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Erythropoietic Protoporphyria

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An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces.

Also Known As:

Protoporphyria, Erythropoietic; Ferrochelatase Deficiency; Heme Synthetase Deficiency; Deficiencies, Ferrochelatase; Deficiencies, Heme Synthetase; Deficiency, Ferrochelatase; Deficiency, Heme Synthetase; Erythropoietic Protoporphyrias; Ferrochelatase Deficiencies; Heme Synthetase Deficiencies; Protoporphyrias, Erythropoietic; Synthetase Deficiencies, Heme; Synthetase Deficiency, Heme

Networked: 377 relevant articles (15 outcomes, 22 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Porphyrias
2.	Porphyria Cutanea Tarda
3.	Acute Intermittent Porphyria (Porphyria, Acute)
4.	Liver Diseases (Liver Disease)
5.	Hepatic Porphyrias (Hepatic Porphyria)

Experts

1.	Minder, Elisabeth I: 11 articles (01/2015 - 05/2003)
2.	Deybach, Jean-Charles: 9 articles (07/2015 - 01/2002)
3.	Schneider-Yin, X: 9 articles (06/2015 - 08/2000)
4.	Elder, G H: 9 articles (03/2010 - 12/2001)
5.	Bloomer, Joseph R: 8 articles (12/2015 - 03/2002)
6.	Minder, E I: 7 articles (06/2015 - 10/2000)
7.	Gouya, L: 7 articles (10/2010 - 08/2000)
8.	Bonkovsky, Herbert L: 6 articles (12/2015 - 02/2002)
9.	Gouya, Laurent: 6 articles (01/2015 - 01/2002)
10.	Schneider-Yin, Xiaoye: 6 articles (01/2015 - 05/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Erythropoietic Protoporphyria:

