Porphyria: often discussed but too often missed

O’Malley, Ronan; Rao, Ganesh; Stein, Penelope E.; Bandmann, Oliver

doi:10.1136/practneurol-2017-001878

Cited by 40 publications

(51 citation statements)

References 40 publications

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“…3 4 6 Apart from autonomic neuropathy, the next most common neurological feature is peripheral neuropathy, presenting as generalised paraesthesia and muscle weakness, and complicating 10–40% of presentations. 7 The most severe complication is ventilatory muscle failure and tetraparesis from severe motor polyneuropathy.…”

Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

2020

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Acute intermittent porphyria is a rare genetic condition in which disrupted haem synthesis causes overproduction of porphyrin precursors. Occasionally, it is associated with posterior reversible encephalopathy syndrome (PRES), presenting with headache, confusion, seizures and visual disturbance. We describe a patient with acute intermittent porphyria who presented with seizures and PRES, and who had previous unexplained severe abdominal pain. Acute intermittent porphyria should be considered as a possible cause of PRES, especially in those with unexplained abdominal pain, since delays in its diagnosis can result in permanent complications.

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Section: Discussionmentioning

confidence: 99%

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

2020

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“…All positive tests should be confirmed by quantitative method, usually by anion exchange chromatography and preferably on the same urine sample. 10 The mainstay of treatment is avoidance of porphyrinogenic agents, supportive therapy, and reduction of the activity of the heme synthetic pathway. IV hematin is used in severe attacks.…”

Section: Discussionmentioning

confidence: 99%

“…9 In mild attacks, with no vomiting, weakness, or hyponatremia, high doses of IV glucose can inhibit heme synthesis and are useful for treatment, and preferable to heme preparations as the treatment of choice for an acute attack of porphyria, owing to fewer side effects. 4,8,10 Early diagnosis and prompt treatment ensure reduced morbidity and mortality.…”

Section: Discussionmentioning

confidence: 99%

Pearls & Oy-sters: Guillain-Barré syndrome

Ponciano¹,

Carvalho²,

Gala³

et al. 2020

Neurology

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Porphyria is a rare disorder of heme metabolism and clinical manifestations are determined by the accumulation of porphyrin precursors. c The best management is through prevention, mainly by avoidance of precipitating factors, such as alcohol intake, cytochrome P450-inducing agents, hormone treatments, and starvation. c The mainstay of treatment is IV hematin but IV glucose should also be considered in the context of an acute attack.

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“…Several previous studies have characterized the disease and disease burden [2,3,7,[11][12][13], with a focus on patients experiencing recurrent attacks [3,11,12]. Disease characteristics in patients having fewer attacks are less well understood [14].…”

Section: Introductionmentioning

confidence: 99%

Patient and Caregiver Experiences of Living With Acute Hepatic Porphyria in the UK: A Mixed-Methods Study

Gill

Burrell

Chamberlayne

et al. 2020

Preprint

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BackgroundThis study used quantitative and qualitative research methods to analyze how acute hepatic porphyria (AHP) affects patients with varying annualized porphyria attack rates (AARs). The overall impact of AHP on patients and caregivers, including their quality of life, was explored. The nature and treatment of acute attacks, experiences of long-term heme arginate treatment and access to other appropriate treatment, as well as the extent of, and treatment for, chronic symptoms, were also included within this study. MethodsPatient and caregiver data were collected via an online survey of members of the British Porphyria Association, followed by an optional one-hour telephone interview. ResultsThirty-eight patients and 10 caregivers responded to the survey. Of those, 10 patients and three caregivers completed follow-up interviews. Overall, 19 patients (50%) had experienced an acute attack within the previous two years, and the severity and types of symptoms experienced during or between acute attacks varied considerably. There was no clear definition among patients or caregivers of a ‘mild’ or ‘severe’ attack. Treatment used to manage attacks also varied, and previous experience with hospital care while managing an attack also affected whether a patient chose to return to hospital or manage the attack at home. Managing the attack at home is therefore not a signifier of the severity of the attack itself. Ninety-four percent of patients also experienced chronic symptoms, which were as varied as acute attacks. Pain was the predominant chronic symptom and was managed with opioids in severe cases. Regardless of AAR, porphyria heavily impacted the daily lives of patients and caregivers. Although patients experiencing frequent attacks generally endured a greater impact on their daily life, patients with less frequent attacks also experienced impacts on all domains (social, pain, discomfort, mobility, diet, relationship with family, relationships, psychological wellbeing, finances, employment and study). Caregivers were most affected in finance, relationships with family and employment domains, and just over half of the caregivers reported a moderate impact on their psychological wellbeing. Conclusions/implicationsThe burden of illness with AHP is high across all patients, regardless of frequency of attacks, and AHP negatively affects patients and caregivers alike.

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Porphyria: often discussed but too often missed

Cited by 40 publications

References 40 publications

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome (PRES) and abdominal pain

Pearls & Oy-sters: Guillain-Barré syndrome

Patient and Caregiver Experiences of Living With Acute Hepatic Porphyria in the UK: A Mixed-Methods Study

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