Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction

Jaramillo-Calle, Daniel A.; Solano, Juan Marcos; Rabinstein, Alejandro A.; Bonkovsky, Herbert L.

doi:10.1016/j.ymgme.2019.10.011

Cited by 34 publications

(48 citation statements)

References 98 publications

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“…Variants of PEPT2 have different affinities for ALA: PEPT2*1 has a higher affinity for ALA while PEPT2*2 has a lower affinity (79,80). Thus, more significant neurotoxicity may occur in PEPT2*2 carriers because they have lower ALA brain efflux (81)(82)(83). That said, PEPT2 *1 with a higher affinity for ALA is associated with an increased risk of renal disease (6,76).…”

Section: Pept2 Genementioning

confidence: 99%

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Tian

Peng

et al. 2020

IRDR

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Acute intermittent porphyria (AIP) is a dominant inherited disorder with a low penetrance that is caused by mutations in the gene coding for hydroxymethylbilane synthase (HMBS). Information about the epidemiology and molecular genetic features of this rare disorder is crucial to clinical research, and particularly to the evaluation of new treatments. Variations in the prevalence and penetrance of AIP in various studies may due to the different inclusion criteria and methods of assessment. Here, the prevalence and penetrance of AIP are analyzed systematically, and the genetic traits of different populations and findings regarding the genotype-phenotype correlation are summarized. In addition, quite a few studies have indicated that AIP susceptibility was affected by other factors, such as modifying genes. Findings regarding possible modifying genes are documented here, helping to reveal the pathogenesis of and treatments for AIP. The status of research on AIP in China reveals the lack of epidemiological and genetic studies of the Chinese population, a situation that needs to be promptly remedied.

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Section: Pept2 Genementioning

confidence: 99%

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Tian

Peng

et al. 2020

IRDR

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“…However, there have been two recent systematic reviews of case reports of acute intermittent porphyria presenting with PRES. 6 10 Most patients were women, and the mean age of presentation with PRES was 24–44 years. In both studies, the most common presenting symptom of PRES was seizure, while headaches were the least common.…”

Section: Discussionmentioning

confidence: 99%

“…12 In PRES, there may be disruption of the blood–brain barrier from endothelial damage from circulating toxins, vasospasm and reduced sympathetic innervation of blood vessels. 10 Also, hyperperfusion from hypertension above the limit of cerebral autoregulation might disrupt the blood–brain barrier and cause cerebral vasogenic oedema from extravasation of plasma. 2…”

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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“…Involvement of the CNS manifests as a combination of seizures, syndrome of inappropriate antidiuretic hormone (SIADH), posterior reversible encephalopathy syndrome (PRES), or psychiatric symptoms (agitation, hallucinations, anxiety, and depressive behaviors) (36,37). Overproduction of ALA via neurotoxicity, oxidative damage, modification of glutamatergic release, and increased metabolites of the kynurenine pathway initiates dysfunction of the CNS as mentioned above (38)(39)(40)(41).…”

Section: Nervous Systemmentioning

confidence: 99%

“…Hypothalamic impairment due to the neurotoxicity of ALA might cause SIADH, which is most often characterized by hyponatremia (37,44). Seizures can occur in the event of ALA neurotoxicity, decreased GABA activity, hyponatremia, hypertension, or PRES (36,44). ALA neurotoxicity and hyponatremia may cause psychiatric symptoms in patients with AIP.…”

Section: Nervous Systemmentioning

confidence: 99%

Therapeutic strategies for acute intermittent porphyria

Zhao

Wang

Zhang

et al. 2020

IRDR

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acute intermittent porphyria, heme, carbohydrate loading, givosiran (siRNA), mRNA therapy Acute intermittent porphyria (AIP) is an autosomal dominant disease caused by mutations in porphobilinogen deaminase (PBGD), the third enzyme of the heme synthesis pathway. Symptoms of AIP usually manifest as intermittent acute attacks with occasional neuropsychiatric crises. The management of AIP includes treatment of acute attacks, prevention of attacks, long-term monitoring and treatment of chronic complications. Intravenous injection of heme is the most effective method of treating acute attacks. Carbohydrate loading is used when heme is unavailable or in the event of mild attacks. Symptomatic treatment is also needed during attacks. Prevention of attacks includes eliminating precipitating factors, heme prophylaxis and liver transplantation. New treatment options include givosiran (siRNA) to down-regulate ALA synthase-1 (ALAS1) and the messenger RNA of PBGD (PBGD mRNA) delivered to the liver cells of patients with AIP. Long-term monitoring of chronic complications includes regular liver-kidney function and hepatocellular carcinoma (HCC) screening.

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Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction

Cited by 34 publications

References 98 publications

Recent advances in the epidemiology and genetics of acute intermittent porphyria

Recent advances in the epidemiology and genetics of acute intermittent porphyria

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

Therapeutic strategies for acute intermittent porphyria

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