1.	beta Carotene (Betacarotene)FDA Link 09/01/2004 - "High-dose beta-carotene appears to provide photoprotection in erythropoietic protoporphyria, resulting in improved but highly variable tolerance to sunlight." 01/01/2003 - "The only systemic medication for sun protection is beta-carotene, which is effective in erythropoietic protoporphyria (EPP)." 12/01/1977 - "The efficacy of oral beta-carotene for the prevention of photosensitivity symptoms in erythropoietic protoporphyria was studied in a controlled cross-over trial in which it was compared with a placebo. " 12/01/1977 - "The long term treatment with beta-carotene in erythropoietic protoporphyria: a controlled trial." 12/01/2008 - "Beta-carotene should be used in erythropoietic protoporphyria, photosensitive diseases, and to reduce the effects of phototoxic drugs. "
2.	afamelanotideIBA 06/01/2015 - "Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria." 03/05/2013 - "In a recent trial, afamelanotide administered as controlled release implants protected erythropoietic protoporphyria (EPP) patients from sunlight induced phototoxic skin reactions. " 07/02/2015 - "Afamelanotide for Erythropoietic Protoporphyria." 07/01/2013 - "Currently, afamelanotide is already on the market in Italy and Switzerland for patients with erythropoietic protoporphyria. " 07/02/2015 - "Afamelanotide had an acceptable side-effect and adverse-event profile and was associated with an increased duration of sun exposure without pain and improved quality of life in patients with erythropoietic protoporphyria. "
3.	Cysteine (L-Cysteine)FDA Link 12/01/2002 - "A Phase III 3 year placebo-controlled trial, in which patients were blinded as to when placebo was given, was conducted to determine if the administration of L-cysteine-HCl was effective in preventing or ameliorating the photosensitivity associated with erythropoietic protoporphyria. " 10/01/1993 - "Cysteine ameliorates photosensitivity in erythropoietic protoporphyria." 12/01/1994 - "In an open trial in 9 patients, we found that the ingestion of 500 mg of cysteine twice a day could prevent or lessen the photosensitivity associated with erythropoietic protoporphyria (EPP). " 12/01/2002 - "Long-term treatment of erythropoietic protoporphyria with cysteine." 12/01/1994 - "A double-blind study of cysteine photoprotection in erythropoietic protoporphyria."
4.	AntioxidantsIBA 01/01/2000 - "Erythropoietic protoporphyria: treatment with antioxidants and potential cure with gene therapy." 12/31/2001 - "Our results suggest that the treatment of porphyria cutanea tarda and erythropoietic protoporphyria may be improved by the use of a combination of the antioxidants studied."
5.	Cholestyramine Resin (Questran)FDA LinkGeneric 12/01/2012 - "Oral cholestyramine is not an effective treatment for uncomplicated erythropoietic protoporphyria." 03/01/2010 - "Cholestyramine resin for erythropoietic protoporphyria with severe hepatic disease: a case report." 01/16/1995 - "Cholestyramine orally administered to patients with erythropoietic protoporphyria results in urinary excretion of protoporphyrin: to be explained by the Herbst-Volkheimer effect?" 01/01/1988 - "The effect of cholestyramine and bile acid feeding upon fecal, red blood cell, and plasma protoporphyrin levels was evaluated in a patient with erythropoietic protoporphyria and evidence of hepatic damage. " 01/01/1988 - "Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding."
6.	IronIBA 10/01/2013 - "Clinical and biochemical improvement following low-dose intravenous iron therapy in a patient with erythropoietic protoporphyria." 12/01/2007 - "Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria." 06/01/2007 - "Symptomatic response of erythropoietic protoporphyria to iron supplementation." 02/01/1993 - "We have studied the iron metabolism in nine patients with erythropoietic protoporphyria (EPP) and three patients with sideroblastic anaemia (SA). " 02/01/1993 - "Accumulation of iron in erythroblasts of patients with erythropoietic protoporphyria."
7.	Hemoglobins (Hemoglobin)IBA 08/01/1977 - "The opposite rapid efflux of intra-erythrocytic protoporphyrin into plasma previously shown in uncomplicated erythropoietic protoporphyria occurs despite this strong hemoglobin affinity, implying continuous efficient clearance of protoporphyrin from plasma by the liver. " 05/01/1993 - "We conclude that hemoglobin function in erythropoietic protoporphyria patients is altered, but without pathophysiologic consequences. " 05/01/1993 - "Whole blood and hemolysates from seven normal and three erythropoietic protoporphyria patients were compared in terms of their hemoglobin function. " 09/01/1982 - "Erythrocytes in patients with erythropoietic protoporphyria contain large amounts of protoporphyrin bound to hemoglobin. " 01/01/1977 - "Virtually all protoporphyrin in erythrocytes of patients with erythropoietic protoporphyria is bound to hemoglobin. "
8.	Melanocyte-Stimulating Hormones (MSH)IBA 04/01/2015 - "An α-MSH analog in erythropoietic protoporphyria." 02/01/2012 - "Synthetic MSH analogues thus may represent a new promising therapeutic option for photodermatoses especially for erythropoietic protoporphyria." 01/01/2015 - "Afamelanotide is an α-melanocyte-stimulating hormone (α-MSH) agonist with proven efficacy in photodermatoses such as erythropoietic protoporphyria (EPP). " 01/01/2014 - "Short sequence oligopeptides with tyrosinase inhibitory activity that can significantly reduce hyperpigmentation, as well α-MSH analogs that can enhance eumelanogenesis, are currently being clinically tested for treatment of erythropoietic protoporphyria, polymorphous light eruption, solar urticaria, actinic keratosis, and "sunless tanning". " 01/01/2015 - "Evaluation of the immunogenicity of the synthetic α-melanocyte-stimulating hormone (α-MSH) analogue afamelanotide ([Nle4-D-Phe7]-α-MSH, Scenesse®) in erythropoietic protoporphyria patients by ELISA detecting both anti-afamelanotide and anti-α-MSH antibodies."
9.	zinc protoporphyrinIBA 10/01/1983 - "In vivo albumin is present in the plasma and the results may help to explain why patients with erythropoietic protoporphyria (erythrocytes containing free protoporphyrin) are photosensitive, whereas patients with lead intoxication and iron deficiency (erythrocytes containing zinc protoporphyrin) are not." 12/01/2015 - "Laboratory diagnosis of erythropoietic protoporphyria (EPP) requires a marked increase in total erythrocyte protoporphyrin (300-5000 μg/dL erythrocytes, reference interval <80 μg/dL) and a predominance (85%-100%) of metal-free protoporphyrin [normal, mostly zinc protoporphyrin (reference intervals for the zinc protoporphyrin proportion have not been established)]; plasma porphyrins are not always increased. " 05/01/1998 - "Protoporphyrin and zinc-protoporphyrin were measured in the erythrocytes of normal subjects, workers exposed to lead and patients with iron deficiency and erythropoietic protoporphyria (EPP). " 02/21/1989 - "In erythropoietic protoporphyria and lead poisoning, free protoporphyrin (PPIX) and zinc protoporphyrin (ZPP), respectively, accumulate in erythrocytes. "
10.	HormonesIBA 12/01/2010 - "Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria." 01/01/2015 - "Afamelanotide is an α-melanocyte-stimulating hormone (α-MSH) agonist with proven efficacy in photodermatoses such as erythropoietic protoporphyria (EPP). " 03/05/2013 - "A bioassay for the detection of neutralizing antibodies against the α-melanocyte stimulating hormone analog afamelanotide in patients with erythropoietic protoporphyria." 01/01/2015 - "Evaluation of the immunogenicity of the synthetic α-melanocyte-stimulating hormone (α-MSH) analogue afamelanotide ([Nle4-D-Phe7]-α-MSH, Scenesse®) in erythropoietic protoporphyria patients by ELISA detecting both anti-afamelanotide and anti-α-MSH antibodies."

