How Is Porphyria Diagnosed?

Signs and symptoms of porphyria depend on the type of the condition, whether it is acute or cutaneous porphyria.

Acute porphyria

Acute porphyria affects the nervous system. Symptoms appear quickly in the form of episodes and can last for a few days to weeks.

The most common subtype is acute intermittent porphyria, and its symptoms include:

• Abdominal pain, chest pain, lower and upper limbs pain or back pain
• Constipation or diarrhea
• Pain, tingling, numbness or weakness in the muscles
• Red or brown color urine and difficulty urinating
• Increased blood pressure
• Irregular or fast heartbeats
• Mental conditions such as anxiety, hallucination, confusion and disorientation

Cutaneous porphyria

Cutaneous porphyria is the type that affects the skin. The most common type is porphyria cutanea tarda (PCT), which may not be hereditary.

Signs and symptoms are responses of the skin exposed to sunlight and include:

• Itching of the skin
• Edema or redness of the skin
• Erosions or abrasions
• Blisters
• Scarring of the skin exposed to the sun

Porphyria is a chronic condition that comes in episodes. This means you may get symptoms suddenly that disappear after some time and then come back again.

Certain factors trigger porphyria attacks, which include:

• Smoking
• Consumption of alcohol
• Estrogen-containing medication
• Medications such as barbiturates and sedatives
• Sunlight exposure
• Emotional stress
• Heavy diet control

Porphyria is a chronic illness, and you have to live with it for a lifetime. Treatment of the condition differs as per the type. It involves avoiding triggering factors, providing symptomatic relief and reducing the severity of the condition.

Treatment for acute porphyria

Treatment aims to provide fast relief from symptoms and avoid complications.

• Hemin injections: It is a form of heme that helps limit the production of porphyrins in the body.
• Intravenous or oral glucose: This helps maintain a sufficient amount of carbohydrates in the body.

Hospitalization may be needed in complications such as severe pain or difficulty breathing.

Sometimes, invasive treatments may be needed to manage symptoms, with treatment options such as:

• Blood transfusions
• Surgery to remove the spleen and liver
• Bone marrow transplantation

A person may need to sustain a high-carbohydrate diet to help with the symptoms.

Treatment for cutaneous porphyria

• Therapeutic phlebotomy: This involves periodical removal of blood (phlebotomy) from the body to reduce the amount of iron.
• Antimalarial drugs: Doctors may use antimalarial medications, such as hydroxychloroquine or chloroquine, to absorb excess porphyrins from the body.
• Vitamin D supplements: Avoiding exposure to sunlight is likely to result in vitamin D deficiency, so your doctor may prescribe you vitamin D supplements.