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Patient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.
Mol Genet Metab Rep
March 2025
Alnylam Pharmaceuticals, Maidenhead, UK.
Background: Acute hepatic porphyria (AHP) is characterized by debilitating and potentially life-threatening neurovisceral attacks, possible chronic symptoms, and long-term complications. In a phase 1/2 open-label extension (OLE) study and the phase 3 ENVISION study, givosiran led to sustained improvement in annualized attack rate and quality of life (QOL) measures. To capture the patient experience of symptoms and impacts of AHP, and any changes experienced during treatment with givosiran, qualitative interviews were conducted with study participants.
View Article and Find Full Text PDFClinical Advantages of Phlebotomy: An Umbrella Review of Meta-Analyses.
Iran J Public Health
December 2024
Department of Traditional Medicine, School of Persian Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Background: Phlebotomy has been used as a non-pharmacological treatment for different types of diseases, regarding the philosophy of humors in traditional medicines, such as Persian Medicine. However, according to the narrow-approved indications for phlebotomy in Western Medicine, we aimed to systematically summarize high-level of evidence on safety and efficacy of phlebotomy in treatment of human diseases.
Methods: In this umbrella review, to identify meta-analysis studies of clinical trials on phlebotomy, four electronic databases, including PubMed, web of science, Scopus, and Cochran library were searched until Jun 18, 2022 with relevant keywords for 'phlebotomy' and 'meta-analysis' according to PRISMA guidelines and PICO questions.
Diagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study.
Cureus
November 2024
Pediatrics, West Virginia School of Osteopathic Medicine, Lewisburg, USA.
Porphyria is a rare and often underdiagnosed metabolic disorder that leads to abdominal pain, pelvic pain, changes in neurological states, and digestive issues due to a buildup of porphyrins in the body. Diagnosis can be especially difficult in young women, where symptoms of porphyria often overlap with gynecological conditions. We present a case of a 37-year-old female patient who was experiencing persistent lower abdominal and pelvic pain, brain fog and confusion, and a rash after long sun exposure.
View Article and Find Full Text PDFAcute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.
Cureus
November 2024
Internal Medicine-Pediatrics, University of California Los Angeles, Los Angeles, USA.
Acute intermittent porphyria (AIP) is a rare inherited metabolic disorder caused by decreased activity of the enzyme porphobilinogen deaminase in the heme synthesis pathway. This leads to the accumulation of toxic porphyrin precursors, such as porphobilinogen and δ-aminolevulinic acid. Clinical manifestations typically include episodic bouts of severe neurovisceral pain and autonomic dysfunction.
View Article and Find Full Text PDFBaseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Mol Genet Metab Rep
December 2024
Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and College of Medicine, Chang Gung University, Taoyuan, Taiwan.
Introduction: For patients with acute intermittent porphyria (AIP), a true attack could be difficult to distinguish from chronic abdominal pain. This study focused on treatment responses from two patients with confirmed elevated biochemical data (delta-aminolevulinic acid (ALA), porphobilinogen (PBG)) and clinical evidence for acute attacks before starting givosiran.
Methods: Data from patients who participated in the phase III givosiran trial in Taiwan between May 2018 and May 2021 were reviewed.
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