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AGA Clinical Practice Update on Diagnosis and Management of Acute Hepatic Porphyrias: Expert Review.
Wang B, Bonkovsky HL, Lim JK, Balwani M. Wang B, et al. Gastroenterology. 2023 Mar;164(3):484-491. doi: 10.1053/j.gastro.2022.11.034. Epub 2023 Jan 13. Gastroenterology. 2023. PMID: 36642627 Free PMC article. Review.
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulini …
DESCRIPTION: The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent …
Givosiran for the treatment of acute hepatic porphyria.
Ricci A, Ventura P. Ricci A, et al. Expert Rev Clin Pharmacol. 2022 Apr;15(4):383-393. doi: 10.1080/17512433.2022.2075848. Epub 2022 May 11. Expert Rev Clin Pharmacol. 2022. PMID: 35531651 Review.
EXPERT OPINION: Givosiran is a small interfering RNA (siRNA) therapeutic that reduces hepatic activity of ALAS1 and decreases accumulation of neurotoxic porphyrin precursors in patients with AHPs, ultimately reducing the number of acute attacks and improving symptom …
EXPERT OPINION: Givosiran is a small interfering RNA (siRNA) therapeutic that reduces hepatic activity of ALAS1 and decreases accumul …
Expert consensus statement on acute hepatic porphyria in Belgium.
Gilles A, Vermeersch S, Vermeersch P, Wolff F, Cotton F, Tilleux S, Cassiman D. Gilles A, et al. Acta Clin Belg. 2022 Aug;77(4):735-741. doi: 10.1080/17843286.2021.1961056. Epub 2021 Aug 7. Acta Clin Belg. 2022. PMID: 34369323
Acute hepatic porphyrias (AHP) are a group of four different rare to ultra-rare, severely debilitating, and sometimes fatal diseases that significantly impact patients' lives: 5-aminolevulinic acid (ALA) dehydratase deficiency porphyria (ADP), acute interm …
Acute hepatic porphyrias (AHP) are a group of four different rare to ultra-rare, severely debilitating, and sometimes fatal diseases …
Hyperhomocysteinemia in acute hepatic porphyria (AHP) and implications for treatment with givosiran.
Ventura P, Sardh E, Longo N, Balwani M, Plutzky J, Gouya L, Phillips J, Rhyee S, Fanelli MJ, Sweetser MT, Petrides PE. Ventura P, et al. Expert Rev Gastroenterol Hepatol. 2022 Sep;16(9):879-894. doi: 10.1080/17474124.2022.2110469. Epub 2022 Aug 25. Expert Rev Gastroenterol Hepatol. 2022. PMID: 35929959 Free article.
Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported in patients with acute hepatic porphyria (AHP), a family of rare genetic disorders caused by defects in hepatic heme biosynthesis. ...
Plasma homocysteine elevation, hyperhomocysteinemia (HHcy), has been reported in patients with acute hepatic porphyria (AHP), …
Self-efficacy and self-management strategies in acute intermittent porphyria.
Hammersland MH, Aarsand AK, Sandberg S, Andersen J. Hammersland MH, et al. BMC Health Serv Res. 2019 Jul 3;19(1):444. doi: 10.1186/s12913-019-4285-9. BMC Health Serv Res. 2019. PMID: 31269991 Free PMC article.
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene. ...
BACKGROUND: Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by …
Diagnosis and Treatment of Acute Intermittent Porphyria.
Bai J, Wang ZH. Bai J, et al. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2017 Dec 20;39(6):836-840. doi: 10.3881/j.issn.1000-503X.2017.06.017. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2017. PMID: 29338831 English.
Acute intermittent porphyria (AIP) is a metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase. Its clinical manifestations include acute abdominal pain,neuropsychological abnormalities,and red urine. ...
Acute intermittent porphyria (AIP) is a metabolic disease caused by hepatic deficiency of hydroxymethylbilane synthase. …
Best practice guidelines on clinical management of acute attacks of porphyria and their complications.
Stein P, Badminton M, Barth J, Rees D, Stewart MF; British and Irish Porphyria Network. Stein P, et al. Ann Clin Biochem. 2013 May;50(Pt 3):217-23. doi: 10.1177/0004563212474555. Ann Clin Biochem. 2013. PMID: 23605132
The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of acute porphyria attacks and their complications, including severe attacks with neuropathy. Acute attacks of porphyr …
The British and Irish Porphyria Network guidelines describe best practice in the clinical assessment, investigation and management of …
Role of genetic testing in the management of patients with inherited porphyria and their families.
Whatley SD, Badminton MN. Whatley SD, et al. Ann Clin Biochem. 2013 May;50(Pt 3):204-16. doi: 10.1177/0004563212473278. Ann Clin Biochem. 2013. PMID: 23605133 Review.
The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of symptoms. The role of genetic testing in the autosomal dominant acute porphyrias (acute intermittent porphyria, heredi …
The primary diagnosis in the proband is based on biochemical testing of appropriate samples, preferably during or soon after onset of sympto …
Long-term management and treatment of acute intermittent porphyria with recurring attacks using pharmacological prophylaxis.
Kuo HC, Ro LS, Lin CN, Chen HY. Kuo HC, et al. Hepatol Commun. 2023 Dec 1;7(12):e0327. doi: 10.1097/HC9.0000000000000327. eCollection 2023 Dec 1. Hepatol Commun. 2023. PMID: 38051544 Free PMC article.
BACKGROUND: There is no definitive guidance on whether patients with acute intermittent porphyria (AIP) with recurrent attacks need pharmacological prophylactic treatment. METHODS: The management strategies for patients with frequent (defined as 4 annualized …
BACKGROUND: There is no definitive guidance on whether patients with acute intermittent porphyria (AIP) with recurrent …
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K, Kauppinen R. Baumann K, et al. Mol Genet Metab. 2020 May;130(1):87-99. doi: 10.1016/j.ymgme.2020.02.003. Epub 2020 Feb 10. Mol Genet Metab. 2020. PMID: 32067921
Penetrance for hospitalized attacks was 30% among AIP families (range 10-80%, for women 41%) and 25% in VP (range 0-50%, for women 27%) demonstrating wide variations among families even with the similar genotype. Acute porphyria was diagnosed at the median age of 26 …
Penetrance for hospitalized attacks was 30% among AIP families (range 10-80%, for women 41%) and 25% in VP (range 0-50%, for women 27%) demo …
40 results