Therapies and Procedures

1.	Splenectomy 12/01/1979 - "Cutaneous hepatic porphyria may be treated by venesection, erythropoietic protoporphyria with beta caratene whilst congenital porphyria may be improved by splenectomy and chloroquine therapy."
2.	Transplants (Transplant) 12/01/2006 - "This combination corrected the severe phenotype, resolving the severe photosensitivity and halting erythropoietic protoporphyria associated liver graft injury. " 07/01/2013 - "Afamelanotide is currently undergoing phase II and III trials in Europe and the US for skin diseases including vitiligo, erythropoietic protoporphyria, polymorphic light eruption and prevention of actinic keratoses in organ transplant recipients. " 11/29/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. " 01/01/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. "
3.	Liver Transplantation 09/01/2011 - "Liver transplantation for erythropoietic protoporphyria in Europe." 04/01/2011 - "UK experience of liver transplantation for erythropoietic protoporphyria." 05/01/2003 - "A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters." 12/01/2000 - "Liver transplantation for erythropoietic protoporphyria: report of a case with medium-term follow-up." 04/01/1999 - "Long-term follow-up after liver transplantation for erythropoietic protoporphyria."
4.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/01/2014 - "Erythropoietic protoporphyria patients needing LT should be considered for bone marrow transplantation to achieve cure. " 12/27/2009 - "Bone marrow transplantation can reverse hepatic protoporphyrin accumulation and prevent the hepatobiliary complications characteristic of erythropoietic protoporphyria. " 12/01/2006 - "Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria." 07/01/2000 - "Reversion of hepatobiliary alterations By bone marrow transplantation in a murine model of erythropoietic protoporphyria." 07/01/2011 - "Neonatal bone marrow transplantation prevents liver disease in a murine model of erythropoietic protoporphyria."
5.	Erythrocyte Transfusion 11/01/1983 - "Five patients with erythropoietic protoporphyria, in whom beta-carotene treatment had proved unsuccessful, were treated on 5 or 6 occasions with washed, packed red blood cell transfusions. " 11/29/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. " 01/01/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. "