Congenital Erythropoietic Porphyria (CEP)

Congenital erythropoietic porphyria is the rarest of all types of porphyria. There have been less than 200 cases reported worldwide. CEP is an autosomal recessive trait caused by an inborn error of porphyrin-heme synthesis that affects the bone marrow and the blood. This disorder starts in infancy and affected individuals are extremely photosensitive. The accumulation of excess porphyrins through out the body causes this extreme photosensitivity.

Symptoms:

• extreme photosensitivity
• excess porphyrin causes teeth and bone to have a reddish color
• blistering, severe scaring and extreme hair growth
• hemolytic anemia can occur
• porphyrins cause urine to have wine color

CEP can range from mild to very severe especially in the skin, cartilage, and bones. Bacterial infections can cause mutilations of the blisters or cracked areas of the skin. If it is very severe the patient might lose their fingers, toes, nose, or ears. In some cases the patient can become blind if there is an ocular damage. With very severe hemolytic anemia the bone marrow can increase in size causing the bone to become more fragile or fracture.   The spleen can also increase in size, due to the storage of old red blood cells.   CEP patients have a short life span.  They rarely make it to the age of forty because their bodies aren't able to produce the red blood cells they need fast enough..