411 results match your criteria Variegate Porphyria


Hyperhomocysteinemia in patients with acute porphyrias: A potentially dangerous metabolic crossroad?

Eur J Intern Med 2020 May 31. Epub 2020 May 31.

Unit of Internal Medicine, Department of Medical and Surgical Science for Children and Adults, University of Modena and Reggio Emilia, Italy.

Background: Acute porphyrias (AP) are characterized by heme deficiency and induction of hepatic 5-aminolevulinate synthase (ALAS1). Hyperhomocysteinemia (HHcy) is associated with endothelial damage, neurotoxicity and increased risk for vascular diseases. Interestingly, both heme biosynthesis and sulphur amino acid metabolism require vitamin B6, (Pyridoxal-phosphate, PLP) an important cofactor of ALAS1 and of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CGL) enzymes that catabolize homocysteine (Hcy). Read More

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http://dx.doi.org/10.1016/j.ejim.2020.04.002DOI Listing

Two new mutations in the PPOX gene in a patient with variegate porphyria.

J Dtsch Dermatol Ges 2020 Apr 4;18(4):381-383. Epub 2020 Apr 4.

Servicio de Inmunología, Unidad de Gestión Clínica de Hematología, Inmunología y Genética, Hospital Universitario Puerta del Mar, Cádiz, Spain.

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http://dx.doi.org/10.1111/ddg.14079DOI Listing

Sick leave, disability, and mortality in acute hepatic porphyria: a nationwide cohort study.

Orphanet J Rare Dis 2020 Feb 21;15(1):56. Epub 2020 Feb 21.

Norwegian Organisation for Quality Improvement of Laboratory Examinations (NOKLUS), Haraldsplass Deaconess Hospital, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) consists of three rare metabolic disorders. We investigated the risk of long-term sick leave, disability pension, and premature death in individuals with AHP compared to the general population.

Methods: In a nationwide cohort study from 1992 to 2017, records of 333 persons (total person-years = 6728) with a confirmed AHP diagnosis were linked to several national compulsory registries (reference population = 5,819,937). Read More

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http://dx.doi.org/10.1186/s13023-019-1273-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7035738PMC
February 2020

Penetrance and predictive value of genetic screening in acute porphyria.

Mol Genet Metab 2020 May 10;130(1):87-99. Epub 2020 Feb 10.

Helsinki University Hospital, Department of Medicine, Finland. Electronic address:

Objective: Penetrance, predictive value and female patients' perspectives on genetic testing were evaluated among Finnish patients with acute porphyria. We conducted a retrospective study to evaluate prognosis among at-risk female family members depending on the primary method of diagnosis.

Methods: The penetrance was calculated among 23 genetically heterogeneous families selected from the Finnish porphyria registry (n = 515, AIP 333; VP 182). Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.02.003DOI Listing

Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families.

Ann Hematol 2019 Dec 19;98(12):2683-2691. Epub 2019 Nov 19.

EPNET Clinical Center Munich, Hematology Oncology Center and Ludwig Maximilians University Munich, Zweibrückenstr.2, 80331, Munich, Germany.

In Germany, analyses of clinical and laboratory features of patients with acute porphyrias are only available for hereditary coproporphyria (HCP) but not with other acute porphyrias, acute intermittent porphyria (AIP) and variegate porphyria (VP). The aim of the study was to analyze a large cohort of patients with particular focus upon quality of life aspects. Sixty-two individuals from separate families with acute porphyrias (57 AIP, 5 VP) were included into an observational study collecting biochemical, genetic, and clinical data. Read More

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http://dx.doi.org/10.1007/s00277-019-03831-7DOI Listing
December 2019

Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction.

Mol Genet Metab 2019 11 1;128(3):242-253. Epub 2019 Nov 1.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, United States of America.. Electronic address:

Background And Aim: An association between neuropsychiatric manifestations and neuroimaging suggestive of posterior reversible encephalopathy syndrome (PRES) during porphyric attacks has been described in numerous case reports. We aimed to systematically review clinical-radiological features and likely pathogenic mechanisms of PRES in patients with acute hepatic porphyrias (AHP) and porphyric attacks.

