Liver related topics, abstracts, articles, sites,
Liver enzymes, cirrhosis, cancer, dysfunction, biopsy & more.
Links pertaining to esophageal varices are also found here.
The liver is the major site of iron
storage in our bodies, making it susceptible to great damage from excess iron
deposition in the condition of Hereditary Hemochromatosis.
Mild enlargement of the liver may
occur early in the disease process with complaint of pain & tenderness
occurring under the right rib cage. Although liver enzymes are often not
elevated until the disease is in the advanced stages, ALL abnormal liver
function studies should be followed up with an iron profile to rule out HH.
Fibrosis and cirrhosis occur as a
result of the hepatic damage from excess iron, so it is important to diagnose HH
before this damage is present. The cirrhosis from excess iron is similar
to that of alcoholic cirrhosis, and many patients are falsely accused of being
alcoholics. While drinking alcoholic beverages does indeed increase iron
absorption & should be avoided, cirrhosis may also occur in those who have
never drank. Since cirrhosis frequently results in cancer of the liver, anyone
who is diagnosed with cirrhosis of the liver should be closely monitored for
life for signs of hepatic cancer.
The following links will direct
you to references on liver problems associated with iron overload, as well as
articles to help you understand the functions of the liver. Click on the
title to read more on these topics.
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
liver profile in hemochromatosis. A survey of 100 patients.
J Clin Gastroenterol 1991 Jun; We find that mild abnormalities in the
biochemical liver profile are common in hemochromatosis and suggest that
patients with an unexplained abnormality in the liver profile should be screened
for hemochromatosis with a serum ferritin and transferrin saturation.
Can Cirrhosis be Prevented?
By Marilyn Sterling, R.D. From The
January 1999 Issue of Nutrition Science News. The liver truly is
remarkable--directly affected by nearly everything a person eats, drinks and
breathes, it is still durable and capable of regeneration. Tucked away on the
right side of the abdomen, the liver is the human body's largest internal
organ, serving as command central for a variety of vital metabolic processes.
of primary liver malignancies
Langenbecks Arch Surg 2000 Apr The main
risk factors for the development of HCC are viral infections (hepatitis B and
C), alcohol use, and the intake of mycotoxins in some areas of the world. In
addition to these risk factors, genetic disorders such as hemochromatosis or
alpha1-antitrypsin deficiency play a role.
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.
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.
Clinical experience with early hemochromatosis
Tidsskr Nor Laegeforen. 1994 Jun [Article in Norwegian]
We conclude that fasting serum-iron and transferrin should be determined in
all subjects over 40 years of age and in patients with chronic elevation of
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.
Laboratory Tests in Liver Diseases
Howard J. Worman, M. D. Division of Digestive and Liver Diseases
Departments of Medicine and of Anatomy and Cell Biology College of Physicians
& Surgeons Columbia University The
purpose of this page is to briefly describe some of the common laboratory tests
that may be abnormal in individuals with liver diseases.
Current concepts in rational therapy for haemochromatosis.
Drugs. 1991 Jun . Venesection should be continued until
all excess iron stores are removed as judged by failure of a rise in
haemoglobin concentration on cessation of phlebotomy. Screening of first
degree relatives should commence from a young age (e.g. 10 years).
Dermatology and the Liver and the Pancreas: Hemochromtaosis Section
6 of 10. Emedicine journal Sept. 27, 2001. Hemochromatosis is a
disorder of increased iron uptake leading to excess deposition in multiple
body organs. The dermatologic manifestation of the disease involves skin
hyperpigmentation, which is present in more than 90% of patients at the time
of diagnosis. This discoloration has a characteristic metallic gray or
bronze-brown color that is generally diffuse, but it may be increased in areas
of scars or on the face, neck, extensor surfaces of the arms, or genitalia.
