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.
National Institute of Diabetes and Digestive and Kidney Diseases
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Genetics Home Reference: Porphyria
(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=porphyria
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Porphyria(National Institute of Diabetes and Digestive and Kidney Diseases) - http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/index.htm
- About Porphyria(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/index.html
- Porphyria(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/porphyria/DS00955/DSECTION=all&METHOD=print
- Porphyria Testing(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/testing/index.html
- Diet and Nutrition in Porphyria(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/diet/index.html
- Porphyria Cutanea Tarda and Iron(Iron Disorders Institute) - http://www.irondisorders.org/Disorders/Porphyria.asp
- Porphyria Types(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/types/index.html
- Glucose Effect in the Acute Porphyrias(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/special/special02.html
- Porphyria Cutanea Tarda and Hepatitis C Virus(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/special/special01.html
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ClinicalTrials.gov: Porphyria(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Porphyria%22
- ClinicalTrials.gov: Porphyrias(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Porphyrias%22
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Genetics Home Reference: Porphyria(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=porphyria
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Learning about Porphyria(National Human Genome Research Institute) - http://www.genome.gov/19016728
- Article: Gene symbol: HMBS. Disease: Porphyria, acute intermittent. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18846661&tool=MedlinePlus
- Article: Gene symbol: FECH. Disease: Porphyria, erythropoietic. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18846614&tool=MedlinePlus
- Article: Gene symbol: FECH. Disease: Porphyria, erythropoietic. - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18846613&tool=MedlinePlus
- Porphyria -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=porphyrias[mh]+AND+english[la]+AND+humans[mh]+NOT+letter[pt]&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- US Laboratories and Specialists for Porphyria(American Porphyria Foundation) - http://www.porphyriafoundation.com/about_por/testing/testing02.html
- American Porphyria Foundation - http://www.porphyriafoundation.com/
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National Institute of Diabetes and Digestive and Kidney Diseases - http://www.niddk.nih.gov/
- APF Newsletter(American Porphyria Foundation) - http://www.porphyriafoundation.com/news/index.html
- Digestive System - http://www.nlm.nih.gov/medlineplus/digestivesystem.html
- Skin, Hair and Nails - http://www.nlm.nih.gov/medlineplus/skinhairandnails.html
The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases - http://www.niddk.nih.gov/