A Survey of Porphyria Among Psychiatric Patients

McEwin, Roderick; Lawn, Joanne; Jonas, Carol

doi:10.5694/j.1326-5377.1972.tb47304.x

Cited by 18 publications

(3 citation statements)

References 9 publications

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“…32 Other studies using biochemical screening have suggested a prevalence of up to 0.39% for AIP in psychiatric populations, though it is difficult to ascertain selection bias in some older studies. [33][34][35] Cederlöf et al (2015) reported a four-fold risk for manifesting AIP patients to develop SCZ or BPD, while their first-degree relatives had a two-fold risk; the authors suggest the possibility of psychiatric disorders as a latent presentation of AIP. 36 Another study found a significant correlation of generalized anxiety with porphyrin metabolite levels in latent and manifest AIP patients.…”

Section: Discussionmentioning

confidence: 99%

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

Sriretnakumar

Harripaul

Vincent

et al. 2018

Preprint

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Section: Discussionmentioning

confidence: 99%

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

Sriretnakumar

Harripaul

Vincent

et al. 2018

Preprint

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“…A widely quoted study by Tishler et al 57 introduced the discussion with the following sentence: ‘(Our) study of the prevalence of intermittent acute porphyria in patients with psychiatric illness was based on the hypothesis that intermittent acute porphyria may commonly present only as chronic and debilitating psychopathology.’ This belief had been strengthened by a number of early studies, including that of Kaelbling et al ,58 who in 1961 reported 12 patients with porphyria among 2500 patients admitted to short-term American psychiatric units, McEwin et al 59 in 1972, who reported seven patients among 1774 patients admitted to psychiatric wards in Australia, and Wetterberg who detected three cases among 1907 patients in Swedish psychiatric hospitals 60. Although, in each study, this was a handful of cases among large numbers of psychiatric patients, the observed frequencies, of 0.48%, 0.4% and 0.16% respectively, were felt to exceed the prevalence of AIP in the general population.…”

Section: Neuropsychiatric Symptoms In Porphyriamentioning

confidence: 97%

A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the ‘Royal Malady’

Hift

Meissner²

2011

J Clin Pathol

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It has been suggested that King George III of Great Britain suffered from the haem biosynthetic disorder, variegate porphyria. This diagnosis is pervasive throughout the scientific and popular literature, and is often referred to as the ‘Royal Malady.’ The authors believe it inappropriate to view the case for porphyria purely in terms of symptoms, as has generally been the case in his presumptive acute porphyria diagnosis. Accordingly, this review provides a current description of the natural history and clinical presentation of the porphyrias, against which we measure the case for porphyria in George III and his relatives. The authors have critically assessed the prevalence of porphyria in a population, the expected patterns and frequency of inheritance, its penetrance and its expected natural history in affected individuals, and conclude that neither George nor his relatives had porphyria, based on four principal reasons. First, the rarity of the disease mandates a very low prior probability, and therefore implies a vanishingly low positive predictive value for any diagnostic indicator of low specificity, such as a historical reading of the symptoms. Second, penetrance of this autosomal dominant disorder is approximately 40%, and one may expect to have identified characteristic clinical features of porphyria in a large number of descendants without difficulty. Third, the symptoms of both George III and his relatives are highly atypical for porphyria and are more appropriately explained by other much commoner conditions. Finally, the natural history of the illnesses reported in this family is as atypical for variegate porphyria as are their symptoms.

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“…Similarly, based on genomic/exomic database interrogations, a clinical penetrance of 1% was estimated for HMBS heterozygous mutations [ 15 ]. Early studies have attempted to link some mutations in genes that are causative of AHP with the presence of psychiatric illnesses in the absence of any other overt clinical manifestations [ 16 , 17 , 18 ]. Although interesting, these findings are debatable and should be reconfirmed by contemporary investigations that comply with today’s standards of diagnostic methodology.…”

Section: Introductionmentioning

confidence: 99%

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias

et al. 2021

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Porphyrias are a group of congenital and acquired diseases caused by an enzymatic impairment in the biosynthesis of heme. Depending on the specific enzyme involved, different types of porphyrias (i.e., chronic vs. acute, cutaneous vs. neurovisceral, hepatic vs. erythropoietic) are described, with different clinical presentations. Acute hepatic porphyrias (AHPs) are characterized by life-threatening acute neuro-visceral crises (acute porphyric attacks, APAs), featuring a wide range of neuropathic (central, peripheral, autonomic) manifestations. APAs are usually unleashed by external “porphyrinogenic” triggers, which are thought to cause an increased metabolic demand for heme. During APAs, the heme precursors δ-aminolevulinic acid (ALA) and porphobilinogen (PBG) accumulate in the bloodstream and urine. Even though several hypotheses have been developed to explain the protean clinical picture of APAs, the exact mechanism of neuronal damage in AHPs is still a matter of debate. In recent decades, a role has been proposed for oxidative damage caused by ALA, mitochondrial and synaptic ALA toxicity, dysfunction induced by relative heme deficiency on cytochromes and other hemeproteins (i.e., nitric oxide synthases), pyridoxal phosphate functional deficiency, derangements in the metabolic pathways of tryptophan, and other factors. Since the pathway leading to the biosynthesis of heme is inscribed into a complex network of interactions, which also includes some fundamental processes of basal metabolism, a disruption in any of the steps of this pathway is likely to have multiple pathogenic effects. Here, we aim to provide a comprehensive review of the current evidence regarding the mechanisms of neuronal damage in AHPs.

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A Survey of Porphyria Among Psychiatric Patients

Cited by 18 publications

References 9 publications

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

Enrichment of gene variants associated with treatable genetic disorders in psychiatric populations

A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the ‘Royal Malady’

Mechanisms of Neuronal Damage in Acute Hepatic Porphyrias

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