Approximately 20% of patients also have pigmentation of the buccal mucosa or
Diabetes mellitus in hemochromatosis Z
Gastroenterol. 1999 Jun [Article in German] The
degree of glucose intolerance and diabetes mellitus in hemochromatosis is
closely associated with the stage of iron overload and thus also the stage of
the accompanying liver disease. Similar to other liver diseases glucose
intolerance due to insulin resistance precedes diabetes mellitus also in
Diagnosis and management of
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]
and management of precirrhotic hemochromatosis
Gushurst TP, Triest WE. Department of Pathology, Cabell Huntington
Hospital, West Virginia. W V Med J 1990 Mar Three cases of hemochromatosis
in the precirrhotic stage of the disease are presented. The pathophysiology,
clinical and laboratory features and management are discussed. The high gene
frequency in the general population warrants routine screening tests in
asymptomatic healthy young adults.
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.
Iron Supplements - Use or not to use?
Nutrition Today James R. Connor John L. Beard 05-06-1997 There is
little reason to support a general need for iron supplementation in the diet
at any age. Perhaps this article and review of supplementation pros and cons
should conclude with a new interpretation of an old saying: "It is
better to wear out than to rust out;" don't expose your system to more
iron than it needs.
MAY CAUSE LIVER DYSFUNCTION OR DAMAGE
The liver is the principal
organ that is capable of converting drugs into forms that can be readily
eliminated from the body. This site lists the drugs which require
careful monitoring of their effects on the liver.
of iron overload on the immune system.
Ann Clin Lab Sci 2000 Oct Department of Pathology, Marshall University and
Huntington DVA Medical Center, West Virginia Increased body stores of iron in
various clinical situations may tip the immunoregulatory balance unfavorably to
allow increased growth rates of cancer cells and infectious organisms, and
complicate the clinical management of preexisting acute and chronic diseases.
hepatic iron index and end-stage liver disease.
HEPATOLOGY WATCH, Timely Information for Practicing
Physicians. The authors conclude that iron
studies are nonspecific for identifying end-stage liver patients with HHC and
that genotyping studies should be utilized. (Cotler SJ, et al.
Journal of Hepatology 1998;
liver disease without hemochromatosis associated with elevated hepatic iron
J Hepatol. 1998 Aug;29 Cotler SJ, Bronner MP, Press RD, Carlson TH, Perkins JD,
Emond MJ, Kowdley KV. Department of Medicine, University of Washington,
Seattle, USA. (i) Serum transferrin saturation and hepatic iron index lack
specificity for hereditary hemochromatosis in end-stage liver disease. (ii)
Genotyping for Cys 282 Tyr may provide the best method to identify hereditary
hemochromatosis in the setting of end-stage liver disease.
and interpretation of iron in the liver
Pathol 1998 Nov Because homozygosity for the C282Y mutation is diagnostic
of the condition regardless of the liver iron concentration-to-age ratio,
indication for liver biopsy in C282Y homozygotes is restricted to the assessment
of prognostic lesions, such as fibrosis and iron-free-foci.
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.
DIAGNOSES: A case of Hereditary Hemochromatosis with dilated
micronodular cirrhosis, history of chronic alcoholism from Department of
Pathology, University of Pittsburgh School of Medicine.
Gamna-Gandy bodies of the spleen detected with MR imaging. A case report.
Magn Reson Imaging 2001 Nov In this
case, MR imaging revealed small siderotic nodules of the spleen, called
Gamna-Gandy bodies. These lesions are found in patients with portal vein or
splenic vein thrombosis, hemolytic anemia, leukemia, or lymphoma, patients
receiving blood transfusions, acquired hemochromatosis, or paroxysmal
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 and HFE gene.
Gastroenterol Belg. 1999 Oct-Dec The practical
management of haemochromatosis has been greatly modified, since liver biopsy
is no more necessary for diagnosis in C282Y homozygotes, and is only needed
for exclusion of cirrhosis. Family screening has also greatly benefited from
AND C282Y: A SINISTER SYNERGISM?
