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1.
Adv Skin Wound Care ; 37(8): 406-411, 2024 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-39037094

RESUMO

GENERAL PURPOSE: To raise awareness regarding the clinical presentations of patients with pseudoporphyria. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and registered nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After participating in this educational activity, the participant will:1. Describe the clinical presentation of pseudoporphyria.2. Identify the differential diagnoses of blistering lesions on hands and feet.3. Outline the management options for patients with porphyria.


Pseudoporphyria is an uncommon immunobullous disease that is clinically and histopathologically similar to porphyria cutanea tarda but without abnormal porphyrin levels. Limited case reports and case series of pseudoporphyria have been published. To describe the clinical characteristics and inciting agents for patients with pseudoporphyria. Health records were retrospectively reviewed for patients treated at an integrated multiregional health system from 1996 through 2020. To report results, the authors used descriptive statistics, median (range) for continuous variables, and number (percentage) for categorical data. In total, 23 patients met the inclusion criteria: 13 men and 10 women. The most common medications causing pseudoporphyria were nonsteroidal anti-inflammatory drugs, the antihypertensive agent hydrochlorothiazide, and retinoids. All patients had blisters and reported photosensitivity. Seven patients (30.4%) also had scarring, and one (4.3%) had milia. All patients had normal porphyrin levels in their serum, urine, and stool. Among patients with remission, symptoms resolved at a median of 2.5 months (range, 1 week to 24 months) after discontinuation of the suspected inciting medication. Four patients, however, had persistent symptoms at a median of 6 months (range, 2­9 months). Because pseudoporphyria is a diagnosis of exclusion, clinicians should familiarize themselves with the presentation and management of this uncommon condition.


Assuntos
Porfirias , Humanos , Masculino , Feminino , Diagnóstico Diferencial , Porfirias/diagnóstico
3.
Dermatologie (Heidelb) ; 75(7): 539-547, 2024 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-38902527

RESUMO

Porphyrias are predominantly genetic metabolic disorders caused by dysregulation of specific enzymes in porphyrin-heme biosynthesis. The enzymatic dysfunction leads to formation and excretion of intermediate metabolic products in the form of porphyrins and/or their precursors δ­aminolevulinic acid and porphobilinogen, which have cyto- and tissue-toxic properties. Clinically, porphyrias are extremely diverse, with symptoms ranging from skin changes on light-exposed areas of the body to potentially life-threatening neurovisceral attacks. Biochemical tests in urine, blood and stool are used for diagnosis, which can be supplemented by molecular genetic analyses. Treatment of the various forms of porphyria is complex and often requires close interdisciplinary cooperation between different medical specialties.


Assuntos
Porfirias , Humanos , Porfirias/diagnóstico , Porfirias/terapia , Porfirias/genética , Porfirinas/urina , Porfirinas/metabolismo
4.
J Clin Pathol ; 77(8): 574-578, 2024 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-38631910

RESUMO

The porphyrias are rare disorders of haem biosynthesis. Diagnosis requires demonstrating increased porphyrins or porphyrin precursors in blood, urine and faeces. Patients may only be investigated once, and therefore, understanding the preanalytical factors affecting the reliability of results is crucial. Guidance for sample handling exists, but published evidence regarding the stability of porphyrins and their precursors is limited. The aim of this study was to evaluate the effect of light exposure and different storage temperatures on analyte stability for measurement of urinary aminolaevulinic acid and porphobilinogen, total urine porphyrin and plasma porphyrin. Our results confirm that all samples should be protected from light. Results from samples exposed to light for greater than 4 hours should be interpreted with caution and repeat samples requested. If transported to a specialist laboratory, samples should be stored at 4°C before transport. Transit time at ambient temperatures should be less than 24 hours.


