Porphyria

Overview

Acute porphyria attacks cause belly pain, vomiting, and sometimes weakness or confusion.

Skin porphyrias cause painful blisters in sunlight.

Symptoms

Common signs:

• Severe belly pain attacks

Less common

• Dark urine
• Blistering with sun

When to get medical care

Causes

Genes.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history
• Women: Attacks more common
• People who drink alcohol or smoke: More attacks

Possible complications

• Liver cancer: Higher risk with some types

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Urine and blood tests:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Avoid triggers

Prevention

To lower your risk or prevent problems:

• Avoid triggers

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a hematologist (blood doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Women: Attacks can link to hormones.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Treatment stops attacks.

Avoiding triggers prevents attacks.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?
• Which medicines should I avoid?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Porphyria