Hepatic Porphyrias (Hepatic Porphyria)

A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.

Also Known As:

Networked: 284 relevant articles (10 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Porphyrias
2.	Hepatic Porphyrias (Hepatic Porphyria)
3.	Acute Intermittent Porphyria (Porphyria, Acute)
4.	Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
5.	Abdominal Pain (Pain, Abdominal)

Experts

1.	Desnick, Robert J: 7 articles (01/2015 - 01/2010)
2.	Doss, M O: 4 articles (12/2010 - 03/2000)
3.	Bonkovsky, Herbert L: 3 articles (09/2015 - 01/2005)
4.	Gan, Lin: 3 articles (01/2015 - 01/2010)
5.	Yasuda, Makiko: 3 articles (01/2015 - 01/2010)
6.	Balwani, Manisha: 3 articles (11/2012 - 02/2011)
7.	Mazzetti, Marta B: 3 articles (11/2011 - 12/2005)
8.	San Martín de Viale, Leonor C: 3 articles (11/2011 - 12/2005)
9.	Bishop, David F: 3 articles (02/2011 - 01/2010)
10.	Correia, Maria Almira: 3 articles (04/2010 - 07/2005)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hepatic Porphyrias:

1.	Heme (Haem)IBA 05/22/1984 - "The simple in vitro method used in the present work promises to be a very useful tool for studies of regulatory mechanisms of porphyrin and heme biosynthesis in hepatocytes under normal and pathological conditions (hepatic porphyrias)." 01/01/2015 - "The acute hepatic porphyrias are caused by inherited enzymatic deficiencies in the heme biosynthesis pathway. " 05/27/2014 - "The acute hepatic porphyrias are inherited disorders of heme biosynthesis characterized by life-threatening acute neurovisceral attacks. " 11/01/2005 - "It is suggested that diseases caused by relative heme deficiency, such as hepatic porphyrias, may lead to impaired hemoprotein function in brain." 08/26/2005 - "These data show that PGC-1alpha links nutritional status to heme biosynthesis and acute hepatic porphyria."
2.	tin protoporphyrin IXIBA 12/01/1985 - "Sn-protoporphyrin suppresses chemically induced experimental hepatic porphyria. " 08/01/1993 - "Tin protoporphyrin prolongs the biochemical remission produced by heme arginate in acute hepatic porphyria." 07/27/1991 - "Haem-arginate plus tin-protoporphyrin for acute hepatic porphyria." 06/01/1989 - "Administration of both tin-protoporphyrin and tin-mesoporphyrin resulted in decreases in the urinary excretion of heme pathway intermediates in stable hyperexcreters with acute hepatic porphyria." 12/01/1985 - "These findings in a rat model of hepatic porphyria suggest that Sn-protoporphyrin may be useful in the treatment of acute exacerbations of "inducible" hepatic porphyrias in man, especially since Sn-protoporphyrin, unlike hematin which is presently used for this purpose, is neither degraded by nor induces the activity of heme oxygenase."
3.	heme arginateIBA 06/10/1989 - "Controlled trial of haem arginate in acute hepatic porphyria." 01/01/1993 - "[Acute attacks of hepatic porphyria: specific treatment with heme arginate]." 11/21/1987 - "The effect of haem arginate on porphyrin metabolism and haemoprotein function was studied during seven attacks of acute hepatic porphyria in 5 patients. " 11/21/1987 - "Effect of haem arginate therapy on porphyrin metabolism and mixed function oxygenase activity in acute hepatic porphyria." 10/25/1986 - "Haem arginate in acute hepatic porphyrias."
4.	Glucose (Dextrose)FDA LinkGeneric 11/28/2011 - "This might be the mechanism underlying the "glucose effect" observed in hepatic porphyrias. " 09/01/1985 - ""Glucose effect" and rate limiting function of uroporphyrinogen synthase on porphyrin metabolism in hepatocyte culture: relationship with human acute hepatic porphyrias." 07/01/1981 - "The "glucose effect" in acute hepatic porphyrias and in experimental porphyria." 12/01/2005 - "Based on these results, we can speculate that the alterations observed in glucose metabolism enzymes could be partly related to the damage caused by ROS on their enzymatic protein structures, suggesting that they could be also linked to the beneficial role of glucose administration in acute hepatic porphyria cases." 11/10/1981 - "These data may be relevant for the treatment with glucose and heme of patients with "inducible" hepatic porphyria."
