What is Porphyria?

Considered rare, Porphyria is the term for certain skin or nervous system disorders that result from the accumulation of natural chemicals within the body that produce porphyrin (biological pigments) that help hemoglobin transport oxygen to organs and tissues. Too much of these pigments can create an internal imbalance and produce an assortment of symptoms.

Porphyrias and Heme

Blood gets its red color from the production of a substance called heme, which is primarily made in the liver and bone marrow (tissue inside bones). With a porphyria, biological pigments aren’t made into a red pigment called heme. In the form of hemoglobin, it helps break down medications and other substances that need to be processed for the liver to function.

Causes of Porphyrias

Porphyria disorders are often inherited. It’s not known why the body sometimes fails to complete the process of transforming porphyrins into heme. Environmental factors may also contribute to the development of some porphyrias or trigger the onset of symptoms.

What are the Symptoms of Porphyria?

Inherited porphyrias may be triggered by:

  • Chronic hepatitis C
  • HIV (human immunodeficiency virus)
  • Too much iron absorption

Porphyria Causes

Heme production in the body is vital for the creation of hemoglobin, the protein that gives blood its red color. When heme is not produced in large enough quantities, it cannot bind to porphyrin, a substance which aids hemoglobin in binding iron and delivering oxygen to blood cells and organs. When this occurs, the natural chemicals that create porphyrin build up in the body and cause many significant health issues, especially in the liver. There are two major forms of Porphyria. Genetic porphyria is caused by a defective gene that leads to the enzyme deficiency that causes porphyria. Most variations of Porphyria are genetic in nature, although simply having the abnormal gene does not guarantee the patient will develop Porphyria. Acquired Porphyria is caused by some other kind of trigger or environmental factor. Porphyrias also fall into two major categories depending on the part of the body they most affect. Acute porphyrias generally attack the central nervous system and tend to develop rapidly, but only for short episodes of time. Cutaneous porphyrias manifest in the skin and are often developed as a result of certain risk factors that act as triggers. Porphyria cutanea tarda (PCT) is the most common form of porphyria in the United States, and if left untreated can result in permanent damage to the skin.

How is Porphyria Treated?

Blood, urine, and stool tests usually determine if a porphyria is the cause of a patient’s presented symptoms. Some porphyrias are treated with the IV delivery of heme or a glucose blend in oral or IV form. In rare cases, a liver transplant may be recommended. Other porphyrias are treated by avoiding identified triggers or treating the contributing condition.

Porphyrias often require long-term treatment to manage resulting symptoms. Acute porphyrias affect various organs and the central nervous system and may result in abdominal pain. Cutaneous porphyrias mostly affect the skin and may cause itching or over-sensitivity to sunlight. Symptom triggers applying to all porphyrias typically include alcohol, smoking, stress, some medications, sunlight exposure, and dieting or fasting.

Porphyria Prevention

Acute porphyrias cannot really be prevented as they are inherited. However, controlling risk factors can help prevent attacks of acute porphyria and may actually prevent contraction of cutaneous porphyrias. Factors like exposure to sunlight and smoking are easily avoided or counteracted through the use of sunscreen. Alcohol intake can also be controlled or avoided altogether. Good self-care can also help prevent porphyrias from developing, as physical stress, especially as the result of an infection or other illnesses, have been known to trigger the onset of Porphyria. A healthy diet and management of emotional stress are also preventive measures. Certain medications, particularly synthetic hormones, have been linked to cutaneous porphyrias and can also be avoided.