Skin changes, rashes, hair loss, etc. including PCT [links
for PCT at the bottom of the page.]
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
skin.
-
Cutaneous
manifestations of hemochromatosis Barton & Edwards: 2000; (book; 600
pages)
Part of the chapter: by J. Chevrant-Breton p. 292-295 Other cutaneous
symptoms of hemochromatosis. In addition to hyperpigmentation, other
cutaneous manifestations of hemochromatosis and iron overload have been
described, primarily in a single report.
-
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
the conjunctiva.
-
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]
- 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.
-
Dr. Rose's
Peripheral Brain--HEMOCHROMATOSIS
-
Effects of
Iron Overload Harvard University website 2-1999
-
Epidemiology,
clinical spectrum and prognosis of hemochromatosis, abnormality
in liver function tests (75%), weakness and lethargy (74%), skin
hyperpigmentation (70%), diabetes mellitus (48%), arthralgia (44%), impotence
(45% in males), and ECG abnormalities (31%) were the most frequent findings and
symptoms at diagnosis. Adv Exp Med Biol 1994
-
Ferritin Physiology Overview of
the function of ferritin with a section on hemochromatosis.
-
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]
-
Haemochromatosis
may present as exercise related joint pains without arthropathy,
early
treatment improving outcome, Case reports including x-ray pictures of hips,
hands, knees. CLINICAL REVIEW Lesson of the week: Ian McCurdie and J David Perry
BMJ 1999
- Hemochromatosis can now
be appropriately defined as the presence of two hemochromatosis alleles with or
without organ injury, and with or without the presence of iron overload.
[I
have not been able to retrieve the url to the website from where this came, so
if anyone locates it, please let me know!]
-
Hemochromatosis:
A Common, Rarely Diagnosed Disease
By Vincent
J. Felitti, MD, FACP Commentary
by David Baer, MD, FACP. Hemochromatosis is the most common,
life-threatening genetic disorder in North America, yet most physicians have
never personally diagnosed a case: all see an unrecognized case in their
offices every two weeks.
- Hemochromatosis, A simple genetic trait,
Dr. Richard D. Press, Oregon Health Sciences University With the discovery of
the causative gene, the disorder stands revealed as America's single most common
mendelian disease. Unlike other genetic diseases, it is already curable. Indeed,
genetic screening makes it potentially preventable.
- Hemochromatosis at
Tummyhealth.com
Screening, Diagnosis, Treatment discussed on this website hosted by Dr. Cory
Vergilio who practices Gastroenterology and Hepatology in Somerville, New
Jersey and South Plainfield, N.J
-
Hemochromatosis:
Gastrointestinal Health
Hemochromatosis,
the most common genetic disease in the United States, results in iron
overload and, if left untreated, severe organ damage.
- Hemochromatosis: genetics helps to define a
multifactorial disease
Clin Genet, 54(1):1-9 1998 Jul University of Washington, Seattle 98105 wburke@u.washington.edu
Early detection is desirable, because periodic phlebotomy provides effective
treatment for iron overload and may prevent complications of the disorder.
-
HEMOCHROMATOSIS;
HFE Mercier et al. (1997) urged strongly
that the symbol HFE be used for the hemochromatosis gene rather than 'HLA-H' as
used by Feder et al. (1996)
-
Hemochromatosis
Mutation Detection, Cys282Tyr and His63Asp
Guide to Clinical Laboratory Testing & Interpretation of genetic
testing.
-
Hereditary Hemochromatosis and Cancer risk: More fuel to the fire?
Gastroenterology Vol. 121, No. 5, November 2001 Pg. 1253 [a pdf
file] These data suggest an involvement of iron in carcinogenesis even
in heterozygotes for HFE mutations.
-
Hereditary
Hemochromatosis
CME Activity, Release Date: 2/28/2000 Expiration Date: 2/28/2002 From the
February 2000 Issue of Physician Assistant Objectives: After
reading the article, the reader should be able to:
1. describe the pathophysiology of hereditary hemochromatosis;
2. recognize the clinical symptoms and signs of hereditary
hemochromatosis;
3. outline screening and evaluation testing; and
4. provide accurate diagnosis, management, and treatment.
