Edit concept Question Editor Create issue ticket

Hepatoerythropoietic Porphyria

HEP


Presentation

  • CT and MR findings in two patients with hepatoerythropoietic porphyria are presented. CT scans showed atrophy and cortical mineralization at the same level.[ncbi.nlm.nih.gov]
  • We emphasize the importance of considering HEP in children who present with skin fragility and scarring in sun-exposed sites, even in the absence of acute photosensitivity.[ncbi.nlm.nih.gov]
  • Consequently, catalytically inactive, cross-reactive immunological material (CRIM) was present, and the patient was CRIM-positive.[ncbi.nlm.nih.gov]
  • A summary of the 7 mutations/deletions found in the UROD gene with their frequency is presented.[ncbi.nlm.nih.gov]
  • Kontos APOzog DBichakjian CLim HW Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature.[dx.doi.org]
Anemia
  • […] few individuals. 28 The affected children in our family all had chronic anemia and were followed by a hematologist for years before the diagnosis of HEP, emphasizing the importance of recognizing anemia as a feature of HEP.[dx.doi.org]
  • The affected children in our family all had chronic anemia and were followed by a hematologist for years prior to diagnosis of HEP, emphasizing the importance of recognizing anemia as a feature of HEP.[ncbi.nlm.nih.gov]
  • Seven other cases of HEP have been found in the medical literature; the disease has systemic complications, mainly liver disease and anemia, and is inherited as an autosomal recessive trait.[ncbi.nlm.nih.gov]
  • Excessive accumulation of photoactive porphyrins in the skin, bone marrow, and peripheral blood results in photodermatitis, secondary skin infections, and “intractable” anemia. 1 We report the successful treatment of life-threatening anemia with recombinant[nejm.org]
Joint Deformity
  • Severe cutaneous findings, a HFE H63D mutation, and elevated ferritin levels were recently described in a 2-year-old boy with HEP. 32 Sclerodactyly, osteolysis and shortening of the phalanges, and progressive joint deformities can occur as components[dx.doi.org]
Photosensitivity
  • The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine.[ncbi.nlm.nih.gov]
  • In a case of hepatoerythropoietic porphyria (HEP) with unusual features, the patient had onset of photosensitivity in infancy, followed by spontaneous resolution of photosensitivity by the age of 7 years.[ncbi.nlm.nih.gov]
  • The human disease has an early onset, manifesting in infancy or early childhood with red urine, skin photosensitivity in sun-exposed areas, and hypertrichosis.[ncbi.nlm.nih.gov]
  • Showing of 11 80%-99% of people have these symptoms Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Hemolytic anemia 0001878 Thin[rarediseases.info.nih.gov]
Blister
  • A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis.[ncbi.nlm.nih.gov]
  • Although these lesions were photodistributed, overt photosensitivity had not been observed, with the exception of a single episode of blistering and onycholysis after intense sun exposure in 1 affected child.[ncbi.nlm.nih.gov]
  • Affected infants may have extremely fragile skin that can peel or blister on minimal impact is common. Reddening of the skin is also common (erythema). Blistering skin lesions can develop on sun-exposed skin such as the hands and face.[porphyriafoundation.org]
  • It is characterised by a dark urine, marked cutaneous photosensitivity including blistering, burning and pruritus. Photosensitivity decreases with age and is followed by hyperpigmentation, hypertrichosis and scleroderma like scarring.[gpnotebook.co.uk]
  • Typically, chronic blistering of the skin on exposure to sunlight in young children, is reported to be a characteristic and identifying feature of HEP.[dovemed.com]
Photosensitive Skin Rash
  • Showing of 11 80%-99% of people have these symptoms Cutaneous photosensitivity Photosensitive skin Photosensitive skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Hemolytic anemia 0001878 Thin[rarediseases.info.nih.gov]
Disfiguring Scar
  • Disfiguring scarring with inflamed erosions was present on sites exposed . . . Jörg H. Horina, M.D. Peter Wolf, M.D. Karl-Franzens University, A-8036 Graz, Austria[nejm.org]
Red Urine
  • Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic serum and urine porphyrin profiles. Two siblings had the classic clinical and biochemical findings of HEP.[ncbi.nlm.nih.gov]
  • The human disease has an early onset, manifesting in infancy or early childhood with red urine, skin photosensitivity in sun-exposed areas, and hypertrichosis.[ncbi.nlm.nih.gov]
  • HEP is characterized by bullous cutaneous lesions on sun-exposed skin (usually face and hands), hypertrichosis, scarring, and red urine. Other commons signs and symptoms include hemolytic anemia, hyperpigmented skin, and splenomegaly.[visualdx.com]
  • urine, dark diapers that show a red fluorescence under UV light Phototherapy for hyperbilirubinemia leads to severe skin blistering.[merckmanuals.com]
  • Symptoms may include muscle pain or paralysis, seizures, disorientation, hallucination, bloody (red) urine, hypertension and gastrointestinal problems such as vomiting, abdominal pain and constipation.[betterhealth.vic.gov.au]

