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]

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]

Acronym HEP Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

• Anemia

  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]

  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]

  […] 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]

  Other commons signs and symptoms include hemolytic anemia, hyperpigmented skin, and splenomegaly. Onset is typically during infancy and early childhood. [visualdx.com]

  Low levels of circulating red blood cells (anemia) may also occur. Anemia may be due to the premature destruction of red blood cells (hemolysis). Anemia associated with HEP may be mild or severe. [porphyriafoundation.org]

• Acute Intermittent Porphyria

  […] in acute intermittent porphyria). [emedicine.medscape.com]

  intermittent porphyria Most common, uroporphyrinogen I synthetase, increased dALA synthetase Acute intermittent porphyria lab findings dALA and porphobilinogen in urine, increased ADH secretion, increased bili and ALP from liver abnormalities Acute intermittent [quizlet.com]

  Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms. [ghr.nlm.nih.gov]

  Links: acute intermittent porphyria variegate porphyria hereditary coproporphyria porphyria cutanea tarda (PCT) erythropoietic porphyria erythropoietic protoporphyria hepatoerythropoietic porphyria [gpnotebook.co.uk]

  Solis, C, Martinez-Bermejo, A, Naidich, TP Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. [journals.sagepub.com]

• Fatigue

  […] 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 Polyneuropathy : non-specific pain, weakness/fatigue [amboss.com]

  Severe anemia may be associated with fatigue, pale skin, irregular heartbeat, chest pain, dizziness, and abnormally cold hands and feet. Some individuals may have an abnormally enlarged liver and/or spleen (hepatosplenomegaly). [porphyriafoundation.org]

  Short neck Hypertonia Syndactyly Areflexia Elevated serum creatine phosphokinase Feeding difficulties in infancy Camptodactyly of finger Joint stiffness Arthrogryposis multiplex congenita Severe global developmental delay Everted lower lip vermilion Fatigue [mendelian.co]

  Fatigue and muscle weakness are symptoms and sometimes the patient may be jaundiced. There are marked increases in the excretion of coproporphyrins in the urine and feces and there are usually increased excretions of PBG and ALA in the urine. [albertaporphyriasociety.weebly.com]

  […] an acute attack can be brought on by certain drugs, hormones in women, environmental factors including chemicals of various types, nutrition including fasting and low carbohydrate diets, alcoholic beverages, medical and physical stress, and physical fatigue [porphyriafoundation.blogspot.com]

• Epilepsy

  Childhood epilepsy is an exception to the postpuberty onset rule for initial porphyric attacks in the hepatic forms. [emedicine.medscape.com]

  EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 Is also known as ;epm6; gosr2-related progressive myoclonus ataxia; north sea progressive myoclonus epilepsy; pme type 6; progressive myoclonus epilepsy type 6 Related symptoms: Autosomal recessive inheritance [mendelian.co]

  […] dystrophy 遺伝性角膜ジストロフィー hereditary deafness 遺伝性難聴 hereditary deforming chondrodysplasia 遺伝性変形性軟骨異形成症 hereditary dentin hypoplasia 遺伝性歯牙形成不全 hereditary disease 遺伝病 hereditary elliptocytosis 遺伝性楕円赤血球症 hereditary enamel hypoplasia 遺伝性エナメル質形成不全症 hereditary epilepsy [jpeds.or.jp]

• Amyloidosis

  amyloidosis, Medication-induced hyperlipoproteinemia, Lichen amyloidosis, Metastatic calcinosis cutis, Normolipoproteinemic xanthomatosis, Hemodialysis-associated amyloidosis, Familial apoprotein CII deficiency, Xanthoma striatum palm... [amazon.es]

  Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly Glycoprotein Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis [wikidoc.org]

