Acute Intermittent Porphyria

Regan, Laura A.; Gonsalves, Lilian; Tesar, George

doi:10.1016/s0033-3182(99)71193-x

Cited by 19 publications

(20 citation statements)

References 7 publications

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“…Among patients with acute porphyria, 20%-58% have neuropsychiatric symptoms during acute exacerbations (34,35,37). Neuropsychiatric symptoms were predominant in our patient's clinical presentation.…”

Section: Clinical Manifestationsmentioning

confidence: 62%

“…Although all subtypes are rare, acute intermittent porphyria is the most common (1,4,5,7,20,21,31,(34)(35)(36). All four are characterized by recurrent acute attacks (1,4,6,7), and their clinical manifestations are variable (1,4,34,37). Symptoms may vary considerably in the same patient during different episodes, as well as among patients with the same porphyria subtype.…”

Section: General Backgroundmentioning

confidence: 99%

“…Because the clinical course can vary from acute, self-limiting attacks to attacks that result in chronic or progressive deficits (1,37), the attacks may mimic many other psychiatric or medical disorders, making the potential for misdiagnosis great (1,4,16,34,35,37,38). The four acute porphyrias are clinically indistinguishable during acute attacks (1,3,4,6,7,15,17,34,(39)(40)(41)(42), particularly because patients with variegate porphyria and hereditary coproporphyria may not exhibit dermatologic changes (1,4,6,7,34,37,40,43). Skin lesions accompany acute attacks in about one-half of the patients with variegate porphyria and in about one-third of the patients with hereditary coproporphyria (4,40,42).…”

Section: General Backgroundmentioning

confidence: 99%

“…Skin lesions accompany acute attacks in about one-half of the patients with variegate porphyria and in about one-third of the patients with hereditary coproporphyria (4,40,42). The variability of the clinical course, the lack of understanding of an appropriate diagnostic process, and the lack of a universally accepted standard for test result interpretation add to the difficulty of making a diagnosis (1,37).…”

Section: General Backgroundmentioning

confidence: 99%

“…Abdominal pain, peripheral neuropathy, and changes in mental status are the classic triad of an acute attack (37). Severe abdominal pain is the most commonly reported presenting symptom during acute attacks (4,7,8,18,31,34,51).…”

Section: Clinical Manifestationsmentioning

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: Clinical Manifestationsmentioning

confidence: 62%

Section: General Backgroundmentioning

confidence: 99%

Section: General Backgroundmentioning

confidence: 99%

Section: General Backgroundmentioning

confidence: 99%

Section: Clinical Manifestationsmentioning

confidence: 99%

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Acute Porphyrias: A Case Report and Review

Gonzalez-Arriaza¹,

Bostwick²

2003

AJP

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Indications and Contraindications of the Ketogenic Diet

Bergqvist¹

2004

Epilepsy and the Ketogenic Diet

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Anxiety and depression in the acute porphyrias

Millward

Kelly

King

2005

J of Inher Metab Disea

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A previous study of self-rated psychosocial aspects in patients with acute porphyria found that depression, and particularly anxiety, is more common in porphyria patients than in the general population or general medical outpatient attenders. Nearly half of the sample (46%) reported at least some problem with anxiety and/or depression: anxiety caseness was 26% and depression caseness was 13%. This paper extends our previous observations and investigates further the associations between porphyria and anxiety, depression and general mental health in 90 patients (58 acute intermittent porphyria, 32 variegate porphyria). The findings of this study confirm that anxiety is raised in patients with acute intermittent porphyria and with variegate porphyria, in both males and females, compared to the normative population and, using a series of questionnaires exploring the physical and psychosocial features of anxiety, that this anxiety is experienced as a 'relatively stable personality trait', rather than a 'transitory emotional state' (i.e. intrinsic rather than secondary to the porphyria).

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Acute Intermittent Porphyria

Cited by 19 publications

References 7 publications

Acute Porphyrias: A Case Report and Review

Acute Porphyrias: A Case Report and Review

Indications and Contraindications of the Ketogenic Diet

Anxiety and depression in the acute porphyrias

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