Workup

  • The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Cutaneous) Testing Algorithm in Special Instructions or call 800-533-17140 to discuss testing strategies.[mayomedicallaboratories.com]
Pink Urine
  • The disorder typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine.[ncbi.nlm.nih.gov]
  • […] of porphyria cutanea tarda, with markedly deficient activity of uroporphyrinogen decarboxylase (UROD); manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia and pink[pathologyoutlines.com]
  • HEP typically manifests during infancy or early childhood with extreme photosensitivity, skin fragility in sun-exposed areas, hypertrichosis, erythrodontia, and pink urine.[ncbi.nlm.nih.gov]
Glycosuria
  • 1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency ) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance ) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria[wikidoc.org]

Treatment

  • If you have questions about which treatment is right for you, talk to your healthcare professional.[rarediseases.info.nih.gov]
  • Management and treatment Management includes protecting the skin from light and, in cases of anemia, blood transfusions. Treatment with hydroxyurea and splenectomy is rarely necessary. Prognosis The long term prognosis is favorable.[orpha.net]
  • Treatment may include scheduled phlebotomy and low dose hydroxychloroquine. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org]
  • الصفحة 295 - Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III). ‏[books.google.com]

Prognosis

  • Prognosis The long term prognosis is favorable. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • Diagnosis - Hepatoerythropoietic porphyria Prognosis - Hepatoerythropoietic porphyria Not supplied.[checkorphan.org]
  • What is the Prognosis of Hepatoerythropoietic Porphyria? (Outcomes/Resolutions) The prognosis of Hepatoerythropoietic Porphyria varies with the severity of the condition.[dovemed.com]
  • (Outcomes/Resolutions) The prognosis of Porphyria Cutanea Tarda varies with the severity of the condition.[dovemed.com]

Etiology

  • Etiology It is caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway) that leads to an accumulation of uroporphrin in the liver.[orpha.net]
  • McKee's Pathology of the Skin is the most complete, in-depth resource on dermatopathology, covering etiology, pathogenesis, disease mechanisms, and recent genetic, molecular, and basic science data. Drs. J.[books.google.com]
  • (Etiology) Hepatoerythropoietic Porphyria is caused by mutations in the UROD gene, which is necessary to produce “heme”. The condition is inherited in an autosomal recessive manner. The gene is located on the short arm of chromosome 1.[dovemed.com]
  • ., anemia , alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]

Epidemiology

  • Summary Epidemiology Fewer than 40 cases of HEP have been described. Clinical description The disease starts in childhood.[orpha.net]
  • ., anemia , alcohol, or chronic heavy metal poisoning ) Porphyria cutanea tarda (PCT) Epidemiology Most common porphyria Peak incidence : 40–70 years Sex: Etiology Defective uroporphyrinogen III decarboxylase ( UROD ) Type I: acquired insufficiency of[amboss.com]
  • Patients with Porphyria in Brazil have the same epidemiological characteristic as the US and UK. In Brazil, porphyria should be studied more carefully in order to assess, properly diagnose and treat.[medcraveonline.com]
  • Molecular epidemiology of erythropoietic protoporphyria in the united kingdom. Br J Dermatol. 2010;162:642–6. Minder EI, Schneider-Yin X, Steurer J, Bachmann LM.[rarediseases.org]
  • Porphyria due to environmental exposure to hepatotoxic organic chemicals, such as hexachlorobenzene or dioxin, calls for epidemiologic investigation and for evaluation of other individuals similarly exposed.[clinicalpainadvisor.com]
Sex distribution
Age distribution

Pathophysiology

  • This book discusses as well the biochemistry, pathophysiology, and clinical features of variegate porphyria in the light of several essential advances in the understanding, management, and diagnosis of variegate porphyria.[books.google.com]
  • Pathophysiology As a result of the mutations describe above, EPP patients have a buildup of protoporphyrin.[dermatologyadvisor.com]
  • Stress (e.g., surgery, infection) Pathophysiology : defective PBG-D accumulation of porphobilinogen ( PBG ) and δ-aminolevulinic acid ( ALA ) symptoms Clinical features Fever GI symptoms : severe abdominal pain , nausea , vomiting Neurological abnormalities[amboss.com]
  • For porphyria etiology and pathophysiology, see Overview of Porphyrias. In all cutaneous porphyrias except EPP and XLPP, cutaneous photosensitivity manifests as fragile skin and bullous eruptions.[merckmanuals.com]
  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway.[mayomedicallaboratories.com]

Prevention

  • Prevention - Hepatoerythropoietic porphyria Not supplied. Diagnosis - Hepatoerythropoietic porphyria Prognosis - Hepatoerythropoietic porphyria Not supplied.[checkorphan.org]
  • Currently, there are no specific methods or guidelines to prevent Hepatoerythropoietic Porphyria, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus[dovemed.com]
  • Emphasis is on prevention of attacks by avoiding fasting and drugs that precipitate the symptoms. Photosensitivity may be controlled by avoiding exposure to light.[medical-dictionary.thefreedictionary.com]
  • Early diagnosis and appropriate management are important for preventing long-term disability and achieving good outcomes.[pulmonarychronicles.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!