  壊血病 scorbutus 核黄疸 Kernikterus (独), kernicterus, nuclear jaundice 家族性アミロイドーシス familial amyloidosis 家族性アミロイドポリニューロパチー familial amyloidotic polyneuropathy 家族性LCAT欠損症 familial lecithin cholesterol acyltransferase deficiency 家族性高コレステロール血症 familial hypercholesterolemia [jsge.or.jp]

• Night Blindness

  Permanent residual deficits are not uncommon; residual defects during latent periods include polyneuropathy in both conditions, ataxia and retinitis pigmentosa with night blindness in Refsum disease, [7] and photosensitive dermatitis in porphyrias (rare [emedicine.medscape.com]

• 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]

  Most patients with HEP develop photosensitive eruptions during infancy or early childhood. [dx.doi.org]

• Blister

  A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. [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]

  The blisters were first noticed by the parents at the age of 4-5 years. The blisters were mostly present on exposed areas and used to heal with scarring. There was no history of a similar problem in the family. [e-ijd.org]

  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]

• Skin Lesion

  Hypertrichosis was almost completely removed after seven sessions without development of skin lesions. [ncbi.nlm.nih.gov]

  lesions and neurovisceral crises may occur alone or together; 2 fragile skin, blisters; 3 acute photosensitivity without fragile skin, blisters. [porphyria.eu]

  Bacterial infection of skin lesions can occur. Abnormal, excessive hair growth (hypertrichosis) may also occur on sun-exposed skin. Affected skin may darken or lose color (hyper- or hypopigmentation). [porphyriafoundation.org]

  Reaction Catalyzed by UROD PCT is characterized by blistering skin lesions on sun-exposed areas of the skin and the urinary excretion of large amounts of uroporphyrin. [themedicalbiochemistrypage.org]

• Erythema

  […] dominant disorder, a form of erythropoietic porphyria, characterized by increased levels of protoporphyrin in the erythrocytes, plasma, liver, and feces and a wide variety of photosensitive skin changes, ranging from a burning or pruritic sensation to erythema [medical-dictionary.thefreedictionary.com]

  Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome and erythema multiforme. Arch Dermatol '1993; 129: 92-6. ‎ [books.google.it]

  Erythema Chronicum Migrans A deep type of gyrate erythema that follows a bite by an ixodid tick; it is a stage-1 manifestation of LYME DISEASE. [healthdictionary.info]

  The clinical phenotype of EHK is characterized by erythema and widespread formation of epidermal blisters developing at birth. [mendelian.co]

• Dermatitis

  Pagina 516 - Werner Y, Lindberg M: Transepidermal water loss in dry and clinically normal skin in patients with atopic dermatitis. Acta Derm Venereol (Stockh) 1985;65:102-105. ‎ [books.google.it]

  Página 516 - Werner Y, Lindberg M: Transepidermal water loss in dry and clinically normal skin in patients with atopic dermatitis. Acta Derm Venereol (Stockh) 1985;65:102-105. ‎ [books.google.es]

  Permanent residual deficits are not uncommon; residual defects during latent periods include polyneuropathy in both conditions, ataxia and retinitis pigmentosa with night blindness in Refsum disease, [7] and photosensitive dermatitis in porphyrias (rare [emedicine.medscape.com]

• Psychiatric Symptoms

  Acute psychosis Psychiatric symptoms occur in 20-30% of patients during acute attacks. 9 Acute psychiatric symptoms can be a central nervous system manifestation of porphyria or can be precipitated by other causes, such as severe hyponatremia and other [pulmonarychronicles.com]

  symptoms abdominal pain, vomitting, constipation, tachycardia, hypertension, psychiatric symptoms, fever, leukocytosis, and paresthesia photosensitivity, blisters, excess facial hair, and hyperpigmentation autosomal recessive, extremely rare, affected [quizlet.com]

  symptoms; skin is typically not involved Congenital erythropoietic porphyria: rare autosomal recessive disease with mutation in uroporphyrinogen-III synthase gene, leading to porphyrin accumulation in many tissues with marked skin photosensitivity, hemolytic [pathologyoutlines.com]

