Overview
Familial porphyria cutanea tarda (also called familial PCT or type 2 PCT) is a rare inherited metabolic disorder that affects how your body processes a substance called heme, which is a key part of red blood cells. The disease is caused by a reduced activity of an enzyme called uroporphyrinogen decarboxylase (UROD), which is needed to complete the heme-making process. When this enzyme does not work properly, toxic substances called porphyrins build up in the body, especially in the skin and liver. The most noticeable symptoms involve the skin. People with familial PCT develop extreme sensitivity to sunlight, leading to blistering, fragile skin, and scarring on sun-exposed areas like the hands, face, and arms. The skin may also become thickened or develop small white bumps called milia. The liver is often affected too, and long-term liver damage can occur if the condition is not managed. The good news is that familial PCT is one of the more treatable rare diseases. Treatments like regular low-dose blood removal (phlebotomy) or a medication called hydroxychloroquine can significantly reduce porphyrin levels and improve symptoms. Avoiding triggers such as alcohol, iron supplements, estrogen, and sun exposure is also a very important part of managing this condition. With proper care, most people can achieve remission and live a good quality of life.
Also known as:
Key symptoms:
Blistering of the skin on sun-exposed areas like hands, face, and forearmsExtremely fragile, easily injured skinScarring and skin thickening after blisters healSmall white cysts (milia) on the skinIncreased hair growth on the face and other areas (hypertrichosis)Darkening or discoloration of the skinReddish or brownish urine (especially after sun exposure)Liver inflammation or damageFatigue and general tirednessItching or burning of the skin in sunlightSkin that takes a long time to heal after minor injuries
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Familial porphyria cutanea tarda.
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Specialists
View all specialists →No specialists are currently listed for Familial porphyria cutanea tarda.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial porphyria cutanea tarda.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Should I get genetic testing, and should my family members be tested too?,Which treatment is right for me — phlebotomy, hydroxychloroquine, or both?,How will we know when I am in remission, and how often do I need follow-up tests?,Do I need to be tested for hepatitis C or hemochromatosis gene mutations?,Are there any medications I am currently taking that could be making my condition worse?,What level of sun exposure is safe for me, and what sun protection do you recommend?,What are the signs that my liver may be getting worse, and when should I see a liver specialist?
Common questions about Familial porphyria cutanea tarda
What is Familial porphyria cutanea tarda?
Familial porphyria cutanea tarda (also called familial PCT or type 2 PCT) is a rare inherited metabolic disorder that affects how your body processes a substance called heme, which is a key part of red blood cells. The disease is caused by a reduced activity of an enzyme called uroporphyrinogen decarboxylase (UROD), which is needed to complete the heme-making process. When this enzyme does not work properly, toxic substances called porphyrins build up in the body, especially in the skin and liver. The most noticeable symptoms involve the skin. People with familial PCT develop extreme sensitiv
How is Familial porphyria cutanea tarda inherited?
Familial porphyria cutanea tarda follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial porphyria cutanea tarda typically begin?
Typical onset of Familial porphyria cutanea tarda is adult. Age of onset can vary across affected individuals.