What is the diagnosis of Porphyria?

Updated at: Aug 25, 2014
What is the diagnosis of Porphyria?

Porphyria is diagnosed through blood, urine, and stool tests, especially at or near the time of symptoms.

Meenakshi Chaudhary
Blood DiseasesWritten by: Meenakshi ChaudharyPublished at: Aug 25, 2014

Porphyria is a group of disorders called porphyrias that affect the nervous system or the skin of a person or both. Each such disorder is caused by a specific abnormality in the heme production process. Heme is a red pigment that contains iron and performs several important functions in the body. Heme is incorporated into hemoglobin and gives blood its red colour. Heme also plays a role in the liver where it helps in the detoxification process. The most common type of porphyria overall is porphyria cutanea tarda.


Heme is produced through a complex process in the bone marrow and liver. The production process is controlled by eight different enzymes. If one of these essential enzymes is deficient, certain precursors may accumulate in tissues, causing one or the other porphyrias depending on which enzyme is deficient.

Among all types of porphyria people with cutaneous porphyria have most common symptoms and may develop blisters, itching, and swelling of their skin when it is exposed to sunlight. People with acute forms of the disorder develop tingling, paralysis, numbness , cramping, constipation, vomiting, mental disorders, and pain in the abdomen, back, chest and limbs.

Porphyria can be triggered by drugs, chemicals, fasting, smoking, alcohol, infections, stress, menstrual hormones, and exposure to the sun. Attacks of can last for days or weeks.

Signs and Symptoms

Every type of porphyria may have different signs and symptoms. Some disorders may cause the skin to become overly sensitive to sunlight causing redness, blistering and often scarring. Others acute porphyrias affect the nervous system causing symptoms that usually include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness.

mental health


Usually porphyrias are inherited conditions and doctors focus on the medical history of the person that may have symptoms of the disorder. The genes for all the eight enzymes involved in heme production have been identified. Usually porphyria results from inheriting one altered gene from one parent or two altered genes, one from each parent. Each type of the disorder carries a different risk for being inherited to the children of the affected person.

Porphyria is diagnosed through blood, urine, and stool tests, especially when the symptoms are significant. However the diagnosis of the disorder may be difficult as most of the symptoms of the disorder are common to several other disorders. Even the interpretation of the tests may be complex; therefore the results among different laboratories for the same test may not be always reliable.

Each type of porphyria is treated differently and the treatment usually involves avoiding triggers, receiving heme through a vein, medications to relieve symptoms, reducing iron in the body by drawing blood.


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