Porphyria

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Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.

Porphyrias affect the skin or the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest or abdomen, vomiting, and diarrhea or constipation. During an attack, symptoms can include muscle numbness, tingling, paralysis, cramping, and personality or mental changes. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress and sun exposure. Attacks develop over hours or days. They can last for days or weeks.

Porphyria can be hard to diagnose. It requires blood, urine and stool tests. Each type has a different treatment. It usually involves medicine, treatment with heme or drawing blood.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Provided by: NIH - National Institute of Health

Links shared publicly online about this topic

Relation of porphyria to atrial fibrillation.

beckerinfo.net — “Relation of porphyria to atrial fibrillation.View full resource at beckerinfo.net

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Most Recently Shared on July 26, 2009 at 9:59 pm By:

stopafib StopAfib.org Health Executive

Interesting results... RT @Spence29: Relation of porphyria to atrial fibrillation. http://bit.ly/q1hTm

3 years ago...

Variegate Porphyria: eMedicine Dermatology

emedicine.medscape.com — “Overview: Variegate porphyria (VP) is an inherited disorder of porphyrin-heme metabolism arising from mutations of the gene encoding the enzyme protoporphyrinogen oxidase.1, 2, 3, 4 Manifestations of variegate porphyria in any given individual may include cutaneous ...View full resource at emedicine.medscape.com

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Most Recently Shared on April 21, 2010 at 12:51 am By:

J_Bohlen Julie Bohlen Active Health Library and Health Executive

Variegate porphyria is an inherited disorder characterized by photosensitivity, systemic symptoms, or both. Learn more. http://bit.ly/9oXldZ

2 years ago...

Porphyria Cutanea Tarda: eMedicine Dermatology

emedicine.medscape.com — “Overview: Porphyria cutanea tarda (PCT) is a term encompassing a group of disorders in which activity of the heme synthetic enzyme uroporphyrinogen decarboxylase (UROD) is deficient.1 Porphyria cutanea tarda includes familial types with UROD gene mutations ...View full resource at emedicine.medscape.com

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Most Recently Shared on April 21, 2010 at 12:45 am By:

J_Bohlen Julie Bohlen Active Health Library and Health Executive

Porphyria cutanea tarda is a genetic condition in which heme is not made properly resulting in sunlight sensitivity. http://bit.ly/cx24cT

2 years ago...

Congenital Erythropoietic Porphyria: eMedicine Dermatology

emedicine.medscape.com — “Overview: Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. The inheritance of 2 mutant alleles for the gene encoding the enzyme uroporphyrinogen III synthase leads to ...View full resource at emedicine.medscape.com

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Most Recently Shared on April 21, 2010 at 12:06 am By:

Health_SS Susan S Health Advocate

Congenital erythropoietic protoporphyria is a genetic disorder involving a deficiency of the enzyme ferrochelatase. http://bit.ly/91GRwn

2 years ago...

Clinical Cases and Images: CasesBlog: Porphyrias

casesblog.blogspot.com — “Health News Updated Daily by Assistant Professor at University of Chicago, Internist and AllergistView full resource at casesblog.blogspot.com

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Most Recently Shared on August 15, 2011 at 4:36 pm By:

IHSonline Richard L.Trader,Sr Therapist, Health Executive, and Physician Assistant

Porphyrias: From a Lancet review:Hereditary porphyrias represent a group of 8 metabolic disorders of the haem bi... http://t.co/drsZUan

6 months ago...

Clinical Cases and Images: CasesBlog: Porphyrias

casesblog.blogspot.com — “Health News Updated Daily by Assistant Professor at University of Chicago, Internist and AllergistView full resource at casesblog.blogspot.com

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Most Recently Shared on August 15, 2011 at 8:50 pm By:

Clinical Cases and Images: CasesBlog: Porphyrias

casesblog.blogspot.com — “Health News Updated Daily by Assistant Professor at University of Chicago, Internist and AllergistView full resource at casesblog.blogspot.com

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Most Recently Shared on August 15, 2011 at 7:19 pm By:

DrShock Walter van den Broek Psychiatrist, Physician, and Doctor

Clinical Cases and Images: Porphyrias - http://t.co/Qe3bJlJ a very old friend not to be forgotten

6 months ago...

