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Children with Erythropoietic Protoporphyria. Canadian Porphyria Foundation National Newsletter. p. 4, 8. Summer 2006.

This article, from a newsletter for people with porphyria, discusses children with erythropoietic protoporphyria (EPP), one of the bone-marrow-based porphyrias. The primary symptom of EPP is sun-sensitivity. EPP usually manifests itself in childhood, and can be diagnosed by a fractionated red-cell porphyrin blood test or a free erythrocyte protoporphyrin blood test, and by finding the presence of elevated protoporphyrin levels in the red cells tested. Treatment for these children is the same as for adults with EPP: Protect the skin from excessive skin exposure with protective clothes and opaque sunscreens. The oral drug Lumitene can, in many patients, prevent the chemical reactions caused by the excess protoporphyrins which lead to the symptoms of EPP. The author then details some strategies for parents to use when helping to protect their children's skin from sunlight, including the use of sun-protective clothing, how to protect the hands and feet, and coping with outdoor family activities.

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Hereditary Hemochromatosis and Porphyria. Canadian Porphyria Foundation National Newsletter. p. 3, 6. Summer 2006.

This article, from a newsletter for people with porphyria, considers the connection between hereditary hemochromatosis and porphyria. Hereditary hemochromatosis is a disorder that results in the deposition of iron in the cells of the body, causing tissue damage and dysfunction in the organ where it is deposited. The author reviews the pathology, symptoms, genetics, diagnosis, and treatment of hereditary hemochromatosis. The author then reminds readers that porphyria cutanea tarda (PCT) is caused by reduced activity of uroporphyrinogen decarboxylase (URO-D) in the liver, which then leads to the accumulation of uroporphyrins and a variety of skin manifestations. Acquired PCT, also called sporadic PCT, is associated with alcohol abuse, estrogens, liver disease, and iron overload. Iron often triggers the clinical manifestations of PCT by inactivating URO-D. Sixty percent or more of people with PCT have increased iron stores; many of these have hereditary hemochromatosis. A brief glossary of terms concludes the article.

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Neurovisceral Porphyrias: What a Hematologist Needs to Know. IN: Hematology 2005. Washington, DC: American Society of Hematology. 2005. pp. 24-30.

This article reviews the neurovisceral porphyrias, disorders characterized by a deficiency of a specific enzyme involved in heme-the iron-containing part of the hemoglobin molecule—synthesis. The author reviews four inherited disorders, all classified as acute or inducible hepatic porphyrias. These disorders usually remain asymptomatic for most of the lifespan of the individuals who inherit the specific enzyme deficiencies, but may cause life-threatening attacks of neurovisceral symptoms. The four disorders are: ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type 1. The author encourages clinicians to maintain a health index of suspicion for these conditions, particularly in patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment for all but mild attacks of the acute porphyrias is intravenous hemin therapy. 2 figures. 4 tables. 16 references.

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Lab Investigation of the Porphyrias. Canadian Porphyria Foundation National Newsletter. p. 2, 6. Winter 2004.

This article, from a newsletter for people with porphyria, discusses laboratory tests used to investigate the porphyrias. The term porphyria refers to a group of conditions resulting from defects in heme biosynthesis. Heme is the iron-containing ring structure in hemoglobin to which oxygen binds. Hemoglobin is found in the red blood cells, resulting in a means to transport oxygen to various organs and cells of the body. The author discusses the differences between acute and non-acute porphyrias, the symptoms of each, the sample types that are used in the laboratory, and how they are each analyzed. The acute porphyrias are characterized by the accumulation of the porphyrin precursors, PBG and ALA, that are almost exclusively measured in the urine. Urine collected over a 24-hour period is the best indication of overall excretion. Specimens must be preserved by refrigeration. Some laboratory physicians advocate the measurement of porphyrins in blood, as an aid to diagnosis. For the diagnosis of erythropoietic protoporphyria, blood is used. Stool specimens are of use not for diagnosis, but to distinguish among the types of porphyrias, particularly the coproporphyrias. One table summarizes the classification of the porphyrias, their symptoms, and the use of blood, urine, or stool testing. 1 table.

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Acute Intermittent Porphyria. Manitoba, Canada: Canadian Porphyria Foundation. 2003. 4 p.

Porphyria is a condition in which excessive amounts of substances known as porphyrins form in the body. Porphyria is not a single disease but is a group of at least seven disorders. This fact sheet describes acute intermittent porphyria (AIP), noting that the severity of this condition varies widely and the majority of people who have AIP may be unaware of this fact. The fact sheet first describes the metabolic derangements of all porphyrias. In AIP, abdominal pain, nausea, vomiting, and loss of appetite are the most frequent symptoms and are often accompanied by constipation and a fast pulse rate. More severe symptoms are usually prevented by appropriate treatment. The fact sheet describes the usual symptoms of AIP, diagnostic approaches, and concerns about passing the condition along to offspring. 2 figures.

