hepatoerythropoietic porphyria

Hepatoerythropoietic Porphyria (HEP): A Rare Genetic Disorder

Hepatoerythropoietic porphyria (HEP) is a rare genetic disorder characterized by extreme photosensitivity, skin lesions with fluid-filled blisters that break and heal slowly, hypertrichosis (excessive hair growth), and scarring over the affected skin areas. This condition typically starts during infancy or childhood.

Key Features of HEP:

• Extreme Photosensitivity: Individuals with HEP are extremely sensitive to sunlight, which can lead to severe blistering and scarring.
• Skin Lesions: Fluid-filled blisters on the skin that break and heal slowly, often leaving scars.
• Hypertrichosis: Excessive hair growth over the affected skin areas.
• Scarring: Scarring over the affected skin areas due to repeated blistering and healing.

Other Symptoms:

• Mild anemia/hemolysis (not uncommon)
• Disease manifestations occur during infancy or childhood, with similar frequency in females and males
• No liver involvement

Causes and Treatment: HEP is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase. The condition is inherited in an autosomal recessive manner, meaning that both copies of the UROD gene must be mutated to cause the disease. Treatment for HEP is symptomatic, focusing on reducing exposure to sunlight and managing symptoms.

References:

• [1] Clinical Description. Hepatoerythropoietic porphyria (HEP) is characterized by extreme photosensitivity, skin lesions with fluid-filled blisters that break and heal slowly, hypertrichosis, and scarring over the affected skin areas.
• [10] Clinical characteristics: Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males. Mild

Symptoms of Hepatoerythropoietic Porphyria (HEP)

Hepatoerythropoietic porphyria (HEP) is a rare genetic disorder that affects the skin and other parts of the body. The symptoms of HEP can vary from one person to another, but they often include:

• Severe blistering and scarring: Skin photosensitivity results in severe blistering and scarring, often with mutilation and loss of facial features and fingers [10][13].
• Extreme sun sensitivity: People with HEP are extremely sensitive to sunlight, which can cause severe blistering and scarring [12][13].
• Extra body hair: Hypertrichosis is a common symptom of HEP, where people grow excessive amounts of hair on their bodies [11][12].
• Discolored teeth: Some people with HEP may experience discoloration or staining of their teeth [12].
• Anemia: Mild anemia or hemolysis (breakdown of red blood cells) are not uncommon in people with HEP [11].

Other symptoms

In addition to these physical symptoms, people with HEP may also experience:

• Developmental delay: Some individuals with HEP may experience severe developmental delay, neurological deficit, psychomotor retardation, ataxia, convulsions, short stature, and cataract [6].
• Neurological symptoms: The disease can also cause impairment of the nerves controlling the muscles, leading to confusion, convulsions, and muscular weakness, which may lead to paralysis [14].

Similarities with other conditions

It's worth noting that the symptoms of HEP can resemble those of other medical conditions, such as Congenital Erythropoietic Porphyria (CEP), Guillain-Barre syndrome, eczema, multiple sclerosis, and irritable bowel syndrome [7].

Hepatoerythropoietic porphyria (HEP) is a rare genetic disorder characterized by deficiency of the enzyme, uroporphyrinogen decarboxylase (UROD). The diagnosis of HEP can be made through various diagnostic tests.

Biochemical Testing The presence of significantly elevated porphyrins in the urine and stool, particularly uroporphyrin and heptacarboxylporphyrin, is a key indicator of HEP. Additionally, increased erythrocyte zinc protoporphyrin levels can also be observed [10].

DNA Testing DNA testing to identify specific mutations in an individual's UROD genes is the most specific and sensitive test to confirm the diagnosis of HEP [6]. This test can help identify a proband with significantly elevated porphyrins in the urine, as well as biallelic pathogenic variants in UROD.

Other Diagnostic Tests Porphobilinogen (PBG) measurement, urine porphyrin fractionation, and erythrocyte protoporphyrin measurements are also used as initial testing for HEP [3]. However, these tests may not be specific to HEP and can lead to false positive results if the person doing the test lacks experience in interpretation.