Assuntos
Porfirinas , Manejo de Espécimes , Temperatura , Humanos , Manejo de Espécimes/métodos , Porfirinas/urina , Porfirinas/química , Porfirinas/sangue , Luz , Fatores de Tempo , Porfirias/diagnóstico , Porfirias/urina , Ácido Aminolevulínico/urina , Porfobilinogênio/urina , Porfobilinogênio/sangue , Reprodutibilidade dos Testes , Urinálise/métodos
5.
Annu Rev Med ; 75: 321-335, 2024 Jan 29.
Artigo em Inglês | MEDLINE | ID: mdl-37540847

RESUMO

The porphyrias are a group of rare diseases, each resulting from a defect in a different enzymatic step of the heme biosynthetic pathway. They can be broadly divided into two categories, hepatic and erythropoietic porphyrias, depending on the primary site of accumulation of heme intermediates. These disorders are multisystemic with variable symptoms that can be encountered by physicians in any specialty. Here, we review the porphyrias and describe their clinical presentation, diagnosis, and management. We discuss novel therapies that are approved or in development. Early diagnosis is key for the appropriate management and prevention of long-term complications in these rare disorders.


Assuntos
Porfirias , Humanos , Porfirias/diagnóstico , Porfirias/genética , Porfirias/terapia , Heme
6.
Semin Liver Dis ; 43(4): 446-459, 2023 11.
Artigo em Inglês | MEDLINE | ID: mdl-37973028

RESUMO

The porphyrias are a group of metabolic disorders that are caused by defects in heme biosynthesis pathway enzymes. The result is accumulation of heme precursors, which can cause neurovisceral and/or cutaneous photosensitivity. Liver is commonly either a source or target of excess porphyrins, and porphyria-associated hepatic dysfunction ranges from minor abnormalities to liver failure. In this review, the first of a three-part series, we describe the defects commonly found in each of the eight enzymes involved in heme biosynthesis. We also discuss the pathophysiology of the hepatic porphyrias in detail, covering epidemiology, histopathology, diagnosis, and complications. Cellular consequences of porphyrin accumulation are discussed, with an emphasis on oxidative stress, protein aggregation, hepatocellular cancer, and endothelial dysfunction. Finally, we review current therapies to treat and manage symptoms of hepatic porphyria.


Assuntos
Neoplasias Hepáticas , Porfirias Hepáticas , Porfirias , Porfirinas , Humanos , Doenças Raras/complicações , Porfirinas/metabolismo , Porfirias/diagnóstico , Porfirias/terapia , Porfirias/complicações , Porfirias Hepáticas/epidemiologia , Porfirias Hepáticas/terapia , Porfirias Hepáticas/complicações , Heme/metabolismo , Neoplasias Hepáticas/metabolismo
7.
J Pak Med Assoc ; 73(10): 2089-2092, 2023 10.
Artigo em Inglês | MEDLINE | ID: mdl-37876078

RESUMO

Porphyria refers to a rare group of genetically inherited or acquired disorders that arise due to reduced metabolic activity of any of the enzymes in the haem biosynthetic pathway. Defect in any enzyme causes the presentation of symptoms of porphyria. The epidemiology of Acute Intermittent Porphyria (AIP) is complicated because of its rarity and delay in diagnosis. We present the case of a seven-year-old girl who presented with multisystem involvement; her symptoms were quadriparesis, hypertension, recurrent severe cyclic abdominal pain, and seizures. These symptoms together were not explained by the differentials taken into account. She presented before puberty with no family history of such conditions, while being born of consanguineous marriage. Her symptoms along with urinary porphobilinogen positivity test helped to reach the diagnosis of AIP in the absence of cutaneous manifestations. This case highlights the variable presentation of porphyria and emphasises the importance of appropriate and timely diagnosis and management in these patients.


Assuntos
Hipertensão , Porfiria Aguda Intermitente , Porfirias , Humanos , Feminino , Criança , Porfiria Aguda Intermitente/complicações , Porfiria Aguda Intermitente/diagnóstico , Porfirias/diagnóstico , Convulsões/etiologia , Dor Abdominal/etiologia , Hipertensão/etiologia , Quadriplegia/etiologia
8.
9.
Clin Chem ; 69(10): 1186-1196, 2023 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-37608428