SELECTED SUMMARY GASTROENTEROLOGY
The authors conclude that despite only modest
increases in iron stores, individuals who are heterozygous for the C282Y
mutation develop more fibrosis than homozygous normals with
hepatitis C. They speculate that this subgroup of patients may
benefit from therapeutic phlebotomy. The current study
supports the hypothesis that even minimal amounts of iron can cause or promote
liver injury in the presence of other hepatotoxic conditions, such
as alcohol abuse, chronic viral hepatitis, nonalcoholic
steatohepatitis, and chronic hepatic porphyria.
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. [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: 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.
diagnosis and management. Bacon BR. Gastroenterology 2001
Feb HFE mutation analysis has strengthened our ability to diagnose HH
accurately and is useful in family studies. HFE mutations may play a
contributory role in some patients with PCT, NASH, or chronic HCV.
eMedicine Journal, December 7 2001, Volume 2, Number 12, Authored by Sandor
Joffe, MD, Section Chief of Abdominal Imaging, Department of Radiology, Beth
Israel Medical Center This article covers the pathophysiology of
hemochromatosis as well as the techniques in using ULS, CT & MRI to
identify iron deposition in the organs. Pictures & descriptions from
scans of the abdomen are shown.
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.
MRI is superior to CT in demonstrating the fibrous capsule seen
in 50% of the hepatomas and in delineating the tumor margin and venous
invasion. Images of the liver by CT & MRI.
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.
hemochromatosis. 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.
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
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.
HFE genotype in patients with hemochromatosis and other liver diseases.
Ann Intern Med. 1999 Jun 15 Bacon
BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. All 66 patients
homozygous for the C282Y mutation of HFE had an elevated hepatic iron
concentration, but approximately 15% of these patients did not meet a previous
diagnostic criterion for hemochromatosis (hepatic iron index > 1.9 mmol/kg per
year). Determination of HFE genotype is clinically useful in patients with
liver disease and suspected iron overload and may lead to identification of
otherwise unsuspected C282Y homozygotes.
- HFE mutations in insulin resistance-associated hepatic
iron overload.J Hepatol. 2000
Sep;33;33(3):515-6. No abstract available.
Histological evaluation of iron in liver biopsies: relationship to HFE
mutations. Am J Gastroenterol. 2000 Jul
Brunt EM, Olynyk JK, Britton RS, Janney CG, Di Bisceglie
AM, Bacon BR. The use of histological evaluation for iron deposition is
simple, assists in expanding information communicated from histopathologic
observations, and may be clinically useful in determining the necessity of
further evaluation of HFE genotype in subjects with histological evidence of
hepatic iron overload.
resistance-associated hepatic iron overload
Gastroenterology 1999 Nov; This study shows that patients with unexplained
hepatic iron overload are characterized by a mild to moderate iron burden and
the nearly constant association of an IRS irrespective of liver damage.
of alcohol and iron in liver disease with particular reference to the
iron-binding proteins, ferritin and transferrin Linda M Fletcher; June W Halliday; Lawrie W Powell Journal of
Gastroenterology and Hepatology 14 (3), 202-214 It is known that the
regular consumption of alcohol is responsible for the disruption of normal iron
metabolism in humans, resulting in the excess deposition of iron in the liver in
approximately one-third of alcoholic subjects. It is known that the
regular consumption of alcohol is responsible for the disruption of normal iron
metabolism in humans, resulting in the excess deposition of iron in the liver in
approximately one-third of alcoholic subjects.
and liver diseases. Can J Gastroenterol. 2000 Nov; Iron appears to
affect the natural history of hepatitis C virus-related chronic liver
diseases, alcoholic liver disease and nonalcoholic steatohepatitis by
leading to a more severe fibrosis and thus aiding the evolution to
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
Iron in the era of molecular biology Pathol
Biol (Paris). 1999 Nov Identification of the HFE gene
and its C282Y and H63D mutations has improved the classification of iron
Loading and Disease Surveillance
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 and liver fibrosis.