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Erythropoietic Protoporphyria. Manitoba, Canada: Canadian Porphyria Foundation. 2003. 4 p.

Porphyria is a condition in which excessive amounts of substances known as porphyrins form in the body. Porphyria is not a single disease but is a group of at least seven disorders. This fact sheet describes erythropoietic protoporphyria, noting that the severity of this condition varies widely and the majority of people who have inherited EP may be unaware of this fact. The fact sheet first describes the metabolic derangements of all porphyrias. EP usually presents as a disorder of the skin which is abnormally sensitive to sunlight. The fact sheet describes the usual symptoms of erythropoietic protoporphyria, diagnostic approaches, and concerns about passing the condition along to offspring. 2 figures.

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Guide to Porphyria. Manitoba, Canada: Canadian Porphyria Foundation. 2003. 20 p.

Porphyria is a condition in which excessive amounts of substances known as porphyrins form in the body. Porphyria is not a single disease but is a group of at least seven disorders. This booklet is a basic introduction to porphyria. The author presents the general concepts of this disease and then offers a more detailed description of each clinical entity. Topics include the pathology and metabolic derangements of porphyria, the causes of porphyria, the different types of porphyria, the impact of porphyria on activities of daily life, the symptoms of these conditions, diagnostic considerations, treatment options, concerns about flare-ups during or after surgery, pregnancy, and genetics. The specific types of porphyria discussed are: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), and rare forms of porphyria. The booklet concludes with a chart of the heme biosynthetic pathway and a list of safe and unsafe drugs in the more common types of porphyria. 2 figures.

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Hereditary Coproporphyria. Manitoba, Canada: Canadian Porphyria Foundation. 2003. 4 p.

Porphyria is a condition in which excessive amounts of substances known as porphyrins form in the body. Porphyria is not a single disease but is a group of at least seven disorders. This fact sheet describes hereditary coproporphyria, a condition that manifests either as acute attacks or as skin problems. In the acute attacks, abdominal pain, nausea, vomiting, and loss of appetite are the most frequent symptoms and are often accompanied by constipation and a fast pulse rate. The fact sheet describes the different stages of hereditary coproporphyria, diagnostic approaches, how to prevent acute attacks of porphyria, skin care, treatment options, and concerns about passing the condition along to offspring. 2 figures.

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Metabolic Diseases of the Liver. In: Textbook of Gastroenterology. 4th ed. [2-volume set]. Hagerstown, MD: Lippincott Williams and Wilkins. 2003. p. 2397-2415.

Hepatic (liver) involvement is a common feature in inborn errors of metabolism that are manifest in childhood and in adult life. In many of the genetic disorders affecting the liver, an environmental exposure to the specific substrate or toxin (galactose, fructose, copper, protein load) are important modifiers of the onset and severity of the disease phenotype. This chapter on metabolic diseases of the liver is from a comprehensive gastroenterology textbook that provides an encyclopedic discussion of virtually all the disease states encountered in a gastroenterology practice. In this chapter, the author discusses Wilson's disease, Reye's syndrome, alpha-1 antitrypsin deficiency, porphyria, and metabolic diseases of the neonate and of childhood. For each section, the author covers presentation, liver histology, genetics, pathogenesis and biochemistry, diagnostic criteria and tests, and treatment strategies. The chapter is illustrated with black-and-white graphs and drawings. 4 tables. 172 references.

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Porphyria. [Porphyrie]. Manitoba, Canada: Canadian Porphyria Foundation. 2003. 4 p.

Porphyria is a condition in which excessive amounts of substances known as porphyrins form in the body. Porphyria is not a single disease but is a group of at least seven disorders. This brochure offers a quick introduction to porphyria. The author answers common questions about this condition, covering the symptoms, the causes, treatment options, the prognosis, sensitivity to sunlight, genetics, and risk factors for surgery and pregnancy in people with porphyria. The brochure also lists drugs that are potentially dangerous in patients with porphyria. The contact information for and advisory board of the Canadian Porphyria Foundation are provided (www.cpf-inc.ca). The reverse side of the brochure provides the same information in French.

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Iron Overload States. In: Sherlock, S.; Dooley, J. Diseases of the Liver and Biliary System. Malden, MA: Blackwell Science, Inc. 2002. p.399-411.