RESUMO

BACKGROUND: The quantification of delta-aminolevulinic acid (ALA) and porphobilinogen (PBG) in urine are the first-line tests for diagnosis and monitoring of acute hepatic porphyrias (AHP). Ion-exchange chromatography (IEC), which is time- and staff-consuming and limited to urine, is still the preferred method in many specialized laboratories, despite the development of mass spectrometry-based methods. METHODS: We describe a new LC-MS method that allows for rapid and simple quantification of ALA and PBG in urine and plasma with an affordable instrument that was used to analyze 2260 urine samples and 309 blood samples collected in 2 years of routine activity. The results were compared to those obtained with IEC, and urine reference ranges and concentrations in asymptomatic carriers were determined. Plasma concentrations were measured in healthy subjects and subgroups of symptomatic and asymptomatic AHP carriers. RESULTS: In urine, the clinical decision limits were not impacted by the change of method despite discrepancies in low absolute concentrations, leading to lower normal values. Two-thirds of asymptomatic AHP carriers (with the exception of coproporphyria carriers) showed an increased urine PBG concentration. Urine and plasma levels showed a good correlation except in patients with kidney disease in whom the urine/plasma ratio was relatively low. CONCLUSION: We described an LC-MS based method for the routine diagnosis and monitoring of AHP that allows for the detection of more asymptomatic carriers than the historical method. Blood analysis appears to be particularly relevant for patients with kidney disease, where urine measurement underestimates the increase in ALA and PBG levels.


Assuntos
Porfirias Hepáticas , Porfirias , Porfirinas , Insuficiência Renal , Humanos , Cromatografia Líquida/métodos , Ácido Aminolevulínico/urina , Espectrometria de Massas em Tandem/métodos , Porfobilinogênio/urina , Porfirias/diagnóstico
10.
J Postgrad Med ; 69(3): 164-171, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37082991

RESUMO

Porphyrias are a rare group of inborn errors of metabolism due to defects in the heme biosynthetic pathway. The biochemical hallmark is the overproduction of porphyrin precursors and porphyrin species. Afflicted patients present with a myriad of symptoms causing a diagnostic odyssey. Symptoms often overlap with those of common diseases and may be overlooked unless there is heightened clinical suspicion. We are reporting clinical features and diagnostic challenges in four pediatric patients having variegate porphyria, congenital erythropoietic porphyria, acute intermittent porphyria, and erythropoietic protoporphyria (EPP), who presented with diverse multisystem manifestations. This case series illustrates a logical analysis of symptoms and judicious selection of investigations and the role of genotyping in successfully diagnosing porphyrias.


Assuntos
Porfiria Aguda Intermitente , Porfirias , Porfirinas , Criança , Humanos , Porfirias/diagnóstico , Porfiria Aguda Intermitente/diagnóstico
11.
Orphanet J Rare Dis ; 18(1): 49, 2023 03 08.
Artigo em Inglês | MEDLINE | ID: mdl-36890577

RESUMO

BACKGROUND: Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. METHODS: We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases. RESULTS: A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population. CONCLUSIONS: Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.


Assuntos
Porfiria Aguda Intermitente , Porfirias , Humanos , Estudos Retrospectivos , Qualidade de Vida , Brasil/epidemiologia , Estudos Transversais , Porfirias/genética , Porfirias/complicações , Porfirias/diagnóstico , Porfiria Aguda Intermitente/genética
12.
Med Klin Intensivmed Notfmed ; 118(1): 21-29, 2023 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-36598516

RESUMO

Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic metabolites lead to multisystemic symptoms such as visceral pain, autonomic dysregulation, neurocognitive impairment, hyponatremia, and occasionally motor paralysis. In addition to protracted non-emergency courses, acute life-threatening crises can occur, often triggered by infection, medication, fasting, or hormonal stimuli. Since the clinical presentation is nonspecific and multifaceted, many patients have gone through a long odyssey until they receive a diagnosis. Acute attacks often lead to presenting initially to the emergency department, where acute hepatic porphyria (AHP) is easily overlooked in the differential diagnosis. Establishing the diagnosis requires a high level of genuine suspicion (e.g., cluster of signs and symptoms along with certain patterns of health care resource utilization). The initial diagnostic work-up requires the measurement of metabolites in the urine. Emergency management consists of infusions of glucose and heme arginate along with symptomatic therapy. However, porphyrinogenic agents must be strictly avoided ( www.drugs-porphyria.org ). After initial diagnosis, a thorough work-up should be done at a porphyria center (confirming the diagnosis, education, genetic counselling) and issuance of an emergency identification card is mandatory. If the frequency of relapses is high, new targeted prophylactic therapies have proven effective. Patients with known porphyria require special attention in any acute medical condition in order to avoid porphyrinogenic triggers and to exclude threatening differential diagnosis (e.g., sepsis) by consistent basic diagnostics.


