Porphyria

Diagnosis

Porphyria can be difficult to diagnose because its symptoms often resemble those of many more common conditions. Since the disease is rare, laboratory tests are essential to confirm the diagnosis and determine the specific type. Your healthcare professional may order blood, urine or stool tests to measure porphyrin levels and identify which form of porphyria is present. Additional tests may be needed depending on symptoms and suspected type. Genetic testing can help confirm the diagnosis and clarify the type of porphyria, especially when results from other tests are unclear.

Meeting with a genetic counselor may be recommended. A counselor can explain the role of genetic tests, the risk of passing porphyria to children and whether family members should be tested. If you are diagnosed, relatives may also be advised to undergo genetic counseling and testing.

Treatment

Treatment depends on the type of porphyria, the severity of symptoms and the triggers involved. Management includes medicine, avoiding known triggers and relieving symptoms when they arise. Avoiding triggers helps prevent attacks and may reduce how often symptoms occur. This includes avoiding medicines linked to acute porphyria attacks, limiting alcohol, not smoking, avoiding extreme dieting and minimizing sun exposure. Using protective clothing, window filters and opaque sunscreens can help reduce skin symptoms. Treating infections early and managing emotional stress are also important preventive steps. Your healthcare professional may discuss ways to help reduce premenstrual attacks if needed.

For acute porphyrias, treatment focuses on fast, effective management to prevent complications. This may include hemin injections to limit porphyrin production and glucose given through a vein or taken by mouth to ensure adequate carbohydrates. Severe attacks may require a hospital stay if there is intense pain, vomiting, dehydration or breathing issues. Some adults may be prescribed givosiran, a monthly injection used in certain acute hepatic porphyrias to help lower the number of attacks.

For cutaneous porphyrias, treatment centers on reducing sunlight exposure and lowering the body’s porphyrin levels. This may include scheduled blood draws, known as phlebotomy, to lower iron stores and reduce porphyrins. Some people may take hydroxychloroquine to help the body clear excess porphyrins more quickly, especially when phlebotomy is not suitable. Vitamin D supplements may be recommended due to reduced sun exposure. High doses of beta carotene are often used for erythropoietic protoporphyria. Another option for this condition is afamelanotide, an implant that increases melanin in the skin to protect against sunlight and extend the time a person can spend outdoors.