Results 41 to 50 of about 129 (113)

Acute Hepatic Porphyria in Denmark; a retrospective study [PDF]

Orphanet Journal of Rare Diseases
Abstract Background Acute hepatic porphyria (AHP) constitutes a class of rare diseases caused by reduced function in enzymes of the heme-biosynthetic pathway. AHP includes acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP) and the extremely rare δ-aminolevulinic-dehydrase deficiency porphyria (ADP ...
Magnus Emil Ulrich Wagner, Morten Frost, Jan Frystyk   +2 more
openaire   +3 more sources

Iron Overload: Pathophysiology, Diagnosis and Monitoring

International Journal of Laboratory Hematology, Volume 48, Issue 4, Page 747-756, August 2026.
ABSTRACT Iron overload is associated with significant health risks, underscoring the importance of understanding its pathophysiology as well as establishing accurate diagnostic and monitoring methods. Chronic iron overload is associated with either genetic disorders characterized by excessive iron accumulation (hereditary hemochromatosis), or is ...
Elena Chatzikalil, Polyxeni Delaporta, Konstantinos Bistas, Antonis Kattamis   +3 more
wiley   +1 more source

Advanced Management of Acute Intermittent Porphyria: The Role of Givosiran Therapy in Improving Long‐Term Outcomes‐A Case Study

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Acute intermittent porphyria is a rare disorder causing neurotoxic precursor accumulation and severe neurological complications. We report a case progressing to tetraplegia and respiratory failure with delayed diagnosis. Treatment with hemin and givosiran resulted in prevention of attacks and functional recovery, highlighting the importance of
Natália Rebeca Alves de Araújo Karpejany, Jose Tiburcio do Monte Neto, Ester Miranda Pereira, Isabel Andrea Ferreira Carvalho, Rafael Melo Santos de Serpa Brandão, Adalberto Socorro da Silva, Tiberio Silva Borges dos Santos, Semiramis Jamil Hadad do Monte   +7 more
wiley   +1 more source

Porphyria‐Safe Emergency Management in COVID‐Associated GBS‐Like Neuropathy: Why Early Medication Review Should Accompany PBG/ALA Testing

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT In COVID‐associated acute neuropathy with abdominal pain, seizures, hyponatremia, hypertension, or hepatic involvement, suspected acute intermittent porphyria should prompt both early PBG/ALA testing and immediate porphyria‐safe medication review to avoid worsening neurovisceral attacks before diagnostic confirmation.
Muhammad Abdullah Awan
wiley   +1 more source

Acute hepatic porphyria: when to perform liver transplantation?

Medicina, 2021
Acute hepatic porphyrias (AHPs) are inborn errors of hemebiosynthesis and its most common and severe type is the acute intermittent porphyria (AIP). AIP is an hereditary autosomal dominant disease caused by accumulated porphobilinogen deaminase (PBG) and
Maria Eugênia Carinhani de Cico, Amanda Macedo Sanches Mateus, Bruna Forte Giacheto, Zumira Carneiro, CHARLES MARQUES LOURENCO   +4 more
doaj  

Letter to the Editor—Comment on “Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment”

The Journal of Dermatology, EarlyView.
Ingeborg de Rover, N. Chantal Peltenburg, Johan C. M. Sweep, Janneke G. Langendonk   +3 more
wiley   +1 more source

Severe Abdominal Pain as a Prominent Clinical Manifestation of Anti‐DPPX Autoimmune Encephalitis: A Case Report and Systematic Review

Immunity, Inflammation and Disease, Volume 14, Issue 6, June 2026.
ABSTRACT Background Anti‐dipeptidyl‐peptidase‐like protein 6 encephalitis (DPPXE) is an exceptionally rare form of autoimmune encephalitis characterized by a highly heterogeneous clinical phenotype. Methods In this study, we report a Chinese patient presenting with severe abdominal pain as a prominent symptom; furthermore, we conducted a systematic ...
Difang Shi, Haohao Wu, Baogang Huang, Yan Zheng, Jia Liu, Jianjian Bao, Fengming Xu, Kang Du   +7 more
wiley   +1 more source

Erythropoietic Protoporphyria and Surgery: A Case of Successful Mastectomy With Perioperative Light Shielding Strategies Based on Light‐Induced Hemolytic Threshold Assessment

The Journal of Dermatology, Volume 53, Issue 6, Page 930-933, June 2026.
ABSTRACT A 50‐year‐old female patient was referred to our department for consultation regarding perioperative management of breast cancer surgery. She had a history of photosensitivity since childhood and was diagnosed with erythropoietic protoporphyria (EPP) during her first pregnancy.
Fumika Tateishi, Naoya Murayama, Ruri Nakamuta, Masahisa Watanabe, Aya Tanaka, Hiroyuki Murota   +5 more
wiley   +1 more source

Characterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013–2023)

Journal of International Medical Research
Introduction Acute hepatic porphyrias are rare, life-threatening genetic disorders that impair heme biosynthesis, often presenting with nonspecific symptoms that lead to misdiagnosis.
María C Martínez-Ávila, Eugenio Matijasevic-Arcila, Stefania Pantoja-Chica, Alieth L Acosta-Cardozo   +3 more
doaj   +1 more source

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

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   +1 more source