Methods: PubMed, Scopus, Ovid MEDLINE, and Google Scholar were searched (July 30, 2019). Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.10.011DOI Listing
November 2019

Neurological and neuropsychiatric manifestations of porphyria.

Int J Neurosci 2019 Dec 1;129(12):1226-1233. Epub 2019 Sep 1.

Department of Physiology and Biophysics, Stony Brook University Renaissance School of Medicine , New York , NY , USA.

Porphyrias are inherited disorders of the heme biosynthetic pathway, usually characterized by dermatological changes due to the accumulation of byproducts in the pathway. Select porphyrias also affect the nervous system, namely hereditary coproporphyria, acute intermittent porphyria and variegate porphyria. Complications include paralysis, hyponatremia which can risk central pontine myelinolysis, seizures and coma. Read More

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https://www.tandfonline.com/doi/full/10.1080/00207454.2019.1
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http://dx.doi.org/10.1080/00207454.2019.1655014DOI Listing
December 2019
4 Reads
1.528 Impact Factor

Heme biosynthesis and the porphyrias.

Authors:
John D Phillips

Mol Genet Metab 2019 11 22;128(3):164-177. Epub 2019 Apr 22.

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates. Phenotypically, each disease leads to either neurologic and/or photocutaneous symptoms based on the metabolic intermediate that accumulates. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252266PMC
November 2019
7 Reads

Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study.

J Eur Acad Dermatol Venereol 2020 Jan 16;34(1):184-187. Epub 2019 Jul 16.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background: From a dermatologist's perspective, there are four major types of cutaneous porphyrias (CPs): porphyria cutanea tarda (PCT), erythropoietic protoporphyria (EPP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Scarce data are available regarding the epidemiology of CPs.

Objectives: To describe the epidemiology of CPs in Israel, including distribution, incidence and prevalence rates of major types. Read More

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http://dx.doi.org/10.1111/jdv.15769DOI Listing
January 2020
10 Reads

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.

Scand J Clin Lab Invest 2019 Sep 1;79(5):305-313. Epub 2019 Jun 1.

a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.

Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, , and for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). To validate the AHP panel, 30 samples with known pathogenic variants as determined by Sanger sequencing, were analyzed using the Ion PGM™. Read More

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http://dx.doi.org/10.1080/00365513.2019.1622030DOI Listing
September 2019
28 Reads
2.009 Impact Factor

Not Your Ordinary Rash.

Clin Chem 2019 06;65(6):733-737

Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH;

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http://www.clinchem.org/lookup/doi/10.1373/clinchem.2018.291
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http://dx.doi.org/10.1373/clinchem.2018.291344DOI Listing
June 2019
2 Reads

Clinical Guide and Update on Porphyrias.

Gastroenterology 2019 08 11;157(2):365-381.e4. Epub 2019 May 11.

Institute of Translational Immunology and Research Center for Immune Therapy, University Medical Center, Johannes Gutenberg University, Mainz, Germany; Division of Gastroenterology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts. Electronic address:

Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed. They are caused by well-characterized enzyme defects in the complex heme biosynthetic pathway and are divided into categories of acute vs non-acute or hepatic vs erythropoietic porphyrias. Read More

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http://dx.doi.org/10.1053/j.gastro.2019.04.050DOI Listing
August 2019
14 Reads

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Genet Med 2019 11 10;21(11):2605-2613. Epub 2019 May 10.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.

With the advent of precision and genomic medicine, a critical issue is whether a disease gene variant is pathogenic or benign. Such is the case for the three autosomal dominant acute hepatic porphyrias (AHPs), including acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria, each resulting from the half-normal enzymatic activities of hydroxymethylbilane synthase, coproporphyrinogen oxidase, and protoporphyrinogen oxidase, respectively. To date, there is no public database that documents the likely pathogenicity of variants causing the porphyrias, and more specifically, the AHPs with biochemically and clinically verified information. Read More

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http://dx.doi.org/10.1038/s41436-019-0537-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229570PMC
November 2019
14 Reads

Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs).

