12/05/2013 11:00 AM EST
Source: Patient Education Institute -
Related MedlinePlus Page: Skin Conditions
Related MedlinePlus Page: Skin Conditions
A service of the U.S. National Library of Medicine
National Institutes of Health
National Institutes of Health
Porphyria
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.
There are two main types of porphyrias. One affects the skin and the other affects 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, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.
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 of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
There are two main types of porphyrias. One affects the skin and the other affects 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, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go.
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 of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized.
NIH: National Institute of Diabetes and Digestive and Kidney Diseases
MEDICAL ENCYCLOPEDIA
National Institutes of Health
- The primary NIH organization for research on Porphyria is the National Institute of Diabetes and Digestive and Kidney Diseases
Start Here
- Porphyria(National Institute of Diabetes and Digestive and Kidney Diseases)
Overviews
- Porphyria(Mayo Foundation for Medical Education and Research)
-
Diagnosis/Symptoms
- First-Line Tests(American Porphyria Foundation)
- Porphyrin Tests(American Association for Clinical Chemistry)
- Porphyrins and Porphyria Diagnosis(American Porphyria Foundation)
-
Treatment
- Porphyria Treatment Options(American Porphyria Foundation)
-
Nutrition
- Diet and Nutrition in Porphyria(American Porphyria Foundation)
- Return to top
-
Specific Conditions
- Acute Intermittent Porphyria (AIP)(American Porphyria Foundation)
- Congenital Erythropoietic Porphyria (CEP)(American Porphyria Foundation)
- Erythropoietic Protoporphyria (EPP) or Protoporphyria(American Porphyria Foundation)
- Porphyria Cutanea Tarda(American Osteopathic College of Dermatology)
- Porphyria Cutanea Tarda (PCT)(American Porphyria Foundation)
- Return to top
-
Related Issues
- Glucose Effect in the Acute Porphyrias(American Porphyria Foundation)
- Porphyria Cutanea Tarda and Agent Orange(Department of Veterans Affairs)
- Weight Loss & Acute Porphyria(American Porphyria Foundation)
- Return to top
-
Clinical Trials
- ClinicalTrials.gov: Porphyrias(National Institutes of Health)
- Return to top
-
Genetics
- Genetics Home Reference: Porphyria(National Library of Medicine)
- Learning about Porphyria(National Human Genome Research Institute)
- Return to top
-
Journal Articles
References and abstracts from MEDLINE/PubMed (National Library of Medicine)- Article: Images in clinical medicine. Unblinded by the lights.
- Article: Photosensitivity in the elderly-think of late-onset protoporphyria.
- Article: Recurrent porphyria attacks in a Chinese patient with a heterozygous...
- Article: Report of a novel Indian case of congenital erythropoietic porphyria...
- Porphyria -- see more articles
- Return to top
-
Directories
- US Porphyria Labs(American Porphyria Foundation)
- Return to top
-
Organizations
-
Newsletters/Print Publications
- APF Newsletter(American Porphyria Foundation)
- Return to top
-
Patient Handouts
- Porphyria
- Porphyria
- Also available in Spanish
- Porphyrins - blood
- Also available in Spanish
- Porphyrins - urine
- Also available in Spanish
No hay comentarios:
Publicar un comentario