochromatosis
Ann Endocrinol (Paris) 1999 Sep Hemochromatosis is a recessive disorder of iron
metabolism characterized by progressive iron loading of parenchymal organs,
which accounts for clinical complications such as cirrhosis, diabetes mellitus,
cardiopathy, endocrine dysfunctions and arthropathy.
People Get Too Much Not Too Little Iron
Optimal Wellness Center Issue 200 March 7, 2001 Dr. Joseph
Mercola. DR. MERCOLA'S COMMENT: I have warned about the dangers of
iron many times before in this newsletter. It is a potentially dangerous
supplement and it needs to be used very cautiously, especially in those with
an increased risk of heart disease.
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.
Cases for Diagnosis: A 37 year old male is referred to the liver clinic
for evaluation of abnormal liver related enzymes. Includes pictures of
biopsy slides. Case 96-19: Liver II Contributed by D. Robert Dufour, M.D., CAPT,
MC, USNR-R Date Available: July 22, 1996 - December 31, 1996
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
IRON OUT OF THE FIRE
by Shelly Morrow.
This article appeared in the Sept/Oct
2000 issue of Arthritis Today, published
by the Arthritis Foundation, Inc.
Refractory heart failure in a 26-year-old woman with idiopathic
Rev Port Cardiol. 1994 Oct In this paper, we report a case of a young
woman with a eight years evolution of amenorrhea, cardiac failure, diabetes
mellitus and increased pigmentation of the skin, associated with biochemical
markers of iron overload. It is emphasized that hemochromatosis most be
excluded in all patients with a unexplained cardiac failure.
Targeted therapy directed against specific causal entities (such as the use
of somatostatin analogues in carcinoid syndrome or iron chelation with
desferrioxamine in hemochromatosis) may be more effective than simple
symptomatic therapy. Curr Treat Options Cardiovasc Med 2000 Oct
aspects of iron in food.
Ann Nutr Metab 2001; There is no regulated iron excretion in overload.
Excess of pharmaceutical iron may cause toxicity and therapeutic doses may cause
gastrointestinal side effects.
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.
and Infiltrative Cardiomyopathies
Curr Treat Options Cardiovasc Med 2000
Oct Rush Heart Failure and Cardiac Transplant Program, Rush-Presbyterian-St.
Luke's Medical Center, 1725 West Harrison Street, Suite 439, Chicago, IL
Patients with hemochromatosis related cardiomyopathy should be treated with iron
chelation therapy and phlebotomy.
articular damage of hemochromatosis.
A little known aspect Recenti Prog
Med 1999 Apr The aim of this report is to underline that the patients with
premature osteoarthritis or unexplained chondrocalcinosis must be screened for
genetic haemochromatosis in order to formulate the correct diagnosis before the
development of severe internal organ involvement
The HFE CYS282Tyr
polymorphism is associated with cardiovascular mortality.
Roest M, Schouw Yvd, B. de Valk BD, Marx JJM, Tempelman M, de Groot P, Sixma
J, Banga JD. Presented at the July 1998 meeting of the European Iron
Club. Conclusions: Heterozygosity for HH is associated with increased risk
of cerebrovascular and total cardiovascular mortality, in particular in
combination with hypertension and smoking. Long term exposure to minimal
iron overload may enhance atherosclerosis.
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
fit for a heart attack?
Well known marathon runner and author Jim
Fixx had just had a checkup. His values were normal, including cholesterol, so
the doctor declared him fit. Two days later he died of a heart attack.
Much Iron in Your Blood? Then donate a pint. Research shows a possible link between higher blood iron
levels and risk of heart disease. Some experts say it's another great reason
to give blood. By Michael Alvear WebMD Medical News
of HFE Mutation Analysis for Hereditary Hemochromatosis: The
Need for Physician Education in the Translation of Basic Science to Clinical
PracticeManish Kohli, MB, ChB, Steven A. Schichman, MD, PhD, Louis Fink, MD, Clive
S. Zent, MB, BCh, Department of Internal Medicine, Division of
Hematology/Oncology and the Department of Pathology, John L. McClellan Memorial
Veteran's Hospital and University of Arkansas for Medical Sciences, Little Rock.
Southern Medical Journal
Click on this link to read about HH. Discussion of a liver
biopsy is also here:
to the "Munnsters" main Hemochromatosis page