Living with Acute intermittent porphyria
A condition in which low levels of an enzyme can cause attacks of belly pain and nausea when triggered.
Understanding Acute intermittent porphyria
The low enzyme level usually isn't enough to cause symptoms by itself. Triggers such as hormones, drugs, and diet changes may bring symptoms on. Most people with AIP never develop symptoms. When symptoms do appear, it is typically in the teen years or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Belly pain
- Nausea and vomiting
- Constipation
- Back, neck, or limb pain
- Fast heart rate (tachycardia)
- High blood pressure
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in HMBS are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
American Porphyria Foundation, United Porphyrias Association and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: American Porphyria Foundation, United Porphyrias Association, The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with American Porphyria Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the HMBS gene lead to low levels of the enzyme PBGD. It is autosomal dominant, which means a changed copy of the gene from one parent can be enough.
Also known as: acute porphyria; aip; aip - acute intermittent porphyria; hmbs deficiency; hydroxymethylbilane synthase deficiency; intermittent acute porphyria
Patient organizations
- American Porphyria FoundationAcute intermittent porphyria · United States
- United Porphyrias AssociationAcute intermittent porphyria · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Acute intermittent porphyria.
Explore research for Acute intermittent porphyria
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