Hepatoerythropoietic porphyria

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Hepatoerythropoietic porphyria
Synonyms	HEP
Pronounce	N/A
Specialty	N/A
Symptoms	Photosensitivity, blistering of the skin, hypertrichosis, red urine
Complications	Liver damage, anemia
Onset	Infancy or childhood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the UROD gene
Risks	Family history
Diagnosis	Urine test, genetic testing
Differential diagnosis	Porphyria cutanea tarda, congenital erythropoietic porphyria
Prevention	N/A
Treatment	Sun avoidance, beta-carotene, phlebotomy, chloroquine
Medication	Hydroxychloroquine
Prognosis	N/A
Frequency	Rare
Deaths	Rarely fatal

Other Names: HEP Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body.

Epidemiology

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.

Cause

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

Inheritance

Hepatoerythropoietic porphyria (HEP) is inherited in an autosomal recessive pattern. All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition. 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.

Signs and symptoms

The following list includes the most common signs and symptoms in people with hepatoerythropoietic porphyria (HEP). These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition. 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. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cutaneous photosensitivity(Photosensitive skin)
• Hemolytic anemia
• Thin skin

Diagnosis

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.

Treatment

Avoidance of sunlight (including the long-wave ultraviolet light sunlight that passes through window glass) by use of protective clothing and topical application of opaque sunscreens. Phlebotomy and chloroquine, which are usually effective in treating familial porphyria cutanea tarda, are generally less effective in individuals with HEP. Specialists involved in the care of someone with hepatoerythropoietic porphyria may include:

• Hematologist
• Dermatologist
• Liver specialist
• Hepatoerythropoietic porphyria at NLM Genetics Home Reference
• Hepatoerythropoietic porphyria at NIH's Office of Rare Diseases

NIH genetic and rare disease info

• NIH info on Hepatoerythropoietic porphyria

Hepatoerythropoietic porphyria is a rare disease.