Anesthetic Considerations in Porphyrias

Jensen, Niels F.; Fiddler, Daniel S.; Striepe, Volker

doi:10.1097/00000539-199503000-00028

Cited by 32 publications

(34 citation statements)

References 61 publications

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“…The suboptimal activity of any one of these seven enzymes, because of either a defective gene or a toxic chemical effect, results in the overproduction and accumulation of the preceding intermediates, known as porphyrins or porphyrin precursors . Although these intermediates have no known useful physiologic function, they act as highly reactive oxidants (3,31), and deficiencies of the seven enzymes are linked to specific types of porphyria (3,4,29,31).…”

Section: General Backgroundmentioning

confidence: 99%

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Acute Porphyrias: A Case Report and Review

Gonzalez-Arriaza¹,

Bostwick²

2003

AJP

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As befits a hematologic class of disorders, the word "porphyria" derives from the Greek word porphuros, which means red or purple (1). The porphyrias (Table 1 and Table 2) are a group of rare metabolic disorders arising from reduced activity of any of the enzymes in the heme biosynthetic pathway. The disorders may be either acquired (for instance, through a toxin acting on one of the enzymes) or inherited through a genetic defect in a gene encoding these enzymes. These deficiencies disrupt normal heme production, with symptoms especially prominent when increased heme is required. Porphyrin precursors, overproduced in response to synthetic pathway blockages, accumulate in the body (1-31), cause diverse pathologic changes, and become the basis for diagnostic tests.In this review we focus on the two neuroporphyrias (acute intermittent porphyria and plumboporphyria) and the two neurocutaneous porphyrias (hereditary coproporphyria and variegate porphyria). These four entities, of all the porphyrias, are the only ones with neuropsychiatric manifestations. We use a case of variegate porphyria to illustrate how the manifestations may be broad, the relevance in neuropsychiatric disorders overlooked, and the diagnosis unsuspected. Given the variable and nonspecific clinical features, we emphasize the need to carefully interpret excretion patterns and concentrations of porphyrin precursors in urine and stool to make a specific diagnosis. The workup of any potential case needs to be individualized, taking into consideration both the history and the symptoms at the time of evaluation. We discuss the complexities of making a diagnosis of porphyria. Without carefully gathering a history and having a clear understanding of what laboratory tests can and cannot show, making the diagnosis will be delayed, possibly resulting in increased morbidity and use of medical and financial resources. When evaluating complicated neuropsychiatric cases of uncertain cause, we advocate maintaining a high degree of awareness for porphyria. Case PresentationMr. A, a 47-year-old, married, male florist with no significant previous medical or psychiatric history, presented to a local neurologist with a 3-month history of symptoms of apparent neurologic origin. He had had progressive loss of memory and concentration, spells of confusion, and indeterminate jerking spasms of the upper extremities and facial muscles that lasted only seconds but occurred up to 30 times per day. The neurologic examination was normal; the neurologist did not make a specific diagnosis but did prescribe nefazodone, an antidepressant.A few weeks later, psychiatric symptoms developed that were serious enough to warrant admission to a local hospital. Mr. A had paranoid delusions and auditory hallucinations. He heard animals in his room and thought the police wanted to harm him. He had hyponatremia, so before his transfer to the psychiatric ward, an internist evaluated him but offered no specific explanation for the hyponatremia. A psychiatric mood disorder was diagnosed, and Mr...

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Section: General Backgroundmentioning

confidence: 99%

“…The term "acute porphyrias" subsumes both neuroporphyrias (acute intermittent porphyria and plumboporphyria) and neurocutaneous porphyrias (hereditary coproporphyria and variegate porphyria) (1,3,4,6,7,19,21,33). Although all subtypes are rare, acute intermittent porphyria is the most common (1,4,5,7,20,21,31,(34)(35)(36).…”

Section: General Backgroundmentioning

confidence: 99%

Acute Porphyrias: A Case Report and Review

Gonzalez-Arriaza¹,

Bostwick²

2003

AJP

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“…Porphyrias are dominant autosomal with a higher prevalence in white Europeans (1:20,000), Swedish (1:10,000) and South-Africans (1:500) with more common skin manifestations in males and systemic manifestations in women, especially during pregnancy, because steroids increase D-ALA-sinthetase enzyme synthesis 12,21,22 . Acute crisis is identified by a neurological [21][22][23][24] . The high porphyria mortality rate (10%) is caused by infection, respiratory failure and arrhythmia preceding cardiac arrest 12,[22][23][24] .…”

Section: Barbiturates Anesthetic Induction and Other Drugs: Porphyrimentioning

confidence: 99%

“…Barbituratos, Indutores da Anestesia e outros Medicamentos: Crise de Porfiria As porfirias agudas decorrem de defeitos enzimáticos na biossíntese do heme com acúmulo de precursores de porfiarias que são responsáveis pela disfunção do Sistema Nervoso Central (SNC) e Periférico (SNP). As porfirias são autossô-micas dominantes com maior prevalência em brancos europeus (1:20.000), suecos (1:10.000) e sul-africanos (1:500) com manifestações cutâneas mais comuns no homem e sistêmicas na mulher, sobretudo na gravidez, pois os esterói-des aumentam a síntese da enzima D-ALA-sintetase 12,21,22 . A crise aguda consiste de disfunção neurológica pela neurotoxicidade da ALA-sintetase ou diminuição do heme intraneuronal que se faz acompanhar de dor abdominal, náusea, vô-mito, confusão mental, instabilidade autonômica e desequilíbrio hidroeletrolítico.…”

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“…Além os barbituratos, como tiopental e metohexital, podem agravar a porfiria por efeito porfirinogênico: etomidato, nitrazepam, cetamina, pentazocina, lidocaína, metoclopramida e álcool. Na anestesia do portador de porfiria, monitorização cardiorrespiratória adequada deve estar acompanhada de fármacos seguros nessa doença: bupivacaína, N 2 O, fentanil, propofol, midazolam, succinilcolina, atracúrio, vecurônio, propranolol, clorpromazina, atropina, cimetidina, SO 4 Mg e soluções glicofisiológicas [21][22][23][24] . A alta mortalidade na crise porfirínica (10%) se deve ao processo infeccioso vigente, à falência respiratória e à disritmia que precede a parada cardíaca.…”

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