Assuntos
Porfiria Aguda Intermitente , Porfirias Hepáticas , Porfirias , Humanos , Porfirias Hepáticas/terapia , Porfirias Hepáticas/tratamento farmacológico , Porfirias/diagnóstico , Porfirias/terapia , Porfiria Aguda Intermitente/terapia , Porfiria Aguda Intermitente/tratamento farmacológico , Sintase do Porfobilinogênio/uso terapêutico , Doença Aguda
13.
Pediatr Dermatol ; 40(2): 326-329, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36178265

RESUMO

Variegate porphyria (VP) is a rare subtype of porphyrias characterized by dysfunction of enzymes in the heme biosynthesis pathway leading to an accumulation of porphyrins and their precursors. The resulting buildup can manifest as neuropsychiatric symptoms and photosensitive blistering eruptions on sun-exposed skin. We report a case of VP in a 9-year-old girl with many confounding medical factors that warranted alternative explanations for her cutaneous lesions. VP has been reported infrequently in the pediatric population and is associated with more severe neuropsychiatric outcomes compared to adult-onset disease.


Assuntos
Porfiria Variegada , Porfirias , Porfirinas , Criança , Adulto , Feminino , Humanos , Porfiria Variegada/diagnóstico , Vesícula/diagnóstico , Vesícula/etiologia , Porfirias/diagnóstico , Porfirias/metabolismo , Pele/metabolismo
14.
J Inherit Metab Dis ; 45(6): 1151-1162, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36053909

RESUMO

Porphyrias are rare metabolic disorders of the haem synthesis. They can present with acute neurovisceral attacks, cutaneous symptoms, or a combination of both. As they present with a wide variety of clinical symptoms, diagnosis is often delayed and correct interpretation of porphyria-related tests remains a challenge for many physicians. We developed and validated two algorithms for the laboratory diagnosis of porphyrias based on presenting symptoms. Based on a literature search and clinical/laboratory expertise, we developed algorithms for acute and cutaneous porphyrias. We validated these algorithms using all porphyria related laboratory test requests between January 1st 2000 and September 30th 2020 in UZ Leuven. In addition, we also evaluated our algorithm using samples from the European porphyria network (EPNET) external quality assessment scheme (2010-2021). Sensitivity of the algorithm for acute porphyria was 100.0% [74.9%-100.0%] (13 acute intermittent porphyria (AIP) and 1 variegate porphyria [VP]) with a specificity of 98.5% [91.0%-100.0%] (65 patients). Sensitivity of the algorithm for cutaneous porphyria was 100% [95.1%-100.0%] (7 VP, 59 porphyria cutanea tarda (PCT), 23 erythropoietic protoporphyria (EPP), 2 X-linked erythropoietic protoporphyria [XLEPP]) with a specificity of 93.9% [82.9%-98.5%]. There were no diagnostic samples of other types of porphyria. The algorithms correctly identified 18 of the 19 EPNET porphyria cases. One of the two hereditary coproporphyria cases was missed. The algorithms for acute and cutaneous porphyria showed high sensitivity and specificity and can be used to aid the clinician in correctly interpreting the laboratory findings of porphyria-related tests.