The causes of iron overload can be broadly separated into those with a clear genetic mechanism, those associated with another pathology, and a small group of intermediate conditions where there appears to be an interplay between genetic and acquired mechanisms. Iron overload as a result of liver or hematological (blood) disease is not uncommon and genotyping now allows these to be clearly separated from genetic hemochromatosis. This chapter on iron overload states is from a textbook that presents a comprehensive and up-to-date account of diseases of the liver and biliary system. The chapter covers normal iron metabolism, iron overload and the resulting liver damage, genetic hemochromatosis, and other iron storage diseases, including non-HFE-related inherited iron overload, dysmetabolic syndrome, erythropoietic siderosis, late stage cirrhosis, chronic viral hepatitis, non-alcoholic fatty liver disease, neonatal hemochromatosis, African iron overload (Bantu siderosis), porphyria cutanea tarda, hemodialysis, acaeruloplasminemia, and transferrin deficiency. 6 figures. 1 table. 99 references.

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Course and Outcome of Hepatitis C. Hepatology. 36(5 Supplemental 1): S21-S29. November 2002.

This article on the course and outcome of hepatitis C is from a special supplemental issue of Hepatology journal on the National Institutes of Health (NIH) Consensus Development Conference (June 2002) on the management of hepatitis C. The hepatitis C virus (HCV) is a small enveloped RNA virus belonging to the family flaviridae and genus hepacivirus. The HCV replicates at a high rate in the liver and has marked sequence heterogeneity. There are 6 genotypes and more than 90 subtypes of HCV, the most common in the United States being 1a and 1b (approximately 75 percent), 2a and 2b (approximately 15 percent), and type 3 (approximately 7 percent). Acute hepatitis C is marked by appearance of HCV RNA in serum within 1 to 2 weeks of exposure followed by serum alanine aminotransferase (ALT) elevations, and then symptoms and jaundice. Antibody to HCV (anti-HCV) tends to arise late. However, 55 percent to 85 percent of patients do not clear the virus, but develop chronic hepatitis C. Chronic hepatitis C is often asymptomatic, but is usually associated with persistent or fluctuating elevations in ALT levels. The chronic sequelae of hepatitis C include progressive hepatic fibrosis, cirrhosis (liver scarring), and hepatocellular carcinoma (HCC, liver cancer). Extra-hepatic (outside the liver) manifestations include sicca syndrome, cryoglobulinemia, glomerulonephritis, and porphyria cutanea tarda. The author concludes that knowledge of the course and outcome of hepatitis C is important in developing approaches to management and therapy. 5 figures. 80 references.

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Extrahepatic Manifestations of Hepatitis C Among United States Male Veterans. Hepatology. 36(6): 1439-1445. December 2002.

Hepatitis C virus (HCV) has been associated with several extrahepatic conditions. To date, most studies assessing these associations involved small numbers of patients and lacked a control group. Using the computerized databases of the Department of Veterans Affairs, the authors of this article carried out a hospital-based case-control study that examined all cases of HCV-infected patients hospitalized during 1992 to 1999 (n = 34,204) and randomly chosen control subjects without HCV (n = 136,816), matched with cases on the year of admission. The inpatient and outpatient files were searched for several disorders involving the skin (porphyria cutanea tarda, vitiligo, and lichen planus); the kidney (membranous glomerulonephritis [GN] and membranoproliferative glomerulonephritis); the blood (cryoglobulin, Hodgkin's and non-Hodgkin's lymphoma [NHL]); the endocrine system (diabetes, thyroiditis); and rheumatologic (Sjogren's's syndrome). The association between HCV and these disorders was examined in analyses that controlled for age, gender, ethnicity, and period of military service. Patients in the case group were younger in age (45 versus 57 years), were more frequently nonwhite (39.6 percent versus 26.3 percent), and were more frequently male (98.1 percent versus 97.0 percent). A significantly greater proportion of HCV-infected patients had porphyria cutanea tarda (PCT), vitiligo, lichen planus, and cryoglobulinemia. There was a greater prevalence of membranoproliferative GN among patients with HCV but not membranous GN. There was no significant difference in the prevalence of thyroiditis, Sjogren's syndrome, or Hodgkin's or NHL. However, NHL became significant after age adjustment. Diabetes was more prevalent in controls than cases, but no statistically significant association was found after adjustment for age. The authors conclude that patients presenting with PCT, lichen planus, vitiligo, cryoglobulinemia, membranoproliferative GN , and NHL should be tested for HCV infection. 3 tables. 50 references.

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Nutritional and Metabolic Liver Diseases. In: Sherlock, S.; Dooley, J. Diseases of the Liver and Biliary System. Malden, MA: Blackwell Science, Inc. 2002. p.423-452.