Arthur MJ. J Gastroenterol Hepatol 1996 Dec; Unravelling the mechanism of
liver fibrogenesis in iron overload states may, therefore, provide important
general insights into the pathogenesis of liver fibrosis. The present
article reviews current knowledge of this field with emphasis on the role of
lipid peroxidation, sideronecrosis of hepatocytes and spillover of iron to
Iron overload and public health
Bull Acad Natl
Med. 2000 Genetic hemochromatosis, due to its
frequency (about 300,000 cases in France) and to its severity, must be
considered as a public health burden. Its curability--insofar as its diagnosis
has been made early--and the disposal of non invasive and reliable phenotypic
(transferrin saturation) and genotypic (HFE C282Y mutation) tests make its
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 (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
National Digestive Diseases Information Clearinghouse 2
Information Way Bethesda, MD 20892-3570
GALL BLADDER, & PANCREAS
Thomas A. Godwin, M.D.Department of
Pathology 1995, Cornell University Medical College Descriptions
of various diseases affecting these organs as well as pathology slides.
Long-term survival analysis in hereditary hemochromatosis.
Gastroenterology. 1991 Aug Early
diagnosis and treatment of hemochromatosis in the precirrhotic stage can lead
to long-term survival similar to that in the general population. The presence
of cirrhosis significantly increases mortality and is the major clinical
factor affecting survival.
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.
Magnetic resonance iron-free nodules in genetic hemochromatosis.
Gastroenterol. 1999 Apr The present data confirm the high prevalence of
liver cancer at the time of diagnosis, mainly in cirrhotic patients greater
than 45 years of age, and indicate that, when performing MRI for liver iron
quantification, a complete hepatic MRI examination is preferable to a simple
signal measurement in patients at risk for hepatocellular carcinoma.
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.
enzyme abnormalities: eliminating hemochromatosis as cause.
L. Witte Clinical Chemistry. 1997;43:1535-1538 Laboratory-initiated screening
unsaturated iron-binding capacity can eliminate symptomatic hemochromatosis.
Detection of hemochromatosis
before development of cirrhosis or diabetes followed by removal of
iron by therapeutic phlebotomy is associated
with length and quality of life identical to age-matched controls.
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.
in the hfe gene and their interaction with exogenous risk factors in
Blood Cells Mol Dis 2001 Mar-Apr; These data indicate that the prevalence of the main mutation associated
with hereditary hemochromatosis is significantly higher in cirrhotic Italian
patients with hepatocellular carcinoma compared to a normal population and
suggest that heterozygotes for HFE mutations exposed to hepatitis virus
infections or who had been alcohol abusers could have an increased risk of
developing cirrhosis and later liver cancer than people without the mutations
exposed to the same risk factors.
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
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.
Recognition and management of hereditary hemochromatosis.
Am Fam Physician 2002 Mar 1 65:853-60 Brandhagen DJ,
Fairbanks VF, and Baldus W Mayo Medical School, Rochester, Minnesota, USA. The
HFE gene test is useful in confirming the diagnosis of hereditary
hemochromatosis, screening adult family members of patients with HFE mutations
and resolving ambiguities concerning iron overload.
Recognizing genetic hemochromatosis. J La
State Med Soc. 1994 Dec This article reviews the
disease process hemochromatosis, which is now recognized as one of the most
common genetic disorders. It is imperative that physicians learn to
recognize early signs and symptoms of hemochromatosis so that treated patients
can expect a normal life span with minimal medical intervention.
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.
- Relating Genomic Research to Patient Care
JAMA 11/2000 Educating health care professionals about the
complexities of the genetics of adult disease (in addition to congenital
illness) is an important goal, and one disease model that is useful for this
purpose involves hemochromatosis.
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.
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.
Survival and causes of death in hemochromatosis. Observations
in 163 patients.
