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porphyria guidelines

Yongjiang Zheng, Jiehua Xu, Shengran Liang, Dongjun Lin, Santasree Banerjee
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP. Mutation of HMBS gene results into the partial deficiency of the heme biosynthetic enzyme hydroxymethylbilane synthase. AIP is clinically manifested with abdominal pain, vomiting, and neurological complaints. Additionally, an extreme phenotypic heterogeneity has been reported in AIP patients with mutations in HMBS gene. Here, we investigated a Chinese patient with AIP...
2018: Frontiers in Genetics
John Lidemberto Cardenas, Carlos Guerrero
Despite medical advances, the diagnosis and management of acute intermittent porphyria continues to be challenging. Acute pain is one of the most important clinical manifestations in acute intermittent porphyria, but management and pain assessment have been poorly studied in these patients. The lack of information and evidence based recommendations regarding these topics in the medical literature is certainly surprising. Furthermore, pain management is discussed based on extrapolating concepts adopted for other pain syndromes...
February 26, 2018: Current Medical Research and Opinion
Manisha Balwani, Bruce Wang, Karl E Anderson, Joseph R Bloomer, D Montgomery Bissell, Herbert L Bonkovsky, John D Phillips, Robert J Desnick
The acute hepatic porphyrias are a group of four inherited disorders, each resulting from a deficiency in the activity of a specific enzyme in the heme biosynthetic pathway. These disorders present clinically with acute neurovisceral symptoms which may be sporadic or recurrent and, when severe, can be life-threatening. The diagnosis is often missed or delayed as the clinical features resemble other more common medical conditions. There are four major subgroups: symptomatic patients with sporadic attacks (<4 attacks/year) or recurrent acute attacks (≥4 attacks/year), asymptomatic high porphyrin precursor excretors, and asymptomatic latent patients without symptoms or porphyrin precursor elevations...
October 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
Danja Schulenburg-Brand, Tricia Gardiner, Simon Guppy, David C Rees, Penelope Stein, Julian Barth, M Felicity Stewart, Michael Badminton
Severe recurrent acute attacks of porphyria have traditionally been treated with either prophylactic human haemin or gonadorelin analogues (GnA) in females. Evidence on the most effective treatment for this patient subgroup is lacking. This audit surveyed the use of prophylactic GnA in the UK.Twenty female patients (who experienced between 2 and 45 acute attacks of porphyria requiring hospitalisation and treatment with human haemin prior to GnA prophylaxis) were included in the audit. Data was retrospectively collected based on patient history and case review...
2017: JIMD Reports
Jacqueline Woolf, Joanne T Marsden, Timothy Degg, Sharon Whatley, Paul Reed, Nadia Brazil, M Felicity Stewart, Michael Badminton
The porphyrias are disorders of haem biosynthesis which present with acute neurovisceral attacks or disorders of sun-exposed skin. Acute attacks occur mainly in adults and comprise severe abdominal pain, nausea, vomiting, autonomic disturbance, central nervous system involvement and peripheral motor neuropathy. Cutaneous porphyrias can be acute or chronic presenting at various ages. Timely diagnosis depends on clinical suspicion leading to referral of appropriate samples for screening by reliable biochemical methods...
March 2017: Annals of Clinical Biochemistry
Kyung Hee Kim, Ki Young Oh
Phlebotomy is the removal of blood from the body, and therapeutic phlebotomy is the preferred treatment for blood disorders in which the removal of red blood cells or serum iron is the most efficient method for managing the symptoms and complications. Therapeutic phlebotomy is currently indicated for the treatment of hemochromatosis, polycythemia vera, porphyria cutanea tarda, sickle cell disease, and nonalcoholic fatty liver disease with hyperferritinemia. This review discusses therapeutic phlebotomy and the related disorders and also offers guidelines for establishing a therapeutic phlebotomy program...