This chapter on nutritional and metabolic liver diseases is from a textbook that presents a comprehensive and up-to-date account of diseases of the liver and biliary system. The chapter covers malnutrition; fatty liver, including diagnosis and classification; non-alcoholic fatty liver disease, including hepatic steatosis, steatonecrosis, the effects of the jejuno-ileal bypass, parenteral nutrition, and vitamins; carbohydrate metabolism in liver disease, including hypoglycemia and hyperglycemia; the liver in diabetes mellitus, including insulin and the liver, hepatic histology, clinical features, and liver function tests; hepatobiliary disease and diabetes, including the glucose intolerance of cirrhosis and the treatment of diabetes in patients with cirrhosis; glycogen storage disease (types I through VI) and hepatic glycogen synthetase deficiency; hereditary fructose intolerance; glutaric aciduria type II, galactosemia; mucopolysaccharidoses; familial hypercholesterolemia; amyloidosis; alpha1-antitrypsin deficiency; hereditary tyrosinemia; cystic fibrosis; liver and thyroid, including thyrotoxicosis, myxoedema, and changes with hepatocellular disease; liver and adrenal; liver and growth hormone; hepatic porphyrias, including acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, porphyria cutanea tarda, erythropoietic protoporphyria, hepato-erythropoietic porphyria, and secondary coproporphyrias; hereditary hemorrhagic teleangiectasia; and dystrophic myotonica. Each section includes its own list of references for further reading. 19 figures. 6 tables. 184 references.

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Iron Overload. In: Okuda, K., ed.,et al. Hepatobiliary Diseases: Pathophysiology and Imaging. Malden, MA: Blackwell Science, Inc. 2001. p. 179-190.

The term 'hemochromatosis' is currently used to refer to a group of disorders in which a progressive increase in total body iron stores results in the deposition of iron in the parenchymal (body) cells of the liver, heart, pancreas, and other organs. This chapter on iron overload is from a textbook that familiarizes the reader with various imaging modalities, the information they provide, and the merits of each, in order to facilitate the combined use of different imaging techniques in the diagnosis and management of hepatobiliary (liver and bile tract) diseases. The increase in body iron deposition results from its intestinal absorption disproportionate to the body iron stores, either alone or in combination with iron loading. The excessive iron deposition frequently results in cellular damage. The authors use the term hemochromatosis to indicate the inherited genetic form of liver deposition and the term 'iron overload' to include all disorders associated with excessive iron overload. Topics covered include iron metabolism, the pathophysiology of iron overload, genetic hemochromatosis (its diagnosis and treatment), and secondary iron overload, including that due to erythropoietic siderosis, porphyria cutanea tarda, chronic alcoholic liver disease, and African hemochromatosis. 5 figures. 4 tables. 34 references.

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Porphyrias. In: Arias, I.M., et al. Liver: Biology and Pathobiology, Fourth Edition. Philadelphia, PA: Lippincott Williams and Wilkins. 2001. p.311-329.

The porphyrias are a group of metabolic disorders that result from defects of specific enzymes of the heme (the iron-containing part of the hemoglobin molecule) synthetic pathway. Clinically, they may be characterized by a propensity to acute neurovisceral crises, photosensitive skin disease, or both. This chapter on the porphyrias is from a textbook on the pathobiology and biology of the liver. The authors discuss the chemistry and biochemistry of porphyrins and heme, heme biosynthesis, the enzymology and molecular biology of heme biosynthesis, clinical disorders associated with defects in heme biosynthesis, and the specific syndromes of porphyria. Specific syndromes covered are: 5-aminolevulinic acid dehydratase deficiency, porphobilinogen deaminase deficiency, uroporphyrinogen III cosynthetase deficiency, uroporphyrinogen decarboxylase deficiency, coproporphyrinogen oxidase deficiency, protoporphyringoen oxidase deficiency, and ferrochelatase deficiency. 1 table. 196 references.

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Just the Facts: Skin and Hair Problems on Dialysis. Madison, WI: Life Options Rehabilitation Program. 2000. [2 p.].

This fact sheet offers information for patients on dialysis about skin and hair problems that they may encounter. Many people on dialysis have skin changes, primarily an increased tendency to bruise and dry, itching, or cracking skin. The fact sheet answers common questions related to skin and hair problems. Bruising can occur if the patient's dose of blood thinner (heparin) is too high, or if the blood level of platelets (clotting cells) is too low. Some drugs, such as prednisone or coumadin, can increase bruising. Itching has many causes, including high blood levels of phosphorus, not enough dialysis, dry skin, allergy to drugs or other products used at the dialysis center. Other skin problems can indicate porphyria, which needs to be treated by a skin specialist. Hair loss can be due to malnourishment, zinc deficiency, thyroid problems, or drug reactions. The reverse side of the fact sheet offers a chart that summarizes the problems under discussion, how each can be prevented, and recommended questions to ask the health care provider about each problem. The fact sheet includes the contact information for the Life Options Rehabilitation Program (800-468-7777, lifeoptions@medmed.com).

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