On the occasion of a clinical case of acute porphyria, the authors review the present knowledge on the biochemistry, pathophysiology, clinical picture, diagnosis and therapy of this group of disorders. They stress their importance in psychiatry and present two lists of authorized vs contra-indicated drugs in these disorders.
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Scand J Gastroenterol
January 2025
Department of Gastroenterology, Hepatology, and Nutrition, Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, OH, USA.
Background: Irritable bowel syndrome (IBS) is a common gastrointestinal disorder seen by both primary care providers (PCPs) and gastroenterologists, and further diagnostic testing is generally discouraged unless red-flag symptoms are present.
Aims: Examine if advanced serologic testing for chronic abdominal pain in IBS patients followed society-specific guidelines and evaluate the diagnostic accuracy of these tests.
Methods: The study involved a retrospective cross-sectional analysis of adults aged 18 and older who were seen at our institution between 2013 and 2018.
Rev Med Chil
September 2024
Hospital de Niños Dr. Roberto del Río, Santiago, Chile.
Hereditary tyrosinemia type 1 (HT-1) is an inborn error of metabolism caused by a defect in tyrosine (tyr) degradation. This defect results in the accumulation of succinylacetone (SA), causing liver failure with a high risk of hepatocarcinoma and kidney injury, leading in turn to Fanconi syndrome with urine loss of phosphate and secondary hypophosphatemic rickets (HR). HT-1 diagnosis is usually made in infants with acute or chronic liver failure or by neonatal screening programs.
View Article and Find Full Text PDFMol 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 PDFIran 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.
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.
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