Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. Symptoms usually begin in infancy and include extreme sun sensitivity, extra body hair, discolored teeth, and anemia. Over time, people with HEP may lose skin, bone or develop scarring in sun-exposed areas. HEP is caused by a UROD gene that is not working correctly and is inherited in an autosomal recessive pattern. HEP is diagnosed based on the symptoms, clinical exam, laboratory testing, and confirmed by genetic testing. Treatment of HEP is focused on avoiding sun exposure and managing the symptoms.

Signs and symptoms of hepatoerythropoietic porphyria may include:

• Extreme sensitivity to the sun (photosensitivity)
• Blistering in sun exposed areas
• Scarring
• Discolored teeth and urine
• Extra body hair (hypertrichosis)
• Anemia

Symptoms of HEP usually begin in infancy or early childhood, although in a few cases symptoms don't appear until adulthood. In some people, photosensitivity leads to scarring and loss of skin and bone. People with HEP may also be more likely to get bacterial infections.

UROD gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly, or sometimes not at all.

People with autosomal recessive conditions inherit one alteration from each of their parents. The parents, who each have one gene alteration, are known as carriers. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When two carriers of an autosomal recessive condition have children, there is a 25% (1 in 4) chance to have a child with the condition.

Hepatoerythropoietic porphyria is diagnosed based on the symptoms, a clinical exam, and genetic testing. In addition, specific laboratory tests may be done to look for abnormal levels of certain chemicals in the blood and urine.

Specialists involved in the care of someone with hepatoerythropoietic porphyria may include:

• Hematologist
• Dermatologist
• Liver specialist

There have been less than 100 cases of hepatoerythropoietic porphyria reported in the medical literature. Some evidence suggests that about 1 in 20,000 people may have this condition.