5.	zinc mesoporphyrinIBA 05/01/2001 - "We conclude that the combined effect of ZnMP on highly induced ALAS and on HO may be of potential benefit for human acute hepatic porphyrias and therefore merits further in vivo investigations addressing questions raised by this study." 05/01/2001 - "Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria."
6.	Hemin (Panhematin)FDA Link 01/01/1989 - "[Treatment of acute attacks of hepatic porphyrias with hematin]." 02/01/1988 - "Treatment of acute hepatic porphyria with hematin." 10/04/1986 - "Provided it is administered early, before neurological complications develop, treatment with hematin completely relieves abdominal symptoms and suppresses most of the biochemical changes associated with hepatic porphyria." 07/24/1986 - "Instability of hematin used in the treatment of acute hepatic porphyria." 09/01/1979 - "[Hematin in the treatment of acute hepatic porphyrias]."
7.	Heme Oxygenase (Decyclizing) (Heme Oxygenase)IBA 06/01/1989 - "These include competitive inhibition of heme oxygenase, amelioration of jaundice and suppression of chemically induced hepatic porphyria. " 05/01/2001 - "Zinc mesoporphyrin represses induced hepatic 5-aminolevulinic acid synthase and reduces heme oxygenase activity in a mouse model of acute hepatic porphyria." 05/01/1998 - "Stimulation of liver heme oxygenase in hexachlorobenzene-induced hepatic porphyria." 12/01/1985 - "These findings in a rat model of hepatic porphyria suggest that Sn-protoporphyrin may be useful in the treatment of acute exacerbations of "inducible" hepatic porphyrias in man, especially since Sn-protoporphyrin, unlike hematin which is presently used for this purpose, is neither degraded by nor induces the activity of heme oxygenase."
8.	HormonesIBA 03/01/2007 - "To remind physicians to consider the hepatic porphyrias in the differential diagnosis of the syndrome of inappropriate antidiuretic hormone secretion. " 08/01/1995 - "Furthermore it could be shown that three females with repeated premenstrual clinical expression of an acute hepatic porphyria (acute intermittent porphyria and hereditary coproporphyria) could be treated successfully with a hormonal oral contraceptive or other exogenous hormones to stabilize the latent, subclinical phase of the disease. " 04/01/1983 - "We tested the hypothesis that the hyponatremia commonly observed in patients with acute hepatic porphyria is mediated by the presence of aminolaevulinic acid (ALA) and (or) porphobilinogen (PBG) at the level of the renal tubule to alter water handling, or at the level of the nervous system to release antidiuretic hormone (ADH). "
9.	RNA (Ribonucleic Acid)IBA 01/01/2015 - "Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification." 07/26/1996 - "[Detection of HCV RNA in anti-HCV positive patients with chronic hepatic porphyria]."
10.	Chloroquine (Aralen)FDA LinkGeneric 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." 06/01/1982 - "[The effect of chloroquine therapy on the level of porphyrins in the liver in symptomatic hepatic porphyria]."

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) 01/16/2004 - "We reviewed the treatment of epilepsy in groups of patients with the following characteristics: mental disability, cardiovascular disease, respiratory disease, liver failure, hepatic porphyrias, liver transplant, kidney failure, haemodialysis, kidney transplant, infectious diseases, acquired immunodeficiency syndrome, diseases of the digestive tract, endocrine diseases, preventive antiepileptic therapy, and surgical diseases. " 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.	Erythrocyte Transfusion 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. "
4.	Anesthesia 05/01/1992 - "[Anesthesia and acute hepatic porphyrias]." 01/01/1989 - "[Anesthesia and hepatic porphyria]."
5.	Liver Transplantation 12/01/2010 - "Ultimately, liver transplantation may be considered in therapy-resistant cases of acute hepatic porphyrias and bone marrow transplantation in severe cases of erythropoietic porphyrias."