Ann N Y Acad Sci. 1988 Life
expectancy was reduced in patients who presented with cirrhosis or diabetes
compared to patients who presented without these complications at the time of
diagnosis. Patients who could be depleted of iron during the first 18 months
of venesection therapy had a markedly better prognosis compared to those
patients who could not be depleted during this time period.
Testosterone treatment of men with idiopathic hemochromatosis.
Clin Investig 1992 Jul Patients with chronic liver disease usually
exhibit low plasma levels of testosterone with loss of libido and potency;
this is also valid in male patients suffering from idiopathic hemochromatosis
(IHC), in whom nowadays the diagnosis is made at an earlier age. Because of
the positive effects on general well-being, liver regeneration capacity, and
potency, testosterone should especially be administered to younger subjects
suffering from IHC.
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 diagnosis of hemochromatosis in the era of the gene
Ann Endocrinol (Paris). 1999 Sep [article in French]
The discovery of the hemochromatosis gene has deeply changed and
simplified the diagnosis of the disease. In a given individual, establishing the
diagnosis relies, from now on, on a simple blood sample showing the couple:
elevated transferrin saturation and homozygous C282Y mutation (= C282Y +/+).
Liver biopsy should only be performed when iron overload is massive in order to
detect cirrhosis (or bridging fibrosis), i.e. in a prognostic view.
EVALUATION OF ABNORMAL LIVER FUNCTION TESTS AND JAUNDICE
Carol Murakami, M.D.,
Richard Willson, M.D., and Susan Stover-Dalton, M.D. This discussion on the
evaluation of abnormal liver function tests relates to the overall
prevention of end stage liver disease and the consequent need for liver
The haemochromatosis gene: a co-factor for chronic liver diseases?
J Gastroenterol Hepatol. 1999 Aug
George DK, Powell LW, Losowsky MS Iron loading of mild to
moderate degree due to heterozygosity or homozygosity for the haemochromatosis
genetic mutations acts as a significant hepatotoxin aggravating hepatic damage
from other causes of liver disease.
Liver: Introduction and Index
The liver is the largest gland in the body
and performs an astonishingly large number of tasks that impact all body
systems. One consequence of this complexity is that hepatic disease has
widespread effects on virtually all other organ systems.
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
on Liver Disease Conference Report 35th Annual Meeting of the
European Association for the Study of the Liver April 30 - May 3, 2000
Rotterdam, The Netherlands Medscape
Gastroenterology What's New for the Treatment of Esophageal
Varices in Patients With Cirrhosis?
Utility of hepatic iron index in American patients with hereditary
hemochromatosis: a multicenter study.
Gastroenterology. 1997 Oct Kowdley
KV, Trainer TD, Saltzman JR, Pedrosa M, Krawitt EL, Knox TA, Susskind K, Pratt
D, Bonkovsky HL, Grace ND, Kaplan MM. A "threshold" hepatic iron
concentration of 71 mumol/g can almost always distinguish patients with HHC
from patients with other liver diseases and may be a useful adjunct to the
hepatic iron index in the diagnosis of HHC in the diverse U.S. population.
Are the Major Causes of Cirrhosis? Liver injury
that results in cirrhosis also may be caused by a number of inherited diseases
such as cystic fibrosis, alfa-1 antitrypsin deficiency, hemochromatosis,
Wilson's disease, galactosemia, and glycogen storage diseases.
new in hemochromatosis. Curr Opin Hematol 2001 Mar The high
correlation of HFE to HHC has caused it to be considered as a candidate gene for
population-based genetic testing for diagnosis and detection of predisposition
Zellweger Syndrome Information Page
National Institute of Neurological Disorders and Stroke The most
common features of Zellweger syndrome include an enlarged liver, high levels of
iron and copper in the blood, and vision disturbances.
Click on these icons/links for access to
sites which discuss HH, cirrhosis, liver biopsy, etc:
to the "Munnsters" main Hemochromatosis page