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Review
. 2020 Nov;9(4):205-216.
doi: 10.5582/irdr.2020.03089.

Therapeutic strategies for acute intermittent porphyria

Lanlan Zhao  1 , Xinyang Wang  1 , Xiaoning Zhang  1 , Xiantao Liu  1 , Ningzhen Ma  1 , Yiran Zhang  2 , Songyun Zhang  1
Affiliations
Review

Therapeutic strategies for acute intermittent porphyria

Lanlan Zhao et al. Intractable Rare Dis Res. 2020 Nov.

Abstract

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.

Keywords: acute intermittent porphyria; carbohydrate loading; givosiran (siRNA); heme; mRNA therapy.

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References

    1. Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med. 2017; 377:862-872. - PubMed
    1. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010; 375:924-937. - PubMed
    1. Harper P, Sardh E. Management of acute intermittent porphyria. Expert Opinion on Orphan Drugs. 2014; 2:349-368.
    1. Bonkovsky HL, Guo JT, Hou W, Li T, Thapar M. Porphyrin and heme metabolism and the porphyrias. Compr Physiol. 2013; 3:365-401. - PubMed
    1. Meyer U, Schuurmans M, Lindberg R. Acute porphyrias: Pathogenesis of neurological manifestations. Semin Liver Dis. 1998; 18:43-52. - PubMed