  Chlorpromazine is helpful in potentiating these analgesics and in alleviating the psychiatric symptoms. [stmina-monastery.org]

  Patients present with abdominal pain, vomiting, gastrointestinal disorders, development seizures and psychiatric symptoms. 7, 11 Gender Absolute frequency Relative frequency (%) Male 113 26 Female 326 74 Table 1 Cases of porphyria by gender Type Mean [medcraveonline.com]

• Withdrawn

  The PFSNP and/or Information supplied on this Website may be withdrawn or amended at any time without advance notice at the discretion of NUS acting through its Department of Biochemistry. [pfs.nus.edu.sg]

• Seizure

  Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. [mendelian.co]

  Treatment of seizures in acute intermittent porphyria: safety and efficacy of gabapentin. Seizure 7: 415-416, 1998. 7. Harrison JC and McAuley FT. Propofol for sedation in intensive care in a patient with an acute porphyric attack. [pulmonarychronicles.com]

  […] had focal seizures and acute left hemiparesis. 22 Two young adults with severe HEP, aged 21 and 23 years, developed generalized seizures and had neuroimaging evidence of cerebral cortical atrophy and punctate calcifications in the frontal lobes, presumably [dx.doi.org]

  […] focal seizures and acute left hemiparesis. 22 Two young adults, ages 21 and 23 years, with severe HEP developed generalized seizures and had neuroimaging evidence of cerebral cortical atrophy and punctate calcifications in the frontal lobes, presumably [ncbi.nlm.nih.gov]

• Polyneuropathy

  Permanent residual deficits are not uncommon; residual defects during latent periods include polyneuropathy in both conditions, ataxia and retinitis pigmentosa with night blindness in Refsum disease, [7] and photosensitive dermatitis in porphyrias (rare [emedicine.medscape.com]

  The 5 P's : Painful abdomen, Polyneuropathy, Psychologic disturbances, Purple pee, Precipitated by triggers like drugs Erythropoietic porphyrias Congenital erythropoietic porphyria (Gunther disease) Epidemiology Very rare Severe Genetics Autosomal recessive [amboss.com]

  Arthralgia Arrhythmia Poikiloderma Melanoma Spasticity Abnormality of extrapyramidal motor function Thin skin Paralysis Pica Renal insufficiency Progressive Dysarthria Jaundice Erythema Tremor Hemolytic anemia Fever Developmental regression Myoclonus Polyneuropathy [mendelian.co]

  壊血病 scorbutus 核黄疸 Kernikterus (独), kernicterus, nuclear jaundice 家族性アミロイドーシス familial amyloidosis 家族性アミロイドポリニューロパチー familial amyloidotic polyneuropathy 家族性LCAT欠損症 familial lecithin cholesterol acyltransferase deficiency 家族性高コレステロール血症 familial hypercholesterolemia [jsge.or.jp]

  In rare cases, neurological symptoms such as progressive polyneuropathy have been reported. Treatment Options Treatment options are summarized in Table I. Table I. [dermatologyadvisor.com]

• Ataxia

  Top matches: Low match EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 Progressive myoclonic epilepsy-6 is an autosomal recessive neurologic disorder characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later [mendelian.co]

  Permanent residual deficits are not uncommon; residual defects during latent periods include polyneuropathy in both conditions, ataxia and retinitis pigmentosa with night blindness in Refsum disease, [7] and photosensitive dermatitis in porphyrias (rare [emedicine.medscape.com]

  遺伝性運動失調症 hereditary central nervous system demyelinating disease 遺伝性中枢神経系脱髄疾患 hereditary cerebellar ataxia 遺伝性小脳性運動失調 hereditary chorea 遺伝性舞踏病 hereditary coproporphyria 遺伝性コプロポルフィリン症 hereditary corneal dystrophy 遺伝性角膜ジストロフィー hereditary deafness 遺伝性難聴 [jpeds.or.jp]