Mol Genet Metab 2019 11 6;128(3):213-218. Epub 2019 Mar 6.

Section on Gastroenterology & Hepatology, Wake Forest University School of Medicine/NC Baptist Hospital, Winston-Salem, NC 27157, United States of America.

The acute hepatic porphyrias include four disorders: acute intermittent porphyria [AIP], hereditary coproporphyria [HCP], variegate porphyria [VP], and the rare porphyria due to severe deficiency of ALA dehydratase [ADP]. In the USA, AIP is the most severe and most often symptomatic. AIP, HCP, and VP are due to autosomal dominant genetic abnormalities, in which missense, nonsense, or other mutations of genes of normal hepatic heme biosynthesis, in concert with other environmental, nutritional, hormonal and genetic factors, may lead to a critical deficiency of heme, the end-product of the pathway, in a small but critical 'regulatory pool' within hepatocytes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193008
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http://dx.doi.org/10.1016/j.ymgme.2019.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754303PMC
November 2019
18 Reads

[A case report of variegate porphyria maenisfeseting as phototoxicity].

Zhonghua Nei Ke Za Zhi 2019 Apr;58(4):311-314

Department of Endocrinology, The Second Hospital of Hebei Medical University, Shijiazhuang 050000, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.04.015DOI Listing
April 2019
10 Reads

Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family.

Clin Exp Dermatol 2020 Jan 12;45(1):117-119. Epub 2019 Mar 12.

Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.1111/ced.13948DOI Listing
January 2020

Acute Hepatic Porphyrias: Review and Recent Progress.

Hepatol Commun 2019 Feb 20;3(2):193-206. Epub 2018 Dec 20.

Section of Gastroenterology and Hepatology, Department of Internal Medicine Wake Forest University School of Medicine Winston-Salem NC.

The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms. The four types are 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Their diagnoses are often missed or delayed because the clinical symptoms mimic other more common disorders. Read More

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http://dx.doi.org/10.1002/hep4.1297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6357830PMC
February 2019
21 Reads

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Mol Genet Metab 2019 11 18;128(3):332-341. Epub 2019 Jan 18.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address:

Mouse models of the human porphyrias have proven useful for investigations of disease pathogenesis and to facilitate the development of new therapeutic approaches. To date, mouse models have been generated for all major porphyrias, with the exception of X-linked protoporphyria (XLP) and the ultra rare 5-aminolevulinic acid dehydratase deficient porphyria (ADP). Mouse models have been generated for the three autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639143PMC
November 2019
16 Reads

Nonconvulsive status epilepticus secondary to acute porphyria crisis.

Epilepsy Behav Case Rep 2019 28;11:43-46. Epub 2018 Nov 28.

Department of Neurology, Mayo Clinic, 5777 East Mayo Boulevard, Phoenix, AZ 85054, USA.

Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic-clonic and focal impaired awareness seizures. Convulsive status epilepticus and epilepsia partialis continua are rare and have been described on a case report basis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22133232183012
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http://dx.doi.org/10.1016/j.ebcr.2018.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327909PMC
November 2018
51 Reads

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Mol Genet Metab 2019 11 30;128(3):320-331. Epub 2018 Nov 30.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States. Electronic address:

The inborn errors of heme biosynthesis, the Porphyrias, include eight major disorders resulting from loss-of-function (LOF) or gain-of-function (GOF) mutations in eight of the nine heme biosynthetic genes. The major sites of heme biosynthesis are the liver and erythron, and the underlying pathophysiology of each of these disorders depends on the unique biochemistry, cell biology, and genetic mechanisms in these tissues. The porphyrias are classified into three major categories: 1) the acute hepatic porphyrias (AHPs), including Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP), and 5-Aminolevlulinic Acid Dehydratase Deficient Porphyria (ADP); 2) a hepatic cutaneous porphyria, Porphyria Cutanea Tarda (PCT); and 3) the cutaneous erythropoietic porphyrias, Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-Linked Protoporphyria (XLP). Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.11.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6542720PMC
November 2019
19 Reads

Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report.

