Porphyria Cutanea Tarda
What is Porphyria Cutanea Tarda?
Porphyria Cutanea Tarda (PCT) is an inherited metabolic disorder caused by a deficiency of the enzyme uroporphyrinogen decarboxylase (UROD). This enzyme is responsible for producing heme, the part of hemoglobin that carries oxygen in the red blood cells. A deficiency of UROD leads to an increase in uroporphyrin, which is a pigment that accumulates in the skin and causes symptoms such as blistering, redness, itching, swelling and scarring.
Symptoms
Common signs and symptoms of Porphyria Cutanea Tarda may include:
- Skin blistering, particularly on the hands, feet, and face
- Scarring of the skin, particularly around the eyes and mouth
- Excess hair growth in the face and extremities
- Sensitivity to sunlight
- Fatigue
- Difficulty sleeping
- Anemia
Diagnosis
The diagnosis of Porphyria Cutanea Tarda is made by a combination of clinical and laboratory tests. A complete blood count can reveal anemia and elevated levels of uroporphyrin, along with other metabolic tests. Genetic testing can also confirm a PCT diagnosis.
Treatment
The treatment for Porphyria Cutanea Tarda is aimed at reducing the symptoms and preventing further progression. In most cases, lifestyle modifications such as avoiding alcohol and certain medications, and avoiding exposure to sunlight can help reduce symptoms. Other treatments may include ultraviolet light therapy, oral medication, intravenous iron replacement, and oral antifungal medications. An iron supplement, along with a low-fat, high-fiber diet, may also be recommended.