Key Takeaways

  • Porphyria cutanea tarda (PCT) is a blood disorder that primarily manifests through skin symptoms like blisters, scarring, and darkened patches after sun exposure, typically affecting individuals over age 30.
  • Most cases result from acquired factors such as hepatitis C, HIV, or alcohol use, though roughly 20% to 25% stem from genetic alterations passed through families.
  • Treatment centers on lowering iron levels in the liver through regular blood removal (phlebotomies) or antimalarial medications, combined with lifestyle modifications like avoiding sunlight and alcohol to manage symptoms effectively.

Porphyria cutanea tarda (PCT) is a type of porphyria or blood disorder that affects the skin.

PCT is one of the most common types of porphyrias in the United States, and people with this condition often experience symptoms following exposure to sunlight.

Most of the PCT symptoms appear on the skin. Common symptoms include:

  • photosensitivity, which means your skin is sensitive to sunlight
  • blisters on skin that’s exposed to the sun, including the hands, face, and arms
  • thin or fragile skin
  • increased hair growth, usually on the face
  • crusting and scarring of the skin
  • discoloration, swelling, or itching of the skin
  • sores developing after minor skin injuries
  • hyperpigmentation, in which patches of skin become darker
  • urine that is darker than normal or reddish brown

After blisters form on your skin, the skin may peel, and healed blisters often leave scarring.

Hyperpigmentation patches usually appear on the face, hands, and neck.

PCT causes are usually categorized as either genetic or acquired.

PCT type 1 is acquired and affects around 75% to 80% of cases. The remaining cases are genetic or familial. These are called f-PCT or PCT type 2.

PCT types 1 and 2 affect both males and females equally and usually develop after age 30, so childhood-onset cases are rare.

The condition affects people worldwide and isn’t limited to any particular region or country. It’s estimated that 1 out of 10,000 to 25,000 people has PCT.

The most common genetic causes include:

  • family history of PCT
  • inherited deficiency of the liver enzyme uroporphyrinogen decarboxylase (UROD)
  • family history of liver disease or liver cancer
  • high levels of iron in the liver

The most common acquired causes include:

  • excess alcohol consumption
  • estrogen therapy
  • oral contraceptives
  • excess iron
  • smoking
  • hepatitis C
  • HIV

You may have a higher risk of PCT if you smoke or use alcohol. You’re also more likely to get this condition if you have hepatitis C or HIV.

Veterans who served in areas that used Agent Orange may also have an increased PCT risk.

Your doctor may do a physical exam, check your symptoms, and record your medical history.

The preferred PCT screening test is a measurement of porphyrins in blood plasma, the clear fluid that carries blood cells. This can help differentiate between PCT and other prophyria types.

In addition, they may use the following tests to confirm a PCT diagnosis:

  • urine tests
  • stool tests

The doctor will check your porphyrin and liver enzyme levels. Genetic testing may be recommended for people with a family history of this condition.

The treatment for PCT focuses on managing and preventing the symptoms, and effective treatment is seen in both PCT types.

Phlebotomies to reduce liver iron levels are the preferred treatment for PCT. Low dose antimalarial medications, such as chloroquine (Aralen) and hydroxychloroquine (Plaquenil), are also frequently used to reduce liver iron if phlebotomies are not an option.

If these two therapies are not possible, such as in those with end stage renal disease (ESRD), iron chelators may be used to lower liver iron levels. These are medications that bind to iron, allowing it to dissolve in water and be excreted through the kidneys. Examples include:

  • deferasirox (Exjade, Jadenu)
  • deferiprone (Ferriprox)
  • deferoxamine (Desferal)

Deferasirox and deferiprone are oral medications, and deferoxamine is typically administered via injection under the skin or via intravenous (IV) infusion.

Treating the diseases that cause the PCT, such as hepatitis C or HIV, can also be effective.

Common lifestyle adaptations to treat PCT may include avoiding:

  • sunlight
  • alcohol
  • smoking
  • estrogens

You can avoid sunlight by wearing long sleeves, wide-brimmed hats, and sunglasses when needed.

PCT can increase the risk of liver cancer or cirrhosis, which is scarring of the liver. However, advanced liver disease is uncommon, except in older adults who may have experienced recurring PCT episodes.

PCT usually affects adults over 30. It’s a blood disorder that mostly affects the skin. Your skin may be more sensitive to sunlight, so you may need to take extra precautions to avoid prolonged exposure, as painful blisters can occur.

Your doctor may recommend different treatments for PCT. Regular phlebotomies or antimalarial medications are the most common treatment options.