Assuntos
Porfiria Aguda Intermitente , Porfirias Hepáticas , Porfirias , Protoporfiria Eritropoética , Humanos , Porfirias/diagnóstico , Técnicas de Laboratório Clínico , Algoritmos
15.
Zhonghua Gan Zang Bing Za Zhi ; 30(6): 663-666, 2022 Jun 20.
Artigo em Chinês | MEDLINE | ID: mdl-36038330

RESUMO

Porphyria is a disease caused by defects in the activity of any of the eight enzymes required for the heme synthesis pathway. Most of these are genetic diseases, and the main clinical symptoms are abdominal pain, neuropsychiatric symptoms and skin lesions. Detection of high levels of porphyrin and/or its precursors in blood, urine and feces can be used as diagnostic clues, and known genetic mutations can confirm the diagnosis. Porphyria is rare in clinical practice. However, in recent years, the number of porphyria patients with hepatic disease as the initial symptom has been increasing. Here, we focus on porphyria-related hepatic manifestations and their diagnosis and treatment, so as to provide recommendations for clinicians to reduce the misdiagnosis and missed diagnosis incidence rate.


Assuntos
Hepatopatias , Porfirias , Porfirinas , Humanos , Mutação , Porfirias/diagnóstico , Porfirias/terapia
16.
Curr Neurol Neurosci Rep ; 22(7): 355-362, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35665475

RESUMO

PURPOSE OF REVIEW: Porphyrias constitute a group of rare metabolic disorders that result in a deficiency of the heme biosynthetic pathway and lead to the accumulation of metabolic intermediaries. Patients with porphyria can experience recurrent neurovisceral attacks which are characterized by neuropathic abdominal pain and acute gastrointestinal symptoms, including nausea, vomiting, and constipation. Depending on the type of porphyria, patients can present with cutaneous manifestations, such as severe skin photosensitivity, chronic hemolysis, or evidence of neurologic dysfunction, including alterations in consciousness, neurovascular involvement, seizures, transient sensor-motor symptoms, polyneuropathy, and behavioral abnormalities. RECENT FINDINGS: More recently, cases of posterior reversible encephalopathy syndrome, cerebral vasoconstriction, and acute flaccid paralysis have also been described. While the exact pathogenic mechanisms linking the accumulation of abnormal heme biosynthetic intermediaries to neurologic manifestations have not been completely elucidated, it has been proposed that these manifestations are more common than previously thought and can result in permanent neurologic injury. This article reviews the basic principles of heme synthesis as well as the pathogenic mechanism of disease, presentation, and treatment of acute hepatic porphyrias with emphasis on those with neurologic manifestations.


Assuntos
Neuralgia , Porfiria Aguda Intermitente , Porfirias Hepáticas , Porfirias , Síndrome da Leucoencefalopatia Posterior , Heme/metabolismo , Humanos , Porfiria Aguda Intermitente/complicações , Porfirias/complicações , Porfirias/diagnóstico , Porfirias/terapia , Porfirias Hepáticas/diagnóstico
17.
Orphanet J Rare Dis ; 17(1): 160, 2022 04 07.
Artigo em Inglês | MEDLINE | ID: mdl-35392955

RESUMO

Acute hepatic porphyrias (AHPs) are a family of four rare genetic diseases resulting from a deficiency in one of the enzymes involved in heme biosynthesis. AHP patients can experience potentially life-threatening acute attacks, characterized by severe abdominal pain, along with other signs and symptoms including nausea, mental confusion, hyponatraemia, hypertension, tachycardia and muscle weakness. Some patients also experience chronic manifestations and long-term complications, such as chronic pain syndrome, neuropathy and porphyria-associated kidney disease. Most symptomatic patients have only a few attacks in their lifetime; nevertheless, some experience frequent attacks that result in ongoing symptoms and a significant negative impact on their quality of life (QoL). Initial diagnosis of AHP can be made with a test for urinary porphobilinogen, [Formula: see text]-aminolaevulinic acid and porphyrins using a single random (spot) sample. However, diagnosis is frequently missed or delayed, often for years, because the clinical symptoms of AHP are non-specific and mimic other more common disorders. Delayed diagnosis is of concern as some commonly used medications can trigger or exacerbate acute attacks, and untreated attacks can become severe, potentially leading to permanent neurological damage or fatality. Other attack triggers include hormonal fluctuations in women, stress, alcohol and low-calorie diets, which should be avoided in patients where possible. For the management of attacks, intravenous hemin is approved, whereas new therapeutic approaches are currently being investigated as a baseline therapy for prevention of attacks and improvement of QoL. Among these, a novel siRNA-based agent, givosiran, has shown very promising results in a recently concluded Phase III trial and has been approved for the management of AHPs. Here, we propose a challenging case study-with a very unusual pediatric onset of variegate porphyria-as a starting point to summarize the main clinical aspects (namely, clinical manifestations, diagnostic challenges, and therapeutic management) of AHPs, with a focus on the latest therapeutic innovations.