-
Hereditary
hemochromatosis: diagnosis and treatment in primary care
Tenn Med 1999
Nov With early detection and treatment this can be a manageable chronic disease.
If undetected, it is potentially fatal.
-
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 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
-
Homozygosity for hemochromatosis: clinical manifestations.
Ann Intern Med. 1980 Oct; Diagnosis of asymptomatic
hemochromatosis is important because organ damage may be prevented by early
therapy.
-
Idiopathic
hemochromatosis presenting as amenorrhea and arthritis
Am J Med 1987 May A young woman with idiopathic hemochromatosis is described
-
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.
-
Iron
Overload Disorder Common and Increases Risk for Heart Attacks
Full Health Nutrition Canada ArterialHealth e-News©
October 1999 A genetic defect that causes iron overload disease is the most
common inherited disorder among whites, affecting one in 188 people of
northern European descent.
-
Iron
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.
-
Management of hemochromatosis. Hemochromatosis Management
Working Group.
Ann Intern Med. 1998 Dec 1 Barton JC, McDonnell
SM, Adams PC, Brissot P, Powell LW, Edwards CQ, Cook JD, Kowdley KV.
The complications of iron overload in hemochromatosis
can be avoided by early diagnosis and appropriate management.
-
Pathology
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
-
PULLING
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.,
-
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 hemochromatosis
Rev Port Cardiol 1994 Oct It is emphasized that hemochromatosis most
be excluded in all patients with a unexplained cardiac failure.
-
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.
-
The
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
Links specific to PCT & HH
-
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
the conjunctiva.
-
Familial porphyria cutanea tarda: characterization of seven novel
uroporphyrinogen decarboxylase mutations and frequency of common
hemochromatosis alleles. Am J Hum Genet.
1998 Nov Screening of nine f-PCT probands revealed that
44% were heterozygous or homozygous for the common hemochromatosis mutations,
which suggests that iron overload may predispose to clinical expression.
-
Genetic
hemochromatosis and the HFE gene: from molecular genetics to clinical diagnosis Z Gastroenterol 2000 Jun More than 90% of patients with genetic
hemochromatosis carry a characteristic mutation in the HFE-gene (C282Y)
Heterozygosity for the C282Y mutation appears to alter the course of other liver
diseases like porphyria cutanea tarda and nonalcoholic steatohepatitis.
-
Hemochromatosis:
A Common, Rarely Diagnosed Disease
By Vincent
J. Felitti, MD, FACP Commentary
by David Baer, MD, FACP. Hemochromatosis is the most common,
life-threatening genetic disorder in North America, yet most physicians have
never personally diagnosed a case: all see an unrecognized case in their
offices every two weeks
.
-
Hemochromatosis:
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.
-
Hemochromatosis
Gale Encyclopedia of Medicine
The symptoms of hemochromatosis include fatigue, weight loss,
weakness, shortness of breath, heart palpitations, chronic abdominal pain, and
impaired sexual performance. The patient may also show symptoms commonly
connected with heart failure, diabetes or cirrhosis of the liver. Changes in
the pigment of the skin may appear, such as grayness in certain areas, or a
tanned or yellow (jaundice) appearance.
-
Hemochromatosis. Keratin.com This paragraph on hemochgromatosis
was included after I was sent a message from a friend of someone who presented
at a dermatology clinic with hair loss. At the time the hair loss was
incorrectly diagnosed as alopecia areata. This individual died and was
subsequently found to have severe hemochromatosis.
- New
Zealand Dermatological Society Porphyria
cutanea tarda is the most common type of porphyria. Phlebotomy (removal
of blood) - up to 500 ml blood is removed every one to two weeks until the
haemoglobin and iron levels drop to low normal levels. It may take 3 - 6
months to improve. Venesection may need to be repeated after a year or more.
-
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.
links specific to HAIR LOSS
-
Hemochromatosis: Life Extension Foundation website.
Disease, Prevention & Treatment 3rd editon. Dietary & Vitamin
recommendations listed here including calcium for blocking of iron absorption.
Back
to the "Munnsters" main Hemochromatosis page