Living with Variegate porphyria
An inherited condition affecting how the body makes heme, which can cause sun-sensitive skin blisters and sudden attacks of stomach pain.
Understanding Variegate porphyria
Symptoms usually begin in the teen years or adulthood and differ from person to person. Some people have sun-sensitive skin with blisters and sores. Some have sudden attacks of severe stomach pain, nausea, and vomiting. GARD notes that some people with the gene change never have symptoms.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sun-sensitive skin
- Skin blisters and sores
- Belly pain
- Muscle weakness
- Anxiety
- Constipation
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 PPOX 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
Variegate porphyria is caused by changes in the PPOX gene. A child can get it from one parent with the changed gene (autosomal dominant).
Also known as: dean-barnes syndrome; mixed porphyria; porphyria variegata; porphyria, south african type; ppox deficiency; protocoproporphyria
Patient organizations
- American Porphyria FoundationVariegate porphyria · United States
- United Porphyrias AssociationVariegate 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 Variegate porphyria.
Explore research for Variegate porphyria
Explore actively recruiting Variegate porphyria studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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