Diagnostic Criteria The diagnosis of HEP is established when there are significantly elevated porphyr

Treatment Overview

Hepatoerythropoetic porphyria (HEP) is a rare genetic disorder that requires careful management to alleviate symptoms and prevent complications. While there is no cure for HEP, various treatments can help manage the condition.

Phlebotomy and Hydroxychloroquine

The mainstay therapies for HEP are phlebotomy and hydroxychloroquine [6]. Phlebotomy involves regular blood donations to reduce the accumulation of toxic porphyrins in the body. Hydroxychloroquine, an antimalarial drug, can also help alleviate symptoms by reducing porphyrin production.

Other Treatments

In addition to phlebotomy and hydroxychloroquine, other treatments may be necessary depending on individual circumstances [9]. These include:

• Chloroquine: This antimalarial drug has been used in some cases to treat HEP, although its effectiveness is limited [5].
• Phlebotomy: Regular blood donations can help reduce the accumulation of toxic porphyrins in the body.
• Hydroxyurea and splenectomy: In rare cases, these treatments may be necessary to manage severe anemia or other complications [4].

Supportive Care

Strict photoprotection is essential for individuals with HEP to prevent skin damage from sunlight exposure. Supportive care, such as pain management and hydration, may also be necessary during acute attacks.

References

• [1] Hepatoerythropoietic porphyria (HEP) is an extremely rare condition caused by biallelic pathogenic variants in the UROD gene.
• [4] Treatment with hydroxyurea and splenectomy are rarely necessary. Chloroquine and phlebotomy are of limited effectiveness in the treatment of hepato-...
• [6] The mainstay therapies of PCT are phlebotomy and hydroxychloroquine. Depending on the specific comorbidities and susceptibility factors, we can ...
• [9] The standard treatments for PC (regularly blood donations) are also used to treat HEP.
• [11] A stay in the hospital for treatment of symptoms such as severe pain, vomiting, dehydration or breathing problems.

Note: The rarity of HEP makes identification of additional risk factors difficult to assess.

Hepatoerythropoietic porphyria (HEP) is a rare genetic disorder, and its differential diagnosis involves considering other types of hereditary porphyrias that may present with similar symptoms.

Other Types of Hereditary Porphyrias

• Acute Intermittent Porphyria (AIP): AIP is another type of acute porphyria that can cause abdominal or generalized pain, neurological symptoms, and psychiatric disturbances. It is caused by a deficiency of the enzyme hydroxymethylbilane synthase.
• Congenital Erythropoietic Porphyria (CEP): CEP is a rare form of porphyria that affects the production of heme in red blood cells. It can cause blistering skin lesions, scarring, and other symptoms similar to HEP.
• Porphyria Cutanea Tarda (PCT): PCT is another type of porphyria that can cause blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. It is caused by a deficiency of the enzyme uroporphyrinogen decarboxylase.

Differential Diagnosis Considerations

• Symptoms: The symptoms of HEP, such as blistering skin lesions, hypertrichosis, and scarring, can be similar to those of other types of porphyrias.
• Genetic Factors: HEP is an autosomal recessive disorder, which means that it is caused by a mutation in both copies of the gene. Other types of porphyrias may also have genetic factors involved in their development.
• Clinical Presentation: The clinical presentation of HEP can be similar to that of other types of porphyrias, making differential diagnosis challenging.

References

• [4] Other types of hereditary porphyria in the differential diagnosis of hepatoerythropoietic porphyria (HEP) are summarized in Table 4.
• [10] Hepatoerythropoietic porphyria (HEP) is characterized by blistering skin lesions, hypertrichosis, and scarring over the affected skin areas. Disease manifestations occur during infancy or childhood and with similar frequency in females and males.
• [12] The differential diagnosis of ADP should include other hepatic porphyrias (AIP, HCP and VP) and toxic states in which ALAD enzyme activity is suppressed, which include lead poisoning.

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