Cureus 2018 Sep 24;10(9):e3351. Epub 2018 Sep 24.

Orthopaedics, Dow University of Health Sciences, Karachi, PAK.

Variegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria. Read More

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http://dx.doi.org/10.7759/cureus.3351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255715PMC
September 2018
12 Reads

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Eur J Med Genet 2019 Dec 23;62(12):103589. Epub 2018 Nov 23.

Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain. Electronic address:

Porphyrias are rare diseases caused by alterations in the heme biosynthetic pathway. Depending on the afected enzyme, porphyrin precursors or porphyrins are overproduced, causing acute neurovisceral attacks or dermal photosensitivity, respectively. Hereditary Coproporphyria (HCP) and Variegate Porphyria (VP) are mixed porphyrias since they can present acute and/or cutaneous symptoms. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.023DOI Listing
December 2019
9 Reads

Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword.

Mol Genet Metab 2019 11 9;128(3):236-241. Epub 2018 Oct 9.

UMRs 1149, Centre de Recherche sur l'Inflammation, Institut National de la Santé et de la Recherche Médicale, F-75018 Paris, France; Assistance Publique-Hôpitaux de Paris, HUPNVS Centre Français des Porphyries, Hôpital Louis Mourier, 178 Rue des Renouillers, F-92701 Colombes, France; Laboratory of Excellence Gr-Ex, France; Université Paris Diderot, UFR de Médecine Xavier Bichat, F-75018 Paris, France.

Porphyrias are inherited diseases with low penetrance affecting the heme biosynthesis pathway. Acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP) together constitute the acute hepatic porphyrias (AHP). These diseases have been identified as risk factors for primary liver cancers (PLC), mainly hepatocellular carcinoma (HCC: range 87-100%) but also cholangiocarcinoma, alone or combination with HCC. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.001DOI Listing
November 2019
18 Reads
2.625 Impact Factor

Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations.

Mol Genet Metab 2019 11 26;128(3):352-357. Epub 2018 Oct 26.

Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY 10029, USA. Electronic address:

The acute hepatic porphyrias (AHPs) are inborn errors of heme biosynthesis, which include three autosomal dominant porphyrias, Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), and Variegate Porphyria (VP), and the ultra-rare autosomal recessive porphyria, δ-Aminolevulinic Acid Dehydratase Deficiency Porphyria (ADP). AIP, HCP, VP, and ADP each results from loss-of-function (LOF) mutations in their disease-causing genes: hydroxymethylbilane synthase (HMBS); coproporphyrinogen oxidase (CPOX); protoporphyrinogen oxidase (PPOX), and δ-aminolevulinic acid dehydratase (ALAD), respectively. During the 11-year period from January 1, 2007 through December 31, 2017, the Mount Sinai Porphyrias Diagnostic Laboratory diagnosed 315 unrelated AIP individuals with HMBS mutations, including 46 previously unreported mutations, 29 unrelated HCP individuals with CPOX mutations, including 11 previously unreported mutations, and 54 unrelated VP individuals with PPOX mutations, including 20 previously unreported mutations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183048
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http://dx.doi.org/10.1016/j.ymgme.2018.10.008DOI Listing
November 2019
59 Reads

Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria.

JA Clin Rep 2018 Jun 18;4(1):49. Epub 2018 Jun 18.

Department of Anesthesiology, Shizuoka General Hospital, 4-27-1 Kita-Ando, Aoi-Ku, Shizuoka, 420-8527, Japan.

Background: Variegate porphyria (VP) is an inherited type of porphyria characterized by cutaneous manifestations and/or acute neurovisceral attacks. We report successful anesthetic management of VP.

Case Presentation: A 66-year-old woman with VP was scheduled to undergo distal pancreatectomy for pancreatic cancer. Read More

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http://dx.doi.org/10.1186/s40981-018-0187-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6967284PMC

Porphyria: What Is It and Who Should Be Evaluated?