2016: Journal of Blood Medicine
Christiaan W Sies, Virginia Cronin, Christopher M Florkowski, Jan Gill, Janine Grant, Victor Poulos, John Zoanetti
BACKGROUND: The Royal College of Pathologists of Australasia (RCPA) Porphyrin Quality Assurance Program assesses the measurement of urine, faecal, plasma and whole blood porphyrins and their components plus urinary porphobilinogen and delta aminolaevulinic acid and has laboratories enrolled from around the world. It was observed that there was a wide scatter in results submitted to some subsections of the program. METHODS: A detailed questionnaire covering the analytical techniques used in the diagnosis of porphyria was sent to all laboratories enrolled in the RCPA Porphyrin Quality Assurance Program...
May 2015: Clinical Biochemist. Reviews
Paolo Ventura, Maria Domenica Cappellini, Gianfranco Biolcati, Claudio Carmine Guida, Emilio Rocchi
Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal...
July 2014: European Journal of Internal Medicine
Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva
INTRODUCTION: Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy. The aim of this study is to describe the clinical, biochemical, and histopathological findings in a group of Mexican HT1 patients and their outcome. MATERIAL AND METHODS: Medical records of HT1 patients diagnosed between 1995 and 2011 were analyzed. The diagnosis of HT1 was confirmed by detection of succinylacetone in urine or blood...
March 2014: Annals of Hepatology
Penelope Stein, Mike Badminton, Julian Barth, David Rees, M Felicity Stewart
The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyria may occur in acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP). Aminolaevulinic acid dehydratase deficiency porphyria (ADP) is a very rare autosomal recessive porphyria; only six cases substantiated by mutation analysis have yet been described in the literature...
May 2013: Annals of Clinical Biochemistry
S Paul Starr
No abstract text is available yet for this article.
January 2012: Journal of Family Practice
Usha Kant Misra, Jayantee Kalita
A provoked seizure may be due to structural damage (resulting from traumatic brain injury, brain tumor, stroke, tuberculosis, or neurocysticercosis) or due to metabolic abnormalities (such as alcohol withdrawal and renal or hepatic failure). This article is a part of the Guidelines for Epilepsy in India. This article reviews the problem of provoked seizure and its management and also provides recommendations based on currently available information. Seizure provoked by metabolic disturbances requires correction of the triggering factors...
January 2011: Annals of Indian Academy of Neurology
J Ruiz-Giménez, J C Sánchez-Alvarez, F Cañadillas-Hidalgo, P J Serrano-Castro
BACKGROUND: A high number of patients with epilepsy have comorbidities. The type of comorbidity is an important factor in deciding on the most suitable treatment, including that for acute epileptic seizures and chronic antiepileptic treatment. Evidence-based criteria should guide the selection of the appropriate antiepileptic drugs given specific comorbidities. METHODS: We performed a comprehensive search of the scientific literature on epilepsy treatment in patients with the following comorbidities: heart disease, lung disease, liver disease, kidney disease, porphyria, organ transplantation, thyroid disease, metabolic disorder, infection, mental disability, psychiatric disorder, cognitive impairment, stroke, and brain tumour...
September 2010: Seizure: the Journal of the British Epilepsy Association
C Delaby, J To-Figueras, J C Deybach, R Casamitjana, H Puy, C Herrero
OBJECTIVE: Acute intermittent porphyria (AIP) is caused by a deficiency of hydroxymethylbilane synthase. Clinical manifestations are abdominal pain and neurovisceral symptoms, accompanied by overproduction of heme-precursors in the liver, which frequently remains long-lasting in AIP patients. We tested the hypothesis that this condition may be associated with alterations of hepatic proteins known to be either increased or decreased in serum according to diverse pathological conditions including malnutrition, inflammation or liver disease...
