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.

• ABC of diseases of liver, pancreas, and biliary system Other causes of parenchymal liver disease  BMJ 2001;322:290-292 ( 3 February ) Haemochromatosis is the commonest inherited liver disease in the United Kingdom. It affects about 1 in 200 of the population and is 10 times more common than cystic fibrosis.

• 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.

• Clinical Features of Genetic Hemochromatosis in Women Compared with Men 
  Abstracts - August 19, 1997 ANNALS OF INTERNAL MEDICINE  Recognizing the nonspecific nature of presenting symptoms in women is essential for early diagnosis and treatment.
  
• Clinical spectrum and management of haemochromatosis 
  Baillieres Clin Haematol 1994 Dec Further strategies have to evaluate the design of screening programmes in order to diagnose more patients in the precirrhotic and asymptomatic stage.
  
• Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease] Schweiz Rundsch Med Prax 1996 Nov [article in German]

• 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.

• Cutaneous manifestations of idiopathic hermochromatosis.Study of 100 cases.  In 50 cases with treated and nontreated groups, histological siderosis and clinical skin pigmentation were found to decrease postphlebotomy whereas melanosis, histologically, did not. Arch Dermatol 1977 Feb

• 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] 

• 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.
  
• 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

• A mouse model of familial porphyria cutanea tarda. Proc Natl Acad Sci U S A. 2001 Jan

• Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda? Orv Hetil 2000 Sep 10 HCV infection and HFE C282Y mutations may probably be independent predisposing factors for development of PCT in Hungarian patients.

• C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients.
  Virchows Arch. 2001 Jul CONCLUSIONS: The high frequency of homo- and heterozygosity for the C282Y and H63D alleles strongly suggests that these mutations are important predisposing factors for PCT in German patients.
  
• Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda Homozygosity for the C282Y hemochromatosis mutation was associated with an earlier onset of skin lesions in both familial and sporadic porphyria cutanea tarda. J Invest Dermatol 2000 Nov

• 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 genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. Blood. 2000 Mar 1 Mutations at the HFE locus, HCV infection, excess alcohol intake, and exposure to estrogens all proved to be risk factors for the development of PCT. HFE mutations and HCV infection imparted the greatest relative risk, and the presence of multiple risk factors was more frequent than the presence of single risk factors.
  
• 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.  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.

• Hepatitis C virus infection in patients with idiopathic hemochromatosis (IH) and porphyria cutanea tarda (PCT).   Arch Virol Suppl. 1992 These results suggest a possible connection between HCV and iron overload.

• HFE mutations and transferrin receptor polymorphism analysis in porphyria cutanea tarda: a prospective study of 36 cases from southern France.  Br J Dermatol. 2001 Mar CONCLUSIONS: This study confirms the high frequency of HFE mutations in patients with PCT and supports the hypothesis that HFE gene abnormalities might play a significant part in the PCT pathomechanism, probably through iron overload;

• High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda.  Hepatology. 1998 Jan Our data do not confirm an association of PCT with the Cys282Tyr HFE mutation, strongly associated with hemochromatosis in Northern European countries. A second mutation of HFE, His63Asp, however, had a significantly increased frequency as it was present in half of the patients.

• Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet. 1997 Feb 1 Inheritance of one or more haemochromatosis genes is an important susceptibility factor for sporadic porphyria cutanea tarda.
  
• Iron-induced liver injury
  Clin Liver Dis 2000 May:  Iron, either in the form of heme or non-heme compounds, is essential to life, but it can also pose serious health risks. The liver is a principal target for iron toxicity.

• Iron overload in Porphyria cutanea tarda Haematologica 1999 HFE mutations related to PCT? [a pdf file]

• 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.

• Porphyria cutanea tarda  Don't forget to look at the urine   Michael W. Rich, MD VOL 105 / NO 4 / APRIL 1999 / POSTGRADUATE MEDICINE

• Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America.
  Hepatology. 1998 Jun All PCT patients should be tested for HCV infection and for HFE gene mutations.

• Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol. 2000 Dec PCT patients exhibited evidence of iron overload, a high frequency of HCV, and an association with C282Y mutation. These data further support the notion that both acquired and inherited factors contribute to the occurrence of PCT, and indicate that screening for C282Y may be justified in PCT patients.
   
• Role of the hemochromatosis gene in prophyria cutanea tarda. Prospective study of 56 cases
  Ann Dermatol Venereol. 2001 May  [Article in French] Compound heterozygous and to a lesser degree H63D homozygous status explained the highest iron overload in our patients. This favors clinical expression of porphyria cutanea tarda. This iron overload due to HFE mutations is a new triggering factor of porphyria cutanea tarda independent of classical triggering factors: mutation of the erythrocytic uroporpyrinogen decarbocylase gene, alcohol abuse, hepatitis C, and drugs.
  
• Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda 
  Frequency of C282Y gene mutation in our patients with porphyria cutanea tarda appears similar to that in other Middle European countries. Cas Lek Cesk 2000 Nov 22

• The haemochromatosis gene: a global perspective and implications for the Asia-Pacific region.
  J Gastroenterol Hepatol. 1999 Sep; Epidemiological studies have shown that this gene is more widespread than its phenotypic expression would suggest and that the heterozygous state may be implicated in the expression of other diseases of the liver such as porphyria cutanea tarda, hepatitis C virus infection and non-alcoholic steatohepatitis.

• 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.

• Uroporphyria in Hfe mutant mice given 5-aminolevulinate: a new model of Fe-mediated porphyria cutanea tarda. Hepatology. 2001 Feb Recently, it has been shown that many PCT patients carry mutations in the HFE gene, which is responsible for hereditary hemochromatosis.

   

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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.

• Too much iron can hurt joints, body organs
  The Albuquerque Tribune. By John Crowe The Associated Press 1/11/00

Back to the "Munnsters" main Hemochromatosis page