Rambam Maimonides Med J 2018 04 19;9(2). Epub 2018 Apr 19.

Porphyria Center, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.

The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme. Neurovisceral porphyrias are characterized by acute attacks, in which excessive heme production is induced following exposure to a trigger. An acute attack usually presents with severe abdominal pain, vomiting, and tachycardia. Read More

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http://dx.doi.org/10.5041/RMMJ.10333DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916231PMC
April 2018
17 Reads

An unusual diagnosis in a 31-year-old man with abdominal pain and hyponatremia.

Intern Emerg Med 2018 Dec 17;13(8):1233-1238. Epub 2018 Mar 17.

Medicina Interna, Dipartimento di Scienze Cliniche e Comunità, Università degli Studi di Milano, Ospedale Maggiore Policlinico, Fondazione IRCCS Ca' Granda, Milan, Italy.

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http://link.springer.com/10.1007/s11739-018-1826-x
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http://dx.doi.org/10.1007/s11739-018-1826-xDOI Listing
December 2018
14 Reads

Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis.

Endocrine 2018 09 7;61(3):403-406. Epub 2018 Mar 7.

Department of Clinical and Biological Sciences, Internal Medicine, San Luigi Gonzaga Hospital, Orbassano, University of Turin, Torino, Italy.

Purpose: Acute porphyrias are metabolic disorders of heme biosynthesis characterized by acute life-threatening attacks. The diagnosis is often missed since clinical presentation is aspecific mimicking other medical and surgical conditions. Variegate porphyria (VP) is an autosomal dominant inherited disease with incomplete penetrance due to decreased activity of the Protoporphyrinogen Oxydase (PPOX) gene; most VP mutations are family specific. Read More

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http://dx.doi.org/10.1007/s12020-018-1569-5DOI Listing
September 2018
21 Reads

An overview of the cutaneous porphyrias.

Authors:
Robert Dawe

F1000Res 2017 30;6:1906. Epub 2017 Oct 30.

Scottish Cutaneous Porphyria Service, Scottish Photodiagnostic Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, DD1 9SY, UK.

This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature. The cutaneous porphyrias are a diverse group of conditions due to inherited or acquired enzyme defects in the porphyrin-haem biosynthetic pathway. Read More

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http://dx.doi.org/10.12688/f1000research.10101.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664971PMC
October 2017
32 Reads

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Int J Dermatol 2017 Dec;56(12):1406-1413

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

Background: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study.

Methods: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. Read More

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http://dx.doi.org/10.1111/ijd.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6094939PMC
December 2017
85 Reads
1.227 Impact Factor

Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria.

J Dermatol 2017 Dec 22;44(12):e317-e318. Epub 2017 Jul 22.

Department of Dermatology, Rui Jin Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

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http://doi.wiley.com/10.1111/1346-8138.13982
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http://dx.doi.org/10.1111/1346-8138.13982DOI Listing
December 2017
17 Reads

Acute hepatic porphyria and cancer risk: a nationwide cohort study.

J Intern Med 2017 09 20;282(3):229-240. Epub 2017 Jul 20.

Centre for Disease Burden, Domain for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway.

Background: Acute hepatic porphyria (AHP) is considered to be a risk factor for primary liver cancer (PLC), but varying risk estimates have been published.

Objectives: Our aim was to investigate the risk of PLC and other cancers in persons with AHP using a nationwide cohort design. Given that greater numbers of women than men tend to have manifest and more severe AHP, a further aim was to investigate sex differences in this risk. Read More

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http://dx.doi.org/10.1111/joim.12646DOI Listing
September 2017
64 Reads

The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Ann Intern Med 2017 08 27;167(3):159-169. Epub 2017 Jun 27.

From VA Boston Healthcare System, Brigham and Women's Hospital, Harvard Medical School, and Partners HealthCare Personalized Medicine, Boston, Massachusetts; Baylor College of Medicine and UTHealth School of Public Health, Houston, Texas; Oregon Health & Science University, Portland, Oregon; Broad Institute of MIT and Harvard, Cambridge, Massachusetts; and Geisinger Health System, Danville, Pennsylvania.