• Cerebellar Ataxia

  遺伝性運動失調症 hereditary central nervous system demyelinating disease 遺伝性中枢神経系脱髄疾患 hereditary cerebellar ataxia 遺伝性小脳性運動失調 hereditary chorea 遺伝性舞踏病 hereditary coproporphyria 遺伝性コプロポルフィリン症 hereditary corneal dystrophy 遺伝性角膜ジストロフィー hereditary deafness 遺伝性難聴 [jpeds.or.jp]

• 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]

  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 red, itchy, blistered, painful and swollen skin and bloody (red) urine. The condition may develop during childhood. Different types of cutaneous porphyria include ‘porphyria cutanea tarda’ and ‘hepatoerythropoietic porphyria’. [betterhealth.vic.gov.au]

• Kidney Failure

  failure Liver problems, which may require a liver transplant in severe cases. [betterhealth.vic.gov.au]

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]

• Hyperuricemia

  Acidosis ( Metabolic, Respiratory, Lactic ) - Alkalosis ( Metabolic, Respiratory ) - Mixed disorder of acid-base balance - H 2 O Dehydration / Hypervolemia - K + Hypokalemia / Hyperkalemia - Cl − Hyperchloremia / Hypochloremia Purine and pyrimidine Hyperuricemia [wikidoc.org]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

The treatment of HEP is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [porphyriafoundation.org]

No specific treatment measures of Hepatoerythropoietic Porphyria are recognized, but symptomatic treatment is often provided that may include: Use of oral anti-malarial drug chloroquine (low-dose) may be effective in removing excess buildup of porphyrins [dovemed.com]

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]

Prognosis The long term prognosis is favorable. The documents contained in this web site are presented for information purposes only. [orpha.net]

What is the Prognosis of Hepatoerythropoietic Porphyria? (Outcomes/Resolutions) The prognosis of Hepatoerythropoietic Porphyria varies with the severity of the condition. [dovemed.com]

Diagnosis - Hepatoerythropoietic porphyria Prognosis - Hepatoerythropoietic porphyria Not supplied. [checkorphan.org]

[…] body diagrams and clinical photographs of each syndrome Bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, key features, differential diagnosis, laboratory findings, management, and prognosis [books.google.com]

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]

Phlebotomy Hydroxychloroquine or chloroquine References: [1] [2] [3] Acute intermittent porphyria (AIP) Epidemiology Second most common porphyria Peak incidence : ∼ 30 years Sex: ♀ > ♂ (2:1) Especially common in Great Britain and Scandinavian countries Etiology [amboss.com]

Erythroderma, Maculopapular The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. [healthdictionary.info]

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]

The 5 P's : Painful abdomen, Polyneuropathy, Psychologic disturbances, Purple pee, Precipitated by triggers like drugs Erythropoietic porphyrias Congenital erythropoietic porphyria (Gunther disease) Epidemiology Very rare Severe Genetics Autosomal recessive [amboss.com]

In 57 in-depth chapters they cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. [books.google.com]

Summary Epidemiology Fewer than 40 cases of HEP have been described. Clinical description The disease starts in childhood. [orpha.net]

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]

Epidemiology Erythrocyte protoporphyria is the more commonly occurring of the erythropoietic porphyrias and the estimated incidence of this condition is around 1 in between 50,000 to 75,000 people. [xpertdox.com]

In 57 in-depth chapters they cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. [books.google.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]

Pathophysiology As a result of the mutations describe above, EPP patients have a buildup of protoporphyrin. [dermatologyadvisor.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]

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]

Early diagnosis and appropriate management are important for preventing long-term disability and achieving good outcomes. [pulmonarychronicles.com]

What treatment and prevention are available? To date, there is no cure for any of the porphyrias. Treatment and prevention depends on the type of porphyria. [porphyriafoundation.blogspot.com]