Assuntos
Porfiria Aguda Intermitente , Porfirias Hepáticas , Porfirias , Criança , Feminino , Humanos , Dor/etiologia , Sintase do Porfobilinogênio/deficiência , Sintase do Porfobilinogênio/uso terapêutico , Porfiria Aguda Intermitente/diagnóstico , Porfiria Aguda Intermitente/terapia , Porfirias/complicações , Porfirias/diagnóstico , Porfirias Hepáticas/diagnóstico , Porfirias Hepáticas/tratamento farmacológico , Qualidade de Vida
18.
J Dtsch Dermatol Ges ; 20(3): 316-331, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35304965

RESUMO

The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).


Assuntos
Porfiria Cutânea Tardia , Porfiria Variegada , Porfirias , Criança , Diagnóstico Diferencial , Humanos , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/terapia , Porfiria Variegada/diagnóstico , Porfiria Variegada/terapia , Porfirias/classificação , Porfirias/diagnóstico , Porfirias/terapia
19.
Anaesthesist ; 71(4): 321-330, 2022 04.
Artigo em Alemão | MEDLINE | ID: mdl-35352131

RESUMO

Porphyrias are a group of rare, mostly inherited metabolic disorders of heme biosynthesis. Each type of porphyria results from a specific deficiency of one of the pathway enzymes, causing a characteristic accumulation and excretion of heme precursors. Diagnosis is confirmed by the biochemical detection of these porphyrins and the precursors in urine, feces and blood. Porphyrias can be classified into acute and non-acute forms. The clinical presentation is unspecific and includes acute neurovisceral and/or cutaneous symptoms. The latent phase can evolve into a potentially life-threatening acute crisis, which is often misdiagnosed. The four acute hepatic porphyrias are relevant for anesthesiologists as precipitating factors are commonly found in the perioperative setting. Safe anesthetic management in cases of known porphyria is possible by adherence to current recommendations. The immediate administration of heme arginate as specific treatment for acute attacks is decisive for the outcome.


Assuntos
Anestesia , Porfiria Aguda Intermitente , Porfirias Hepáticas , Porfirias , Heme/uso terapêutico , Humanos , Porfiria Aguda Intermitente/complicações , Porfiria Aguda Intermitente/diagnóstico , Porfiria Aguda Intermitente/terapia , Porfirias/diagnóstico , Porfirias/metabolismo , Porfirias Hepáticas/diagnóstico , Porfirias Hepáticas/terapia
20.
Acta Clin Belg ; 77(3): 703-709, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33938396

RESUMO

Porphyrias are disorders of the haem biosynthesis which are encountered infrequently and which often present themselves atypically as a combination of gastrointestinal, neurologic and/or dermatologic symptoms. Although they are primarily caused by enzyme defects, inheritance patterns are mostly not evident. Considering all of these characteristics, it is not surprising that there is a long delay between the onset of symptoms and the diagnosis of the disease, with as possible consequences impaired quality of life, irreversible neurologic damage and even death. This review aims to increase the clinical suspicion of the three most common porphyrias in adults: acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT) and protoporphyria. Their relevant pathophysiology, clinical manifestations, diagnosis and treatment are discussed aiming at increasing the awareness of these diseases among physicians.


Assuntos
Porfiria Cutânea Tardia , Porfiria Aguda Intermitente , Porfirias , Adulto , Humanos , Porfiria Cutânea Tardia/diagnóstico , Porfiria Cutânea Tardia/terapia , Porfiria Aguda Intermitente/diagnóstico , Porfiria Aguda Intermitente/terapia , Porfirias/diagnóstico , Porfirias/terapia , Qualidade de Vida
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