Thesis Abstract

Abstract
Acute hepatic porphyrias are a group of rare metabolic disorders characterized by a deficiency of one of the enzymes involved in the heme biosynthesis pathway. These disorders can lead to the accumulation of porphyrins and their precursors, causing a wide range of symptoms, including abdominal pain, neuropathy, and psychiatric manifestations. While acute hepatic porphyrias are relatively rare, they can have a significant impact on patients' quality of life and may even be life-threatening if not promptly diagnosed and managed. In this study, we conducted a retrospective analysis of 101 patients diagnosed with acute hepatic porphyrias in Colombia. The aim of the study was to characterize the clinical features, diagnostic methods, and treatment outcomes of patients with these rare disorders. Our analysis revealed that the most common type of acute hepatic porphyria in our cohort was acute intermittent porphyria, followed by variegate porphyria and hereditary coproporphyria. The clinical presentation of acute hepatic porphyrias varied widely among patients, with abdominal pain being the most common symptom reported. Neurological symptoms, including peripheral neuropathy and psychiatric manifestations, were also frequently observed in our cohort. Interestingly, a significant proportion of patients had a family history of porphyria, highlighting the importance of genetic counseling and screening in at-risk populations. Diagnostic testing for acute hepatic porphyrias included measurements of urinary porphyrin precursors, as well as genetic testing to identify specific enzyme deficiencies. Treatment strategies for acute hepatic porphyrias focused on symptom management and the prevention of acute attacks. Hematin infusions were commonly used to reduce porphyrin production, while medications such as gabapentin and carbamazepine were prescribed to alleviate neuropathic pain. Overall, our study provides valuable insights into the clinical characteristics and management of acute hepatic porphyrias in Colombia. By increasing awareness of these rare disorders among healthcare providers, we aim to improve the timely diagnosis and treatment of patients with acute hepatic porphyrias, ultimately leading to better outcomes and quality of life for affected individuals. Further research is needed to better understand the genetic and environmental factors influencing the presentation and progression of acute hepatic porphyrias in diverse populations.

Thesis Overview