Arthritis, CPPD, pseudogout, joint pain,
joint replacements, etc.
Joint pain & fatigue are typically the
first presenting symptoms in someone with IO. Unfortunately, they are also
the symptoms which are most often ignored
or attributed to as being age related or due to the stressors of life & work.
Click on the title to view articles/abstracts/sites referring to joint
A fatal case of Vibrio vulnificus presenting as septic arthritis.
Arch Intern Med 2001 Nov 26 Although V vulnificus
infection is uncommon, it is frequently fatal and is usually attributed to
ingestion of raw shellfish or traumatic exposure to a marine environment;
patients are also often found to have a hepatic disorder (cirrhosis, alcohol
abuse, or hemochromatosis) or an immunocompromised health status, and most
commonly present with septicemia or a wound infection.
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 skin.
in hemochromatosis J Rheumatol 1993 Mar We reviewed the
clinical and radiographic features of arthropathy in 25 subjects with
in hereditary hemochromatosis
Curr Opin Rheumatol 2001 Jan; Arthropathy
is one of the leading clinical manifestations of hereditary hemochromatosis (HH).
Although cirrhosis of the liver is crucial for mortality in patients with HH,
arthropathy has the greatest impact on the quality of life
may also be called: familial articular calcium gout, calcium pyrophospate
arthropathy, calcium pyrophosphate dihydrate deposition disease, CPPDD
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).
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]
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
A case of Hereditary Hemochromatosis with dilated cardiomyopathy,
micronodular cirrhosis, history of chronic alcoholism from Department of
Pathology, University of Pittsburgh School of Medicine.
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]
- 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.
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.
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.
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 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.
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
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 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.
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
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.
The clinical and radiologic presentations of the arthropathy of
hemochromatosis have been extensively reviewed. Screening for the disease
appears important, because it is the only way to prevent progressive worsening
of organ involvement and arthropathy in particular. Curr Opin Rheumatol 1994
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.
Osteoporotic fractures: an unusual presentation of haemochromatosis.
Bone. 1992; The association of
haemochromatosis and osteoporosis is well established, but it is unclear
whether this is due to iron overload, hypogonadism, liver disease, or diabetes
mellitus. We describe a young eugonadal male patient with osteoporotic
fractures as a presenting feature of haemochromatosis, suggesting that factors
other than hypogonadism contribute to osteoporosis.
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.
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
Arthropathy in the Knees of Elderly Persons
Arch Intern Med, Volume 156(21).November 25, 1996 From the Division of
Rheumatology, Department of Medicine, Medical College of Georgia,
Augusta. Magnesium and iron influence crystal behavior, correlating
with the known relationship of hypomagnesemia and hemochromatosis to PA, while
disorders of calcium metabolism are also accompanied by PA.
manifestations of haemochromatosis
Baillieres Clin Rheumatol 1991 Aug The characteristic histological changes are:
abnormal amounts of iron deposits, little or no signs of synovial inflammation
and CPPD deposition.
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.
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.
of HFE Mutation Analysis for Hereditary Hemochromatosis:
Need for Physician Education in the Translation of Basic Science to Clinical
Practice Manish 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
to the "Munnsters" main Hemochromatosis page