Gastroenterology News & Articles - MDLinx - Porphyria, Variegate on #MDlinx

mdlinx.com — “Gastroenterology News & Articles - MDLinx - Porphyria, Variegate on #MDlinxView full resource at mdlinx.com

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Most Recently Shared on September 8, 2010 at 10:20 am By:

MDLinx Sandeep Pulim MD Health Communicator, Physician, and Doctor

Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication: Acta Dermato-Venereologica http://bit.ly/alZjNv #GI

1 year ago...

Family Med Medical News about Porphyria Cutanea Tarda

mdlinx.com — “Lesions on the hands, high aminotransferase levelsView full resource at mdlinx.com

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Most Recently Shared on January 5, 2010 at 11:57 am By:

MDLinx Sandeep Pulim MD Health Communicator, Physician, and Doctor

Med: Lesions on the hands, high aminotransferase levels: Cleveland Clinic Journal of Medicine http://url4.eu/13fPR

2 years ago...

Pseudoporphyria: eMedicine Dermatology

emedicine.medscape.com — “Overview: Porphyrias are metabolic disorders of heme synthesis. Partial enzymic deficiencies result in excessive accumulation and excretion of 5-aminolevulinic acid, porphobilinogen, and/or porphyrins. Porphyria cutanea tarda (PCT) is the most common of the porphyrias in North America ...View full resource at emedicine.medscape.com

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Most Recently Shared on April 18, 2010 at 5:40 pm By:

SusanS_Health Susan Scroggins Health Advocate and Active Health Library

Skin blisters which form and burst after minor trauma or sun exposure may lead to a diagnosis of pseudoporphyria. http://bit.ly/cMEIme

2 years ago...

Bullous Disease of Dialysis: eMedicine Dermatology

emedicine.medscape.com — “Overview: Bullous dermatosis of dialysis is a syndrome of cutaneous fragility and blistering.1, 2 The skin lesions clinically and histologically resemble those of porphyria cutanea tarda. Lesions predominantly occur in sun-exposed skin, most often on the ...View full resource at emedicine.medscape.com

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Most Recently Shared on April 18, 2010 at 5:32 pm By:

SusanS_Health Susan Scroggins Health Advocate and Active Health Library

Skin blistering after dialysis, particularly on the backs of the hands, may be deemed bullous disease of dialysis. http://bit.ly/ci7yzT

2 years ago...

Hematology - Thomas J. Reid III MD PhD FACP

sites.google.com — “Web page for Dr. Thomas J. Reid - This web site was developed to provide information for my patients and to relate my thoughts and opinions on medical issues affecting all Americans. TOPICS: Hematology, Medical Oncology, Internal Medicine, Health-Care Reform, RationingView full resource at sites.google.com

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Most Recently Shared on July 26, 2010 at 7:13 pm By:

Gastroenterology Article | Carcinoma, Hepatocellular

mdlinx.com — “Screening for hepatocellular carcinoma in acute intermittent porphyriaView full resource at mdlinx.com

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Most Recently Shared on April 23, 2011 at 4:15 am By:

MDLinx Sandeep Pulim MD Health Communicator, Physician, and Doctor

Screening for hepatocellular carcinoma in acute intermittent porphyria: Journal of Internal Medicine http://bit.ly/fQyXan #GI

10 months ago...

EU grants 3.3 million to AMP for gene therapy development against AIP

news-medical.net — “Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, announced today that the European Union has finalized a EUR 3.3 million grant to the AIPGENE consortium, of which AMT is a member, for the development of a gene therapy product for Acute Intermittent Porphyria.View full resource at news-medical.net

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Most Recently Shared on January 31, 2011 at 7:27 am By:

Parkinsons_News News-Medical.Net Health News

Parkinson's Disease: EU grants 3.3 million to AMP for gene therapy development against AIP: Amsterdam Molecular ... http://bit.ly/eXMKop

1 year ago...

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