Erythropoietic Protoporphyria

Porphyria is a group of eight very rare disorders that affects the heme which is a portion of the hemoglobin - protein - of our red blood cells which facilitate the carrying of oxygen throughout our body. 

Porphyrins are part of the body's natural chemicals that aid in the production of hemoglobin. Our body produces heme through a process that includes several steps. When an individual is lacking in certain enzymes, this process is inhibited and causes the build up of porphyrins within our body resulting in porphyria.

The different types of porphyria are characterized by which of the porphyrins (chemicals) are affected and build up within the body.  In the disease known as erythropoietic porphyria, it is the protoporphyrin IX that builds up within the system causing the primary symptom of extreme photosensitivity.

The Effects of Elevated Levels of Protoporphyrin

When an individuals has erythropoietic protoporphyria, the levels of protoporphyrin become elevated and causes the accumulation of this chemical with the red blood cells, bone marrow, and occasionally the liver.

The liver excretes the execissive levels of protoporphyrin into the bile where it then enters the intestinal tract and is eliminated through feces. The primary symptom of protoporphyria is photosensitivity which causes and individual to have reactions which are painful when they are exposed sunlight.

These reactions include the skin becoming red, burning, itching, and swelling. These symptoms can occur even when the individual is exposed to the sunlight indirectly through a glass window.

The symptoms that patients experience with protoporphyria can be mild to severe and in more severe cases causes skin lesions to occur after the skin is exposed to the sun for an extended period of time.

These lesions can cause the individual to have scarring that is superficial. Other symptoms that may occur with this disorder include the development of gallstones which when analyzed will contain    protoporphyrin and liver complications that can be quite severe when it accumulates high levels of protoporphyrin.

Treatment of Protoporphyria

With the primary symptom of erythropoietic protoporphyria being that of photosensitivity, the primary recommended form of treatment is to limit their exposure to the sun. It is essential that these patients also have laboratory tests that are done on a yearly basis to monitor their blood levels as well as liver function due to the fact that high levels of protoporphyrin has been known to cause liver damage in some individuals.

Patients with this condition should also be careful when taking any medications including over-the counter medications that can be harmful to the liver. Patients with protoporphyria are also susceptible to experiencing the same symptoms of photosensitivity when exposed to other forms of lighting including that of fluorescent lights and those used during surgical procedures.

Certain medications that include anesthetics also have the potential to be harmful to those with EPP, therefore, it is highly recommended that patients who suffer from this condition where a medical identification bracelet stating that they have this disorder.