Publications by authors named "Carrie Light"
Article Synopsis
- The study analyzed 108 subjects with acute porphyrias, focusing on their clinical, biochemical, and genetic features, highlighting a significant prevalence among women and common late diagnosis.
- The most prevalent symptom was abdominal pain, with many patients undergoing unnecessary surgeries like appendectomies before receiving a proper diagnosis, which took an average of 15 years.
- Genetic testing revealed new mutations in many patients, and intravenous hematin emerged as the most effective treatment for both acute episodes and prevention of future attacks.*
