The acute intermittent porphyria is a rare but very interesting disease from the surgical and anaesthesiological point of view. On the basis of recently observed case the Authors review clinical and pathophysiological data of this entity simulating a variety of acute abdominal conditions and involving important problems from the anaesthesiological and pharmacological point of view. As a matter of fact, the administration of some drugs can provoke a crisis that often involves serious complications (coma), sometimes lethal (respiratory paralysis). However, when a patient needs a surgical treatment for different reasons, the awareness of this condition enables to plan an anaesthesiological management free of risks.
Download full-text PDF |
Source |
---|
SAGE Open Med Case Rep
January 2025
College of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.
A 15-year-old girl presented with new onset tonic-clonic seizures, encephalopathy, abdominal pain, and hypertension with a history of weight loss and emesis. Brain magnetic resonance imaging scans showed diffuse, bilateral cortical and subcortical gray and white matter signal abnormalities. Electroencephalography showed background slowing and disorganization.
View Article and Find Full Text PDFScand 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.
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 PDFCureus
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 PDFMol 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.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!