Porphyria Summary 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. NIH: National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Diabetes and Digestive and Kidney Diseases Specifics 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 Find an Expert American Porphyria Foundation American Porphyria Foundation National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Diabetes and Digestive and Kidney Diseases Clinical Trials ClinicalTrials.gov: Porphyrias National Institutes of Health Array Delta-ALA urine test PBG urine test Porphyria Porphyrins – blood test Porphyrins – urine Living With Diet and Nutrition in Porphyria American Porphyria Foundation Diagnosis and Tests First-Line Tests American Porphyria Foundation Porphyrin Tests American Association for Clinical Chemistry Porphyrins and Porphyria Diagnosis American Porphyria Foundation Genetics Genetics Home Reference: dyserythropoietic anemia and thrombocytopenia National Library of Medicine Genetics Home Reference: porphyria National Library of Medicine Learning about Porphyria National Human Genome Research Institute 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 Start Here Porphyria Mayo Foundation for Medical Education and Research Porphyria National Institute of Diabetes and Digestive and Kidney Diseases Patient Handouts Porphyria National Institute of Diabetes and Digestive and Kidney Diseases Treatments and Therapies Porphyria Treatment Options American Porphyria Foundation Journal Articles Porphyria Encyclopedia TBG – blood test
