Important: This page is general information, not medical advice. It does not recommend or prescribe any treatment. Always consult your doctor or pharmacist before starting, stopping or changing any medicine.
About 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.
It sits within Digestive System and Skin, Hair and Nails.
The lead U.S. institute for this subject is the National Institute of Diabetes and Digestive and Kidney Diseases.
When to speak to someone. Reading about a topic cannot tell you whether it applies to you. Speak to a doctor or pharmacist if symptoms are severe, sudden, getting worse, or simply not going away — and seek emergency care immediately for chest pain, breathing difficulty, sudden weakness or confusion, or a serious allergic reaction.
Research on Porphyria
69 studies areregistered for this condition on ClinicalTrials.gov, the U.S. National Library of Medicine's public registry. A selection is below — the links go straight to the registry entry, not to a summary of ours.
What a registered study does and does not mean. Registration means a study exists and has been declared publicly. It says nothing about whether the treatment being tested works, is safe, or is available to you. Many studies find no benefit — that is what research is for. Never seek out an experimental treatment on the strength of a registry entry alone.
Research currently under way
- Study of Bitopertin in Participants With EPP or XLP (APOLLO)Disc Medicine, Inc
- HELIOS: Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Efficacy of DISC-1459 (Bitopertin) in Participants With EPP or XLPDisc Medicine, Inc
- Expanded Access Program of Bitopertin For Participants With EPP or XLPDisc Medicine, Inc
- Longitudinal Study of the PorphyriasThe American Porphyrias Expert Collaborative
- Acute Porphyria Biomarkers for Disease ActivityThe University of Texas Medical Branch, Galveston
- Observational Study of Adults and Adolescents With Erythropoietic Protoporphyria (EPP) and X-linked Porphyria (XLP)Portal Therapeutics, Inc.
Research already completed
- GATEWAY: A Phase 2a Study of PORT-77 in Adults With Erythropoietic ProtoporphyriaPortal Therapeutics, Inc.
- Pharmacokinetics of Afamelanotide in Erythropoietic Protoporphyria PatientsClinuvel Europe Limited
- Effect of Oral Cimetidine in the ProtoporphyriasAmy K. Dickey, M.D.
- INcreased Sun Exposure Without Pain In Research Participants With EPP or XLPTanabe Pharma America, Inc.
- Prevalence of Acute Hepatic PorphyriaAssociation pour la Recherche en Medecine Interne
- Study of Bitopertin to Evaluate the Safety, Tolerability, Efficacy, and PPIX Concentrations in Participants With EPPDisc Medicine, Inc
Study data from ClinicalTrials.gov, a service of the U.S. National Library of Medicine. Retrieved 2026-07-30. Registry entries are supplied by study sponsors and investigators; ClinicalTrials.gov does not verify their scientific validity. PocketsInfo is not affiliated with, and not endorsed by, the NLM or the NIH.
Where to read more
Rather than paraphrase, we point you to the primary sources. Every link below is to a government health agency, a national institute or a recognised medical body — grouped by what you are trying to find out.
Start Here
Diagnosis and Tests
- Porphyrin TestsNational Library of Medicine
- Porphyrins and Porphyria DiagnosisAmerican Porphyria Foundation
Treatments and Therapies
- Porphyria Treatment OptionsAmerican Porphyria Foundation
Living With
- Diet and Nutrition in PorphyriaAmerican Porphyria Foundation
- Weight Loss and Acute PorphyriaAmerican Porphyria Foundation
Related Issues
- Glucose Effect in Acute PorphyriasAmerican Porphyria Foundation
- Porphyria Cutanea Tarda and Agent OrangeDepartment of Veterans Affairs
Genetics
- Learning about PorphyriaNational Human Genome Research Institute
- Porphyria: MedlinePlus GeneticsNational Library of Medicine
Clinical Trials
- ClinicalTrials.gov: PorphyriasNational Institutes of Health
Medical subject headings
Clinicians and researchers index this subject under Porphyrias. These are the terms to use when searching medical literature.
This page is built from the MedlinePlus health topic record for Porphyria, a service of the U.S. National Library of Medicine (NLM), National Institutes of Health. Information is from MedlinePlus.gov. PocketsInfo is not affiliated with, and is not endorsed by, the NLM or the NIH. Retrieved 30 July 2026.