Hepatoerythropoietic porphyria: Difference between revisions
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{{Infobox medical condition | |||
| name = Hepatoerythropoietic porphyria | |||
| image = [[File:Uroporphyrinogen_III_decarboxylase.png|left|thumb|Uroporphyrinogen III decarboxylase]] | |||
| caption = Uroporphyrinogen III decarboxylase, the enzyme deficient in hepatoerythropoietic porphyria | |||
| synonyms = HEP | |||
| field = [[Hematology]], [[Dermatology]] | |||
| symptoms = [[Photosensitivity]], [[blistering]] of the skin, [[hypertrichosis]], [[red urine]] | |||
| complications = [[Liver damage]], [[anemia]] | |||
| onset = [[Infancy]] or [[childhood]] | |||
| duration = [[Chronic]] | |||
| causes = [[Genetic mutation]] in the [[UROD]] gene | |||
| risks = [[Family history]] | |||
| diagnosis = [[Urine test]], [[genetic testing]] | |||
| differential = [[Porphyria cutanea tarda]], [[congenital erythropoietic porphyria]] | |||
| treatment = [[Sun avoidance]], [[beta-carotene]], [[phlebotomy]], [[chloroquine]] | |||
| medication = [[Hydroxychloroquine]] | |||
| frequency = Rare | |||
| deaths = Rarely fatal | |||
}} | |||
'''Other Names:''' HEP | '''Other Names:''' HEP | ||
Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. | Hepatoerythropoietic porphyria (HEP) affects the skin and is due to a build-up of damaging chemicals in the body. | ||
=='''Epidemiology'''== | =='''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. | 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'''== | =='''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. | 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. | 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. | 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'''== | =='''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. | 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: | Signs and symptoms of hepatoerythropoietic porphyria may include: | ||
*Extreme sensitivity to the sun ([[photosensitivity]]) | *Extreme sensitivity to the sun ([[photosensitivity]]) | ||
*[[Blistering]] in sun exposed areas | *[[Blistering]] in sun exposed areas | ||
| Line 26: | Line 38: | ||
*Extra body hair ([[hypertrichosis]]) | *Extra body hair ([[hypertrichosis]]) | ||
*[[Anemia]] | *[[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. | 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. | 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 | 80%-99% of people have these symptoms | ||
* Cutaneous photosensitivity(Photosensitive skin) | * Cutaneous photosensitivity(Photosensitive skin) | ||
* [[Hemolytic anemia]] | * [[Hemolytic anemia]] | ||
* Thin skin | * Thin skin | ||
=='''Diagnosis'''== | =='''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. | 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'''== | =='''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. | 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: | Specialists involved in the care of someone with hepatoerythropoietic porphyria may include: | ||
*[[Hematologist]] | *[[Hematologist]] | ||
*[[Dermatologist]] | *[[Dermatologist]] | ||
*Liver specialist | *Liver specialist | ||
*{{NLM|hepatoerythropoieticporphyria}} | *{{NLM|hepatoerythropoieticporphyria}} | ||
*{{RareDiseases|6169|Hepatoerythropoietic porphyria}} | *{{RareDiseases|6169|Hepatoerythropoietic porphyria}} | ||
{{Heme metabolism disorders}} | {{Heme metabolism disorders}} | ||
[[Category:Porphyrias]] | [[Category:Porphyrias]] | ||
[[Category:Skin conditions resulting from errors in metabolism]] | [[Category:Skin conditions resulting from errors in metabolism]] | ||
{{endocrine-disease-stub}} | {{endocrine-disease-stub}} | ||
{{rarediseases}} | {{rarediseases}} | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:46, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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[edit]
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
| Heme metabolism disorders | ||||||||||||||||||
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NIH genetic and rare disease info[edit]
Hepatoerythropoietic porphyria is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Hepatoerythropoietic porphyria
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