Background: Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.

Objective: To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.

Design: Pilot randomized trial. Read More

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http://dx.doi.org/10.7326/M17-0188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856654PMC
August 2017
251 Reads

An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.

Clin J Sport Med 2017 Jul;27(4):e58-e59

UBMD Orthopaedics & Sports Medicine Department, University at Buffalo.

Variegate porphyria (VP) is an autosomal dominant disorder of porphyrin metabolism. We report a case of a 21-year-old male collegiate athlete who complained of recurrent headache and fatigue. Extensive testing after initial presentation failed to identify a cause. Read More

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http://dx.doi.org/10.1097/JSM.0000000000000350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491239PMC
July 2017
16 Reads

Avoid missing a rare condition by colouring your judgment purple.

BMJ 2017 04 20;357:j1489. Epub 2017 Apr 20.

Department of dermatology, Heart of England NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1136/bmj.j1489DOI Listing
April 2017
10 Reads

Porphyria cutanea tarda: an intriguing genetic disease and marker.

Int J Dermatol 2017 Jun 21;56(6):e106-e117. Epub 2017 Mar 21.

Dermatology, Rutgers New Jersey Medical School, Newark, NJ, USA.

Porphyrias are a group of intriguing genetic diseases of the heme pathway, of which porphyria cutanea tarda (PCT) is the most common. Resulting from a defect in enzymes in the porphyria pathway, PCT has been linked to several conditions. Recent studies have demonstrated a change in thinking regarding the human immunodeficiency virus (HIV) and development of PCT. Read More

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http://dx.doi.org/10.1111/ijd.13580DOI Listing
June 2017
20 Reads

A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature.

J Hematol 2017 Mar 21;6(1):21-24. Epub 2017 Mar 21.

Department of Hematology/Oncology, Rhode Island Hospital, Providence, RI, USA.

Hereditary coproporphyria (HCP) is the third most common of the acute porphyrias, after acute intermittent porphyria and variegate porphyria. It is caused by decreased activity of the sixth step in the heme biosynthetic pathway. Here we present a case of a woman with HCP who has experienced a wide variety of symptoms over several years. Read More

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http://dx.doi.org/10.14740/jh315wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155817PMC

Update review of the acute porphyrias.

Br J Haematol 2017 02 16;176(4):527-538. Epub 2016 Dec 16.

Department of Haematological Medicine, King's College Hospital, London, UK.

Acute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Read More

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http://dx.doi.org/10.1111/bjh.14459DOI Listing
February 2017
63 Reads

Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion.

J Clin Anesth 2016 Dec 11;35:114-117. Epub 2016 Aug 11.

Department and Clinic of Anesthesiology and Intensive Care, Wroclaw Medical University, Wrocław, Poland.

Porphyria is caused by disorders of enzymes that synthetize porphyrins. Both elective and emergency surgical procedures on patient suffering from porphyria may provoke acute symptoms. These patients require special anesthetic management since some of commonly used anesthetic agents may also induce acute manifestation of porphyria. Read More

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http://dx.doi.org/10.1016/j.jclinane.2016.06.014DOI Listing
December 2016
20 Reads

Hepatic porphyria: A narrative review.

Indian J Gastroenterol 2016 Nov 31;35(6):405-418. Epub 2016 Oct 31.

Department of Internal Medicine, UAB University of Alabama in Birmingham, Birmingham, AL, USA.

Porphyrias are a group of metabolic disorders, which result from a specific abnormality in one of the eight enzymes of the heme biosynthetic pathway. These have been subdivided based on the predominant site of enzyme defect into hepatic and erythropoietic types and based on clinical presentation into acute neurovisceral and cutaneous blistering porphyrias. This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). Read More

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http://dx.doi.org/10.1007/s12664-016-0698-0DOI Listing
November 2016
61 Reads

Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review.

