Protoporphyria Erythropoietic

DEFINITIONS

Protoporphyria Erythropoietic is a situation where protoporfirin accumulated in the bone marrow, red blood cells and blood plasma, and causes skin fotosensitivitas.

CAUSE

In this hereditary porfiria, ferokelatase enzyme shortage.
Lack of enzymes derived from one of his parents, causing protoporfirin accumulated in the bone marrow and blood.

Excess protoporfirin channeled through the liver into the bile and eventually disposed of with feces.

SYMPTOMS

Symptoms usually begin in childhood.

Pain and swelling occurred immediately after skin exposure to sunlight.
Rare blister and scar tissue formation.

Diagnosis

Diagnosis is difficult because the disease is very difficult protoporfirin soluble and not excreted through the urine.

Diagnosis when protoporfirin found elevated levels in plasma and red blood cells.

TREATMENT

Sunlight should be avoided.

Beta-carotene when consumed in sufficient quantities to cause mild yellow coloring of the skin and very effective, because it causes the patient more tolerant to sunlight.

Patients may have protoporfiria eritropoetik gall bladder stones containing protoporfirin. Stone must be removed surgically.

Complications are more severe liver damage, and sometimes need to do a liver transplant.