September 2009: Journal of Internal Medicine
D A Legrand, P Borgoens, P Lancellotti
The treatment of acute myocardial infarction as described in guidelines, generaly meets with few contra-indications. In our clinical practice, we have met an exceptional one: acute intermittent porphyria. This disease is characterized by acute abdominal pain, neurologic disturbances and cardiac arrhythmias related to different stimuli such as some drugs. Among these drugs, several molecules are usually used for treatment of acute coronary syndromes. Knowledge of these the therapies is crucial to avoid some dangerous consequences...
September 2008: Revue Médicale de Liège
R Dyde, A H Chapman, R Gale, A Mackintosh, D J M Tolan
Hyoscine-N-butylbromide (Buscopan, Boehringer Ingelheim) is a widely used antispasmodic in radiological practice. There seems to be no consensus as to best practice within radiology regarding the precautions that need to be taken when prescribing Buscopan. We have performed a thorough review of the available literature and make the following recommendations to those administering Buscopan: (1) enquire whether there is an allergic history; (2) ensure patient literature warns that "in the rare event that following the examination you develop painful, blurred vision in one or both eyes, you must attend hospital immediately for assessment"; (3) warn patients to expect blurred vision and not to drive until this has worn off; (4) remind clinicians that special consideration needs to be given as to the method of investigating patients with cardiac instability, such as those recently admitted with acute coronary syndrome, recurrent cardiac pain at rest, uncontrolled left ventricular failure and recent ventricular arrhythmias...
July 2008: Clinical Radiology
E McGovern, P Fleming, A O'Marcaigh
BACKGROUND: Acute Intermittent Porphyria (AIP) is a rare autosomal dominant metabolic disorder resulting from partial deficiency of porphobobilinogen deaminase, the third enzyme of the haem synthetic pathway. Patients with AIP may be vulnerable to acute neurovisceral attacks if exposed to certain drugs, including some drugs used in dental practice. CASE REPORTS: This article outlines the dental management of 5 children with a diagnosis of latent AIP or a family history of AIP...
December 2007: European Archives of Paediatric Dentistry: Official Journal of the European Academy of Paediatric Dentistry
F Sedel, N Baumann, J-C Turpin, O Lyon-Caen, J-M Saudubray, D Cohen
Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical picture with systemic, cognitive or motor neurological signs. However, in some cases, psychiatric signs may be apparently isolated. We propose a schematic classification of IEMs into three groups according to the type of psychiatric signs at onset. Group 1 represents emergencies, in which disorders can present with acute and recurrent attacks of confusion, sometimes misdiagnosed as acute psychosis...
October 2007: Journal of Inherited Metabolic Disease
J-Ch Deybach, M Badminton, H Puy, S Sandberg, J Frank, P Harper, P Martasek, E Minder, S Parker, S Thunell, G Elder
Porphyrias are uncommon inherited diseases of haem biosynthesis for which the diagnosis and treatment varies in individual countries. Despite the existence of guidelines recommended by porphyria experts concerning the diagnosis and management of the acute porphyrias, and of specialist centres in most European countries, many clinicians still do not apply these guidelines. The European Porphyia Initiative (EPI) network was formed in 2001 in order to compare experience among countries to attempt to develop a common approach to the management of the porphyrias, particularly concerning recommendation of safe and unsafe drugs, and to facilitate international collaborative clinical and biological research...
2006: Physiological Research
P Poblete-Gutiérrez, W H C Burgdorf, C Has, M Berneburg, J Frank
Hereditary photodermatoses are characterized by an increased photosensitivity caused by an inherited single gene defect. With few exceptions, they manifest in early childhood, reveal heterogeneous clinical symptoms, and are difficult to treat. Although these diseases are rare, it is very important to make an accurate diagnosis on the basis of clinical symptoms, specific diagnostic tests, and direct DNA analysis. We review the spectrum of inherited photodermatoses, including porphyria cutanea tarda, erythropoietic protoporphyria, actinic prurigo, Kindler syndrome, and disorders associated with a defect in DNA repair, including xeroderma pigmentosum, trichothiodystrophy, Cockayne syndrome, and Bloom syndrome...
December 2006: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
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