J Emerg Med 2016 Nov 10;51(5):e115-e122. Epub 2016 Sep 10.

Department of Trauma and Emergency Surgery, King's College Hospital NHS Foundation Trust, London, UK.

Background: Acute porphyria is historically known as "the little imitator" in reference to its reputation as a notoriously difficult diagnosis. Variegate porphyria is one of the four acute porphyrias, and can present with both blistering cutaneous lesions and acute neurovisceral attacks involving abdominal pain, neuropsychiatric features, neuropathy, hyponatremia, and a vast array of other nonspecific clinical features.

Case Report: A 40-year-old man presented to the Emergency Department (ED) as a major trauma call, having been found in an "acutely confused state" surrounded by broken glass. Read More

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http://dx.doi.org/10.1016/j.jemermed.2016.06.058DOI Listing
November 2016
37 Reads

Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients.

PLoS One 2016 27;11(10):e0164857. Epub 2016 Oct 27.

Laboratory for Physical Activity Sciences. Research Group in Community Nutrition and Oxidative Stress. Department of Basic Biology and Health Sciences. IUNICS, University of Balearic Islands, Palma, Spain.

The aims of the present study were to explore the expression pattern of haem biosynthesis enzymes in circulating cells of patients affected by two types of porphyria (acute intermittent, AIP, and variegate porphyria, VP), together with the antioxidant enzyme pattern in AIP in order to identify a possible situation of oxidative stress. Sixteen and twelve patients affected by AIP and VP, respectively, were analysed with the same numbers of healthy matched controls. Erythrocytes, neutrophils and peripheral blood mononuclear cells (PBMCs) were purified from blood, and RNA and proteins were extracted for quantitative real time PCR (qRT-PCR) and Western-blot analysis, respectively. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0164857PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5082889PMC
June 2017
36 Reads

Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient.

Intern Med 2016;55(20):2965-2969. Epub 2016 Oct 15.

Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Japan.

Variegate porphyria (VP) is an autosomal dominant disease caused by mutations of the protoporphyrinogen oxidase (PPOX) gene. This porphyria has unique characteristics which can induce acute neurovisceral attacks and cutaneous lesions that may occur separately or together. We herin report a 58-years-old VP patient complicated with cholelithiasis. Read More

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http://dx.doi.org/10.2169/internalmedicine.55.7108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109563PMC
February 2017
38 Reads

The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1.

Blood Cells Mol Dis 2016 10 17;61:48-53. Epub 2016 Aug 17.

Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico, U.O. di Medicina Interna, Milano, Italy. Electronic address:

The PPOX gene encodes for the protoporphyrinogen oxidase, which is involved in heme production. The partial deficiency of protoporphyrinogen oxidase causes variegate porphyria. The tissue-specific regulation of other heme biosynthetic enzymes is extensively studied, but the information concerning transcriptional and post-transcriptional regulation of PPOX gene expression is scarcely available. Read More

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http://dx.doi.org/10.1016/j.bcmd.2016.08.002DOI Listing
October 2016
82 Reads

Haplotype Study in Argentinean Variegate Porphyria Patients.

Hum Hered 2015 24;80(3):139-43. Epub 2016 May 24.

Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP) CONICET, Hospital de Clx00ED;nicas Josx00E9; de San Martx00ED;n - UBA, Buenos Aires, Argentina.

Background/aims: The porphyrias are genetically heterogeneous diseases, and each mutation is exclusive to one or two families. Among the mutations responsible for variegate porphyria in our country, c.1042_1043insT stands out, since it was described only in Argentina and is present in about 40% of genetically diagnosed families. Read More

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http://dx.doi.org/10.1159/000445749DOI Listing
October 2017
18 Reads

Acute variegate porphyria presenting with reversible cerebral vasoconstriction.

Clin Neurol Neurosurg 2016 Jul 6;146:102-4. Epub 2016 May 6.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

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http://dx.doi.org/10.1016/j.clineuro.2016.04.018DOI Listing
July 2016
25 Reads