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Acute Hepatic Porphyria – Minireview [PDF]

Modern Medicine, 2023
Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Andrei EDU, Lucian NEGREANU
doaj   +2 more sources

Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria [PDF]

Metabolites
Background: Acute hepatic porphyrias (AHPs) represent inherited metabolic disorders of the heme biosynthesis pathway, leading to neurological and systemic impairment. Despite the presence of well-recognized chronic symptoms and signs, acute neurological,
Bruno de Mattos Lombardi Badia, Paulo de Lima Serrano, João Paulo Barile, Daniel Delgado Seneor, Patrícia Marques Mendes, Renan Brandão Rambaldi Cavalheiro, Kaliny Oliveira Peixoto, Igor Braga Farias, Roberta Ismael Lacerda Machado, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Sgobbi   +11 more
doaj   +2 more sources

Efficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study [PDF]

Scientific Reports
Acute hepatic porphyria (AHP), a rare genetic disorder, causes life-threatening porphyria attacks and chronic pain and impairs daily functioning and quality of life. Recently, a new siRNA therapy, givosiran, became available for AHP.
Nobuaki Ozaki, Yoshie Goto, Norihisa Fujii, Takuro Oyama, Karen Frascello, Ana Camejo, Tomohide Adachi   +6 more
doaj   +2 more sources

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge [PDF]

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 more
wiley   +2 more sources

Pathogenesis of acute encephalopathy in acute hepatic porphyria. [PDF]

J Neurol, 2023
AbstractAcute encephalopathy (AE) can be a manifestation of an acute porphyric attack. Clinical data were studied in 32 patients during AE with or without polyneuropathy (PNP) together with 12 subjects with PNP but no AE, and 17 with dysautonomia solely.
Pischik E, Baumann K, Karpenko A, Kauppinen R.   +3 more
europepmc   +4 more sources

Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study [PDF]

Liver International, 2022
, Manisha Balwani, Paolo Ventura
exaly   +2 more sources

Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts [PDF]

Advances in Therapy, 2022
Stephen Lombardelli, Amy Simon, Stephen Meninger   +2 more
exaly   +2 more sources

Acute hepatic porphyria and anaesthesia: a practical approach to the prevention and management of acute neurovisceral attacks [PDF]

BJA Education, 2021
Noamaan Wilson-Baig
exaly   +2 more sources

The acute hepatic porphyrias [PDF]

Translational Gastroenterology and Hepatology, 2021
The acute hepatic porphyrias (AHP) are a group of four inherited diseases of heme biosynthesis. They present with similar severe, episodic, acute neurovisceral symptoms due to abnormally elevated levels of porphyrin precursors delta-aminolevulinic acid (ALA).
openaire   +2 more sources

Acute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening [PDF]

Neurohospitalist, The
Pannu Ak
exaly   +2 more sources