Speaker Credentials
MS-III
College
College of Allopathic Medicine
Medical Specialty
Pediatrics
Format
Poster
Start Date
November 2024
End Date
November 2024
Track
2
Abstract
Introduction. Variegate Porphyria (VP) is a rare autosomal dominant disorder characterized by mutations in the protoporphyrinogen oxidase (PPOX) gene, leading to dysfunctional heme biosynthesis. The clinical manifestations of VP are highly variable, including significant neurovisceral symptoms and cutaneous photosensitivity. This variability reflects the disease's ability to often go undiagnosed, especially in pediatric populations where the disease is not frequently seen in clinical practice. Case Presentation. This case study focuses on a 12-year-old male who presented with persistent photosensitivity, painful blistering, severe abdominal pain, and dark-colored urine. Despite normal renal and liver serology testing, elevated porphyrin levels in both urine and stool samples supported the presumptive diagnosis of VP. However, due to significant delays in diagnosis, the patient was frequently hospitalized secondary to recurrent acute attacks. Deviation From the Expected: This case deviates from the typical presentation of VP due to its early onset in a pediatric patient, as VP is most commonly diagnosed in adulthood. The complexity of VP often results in diagnostic delays due to the vague symptoms that oftentimes represent other medical conditions. Discussion. Our case emphasizes the importance of a thorough clinical evaluation, family history, and awareness of this rare disorder. Laboratory studies made VP the most likely diagnosis. Management strategies, including sun protection and beta-carotene supplementation, were implemented to mitigate the risk of acute attacks. Conclusion. This study emphasizes the need for increased awareness and understanding of VP, aiming to promote earlier diagnoses and improve patient outcomes through timely and appropriate interventions.
Included in
Case Study: Navigating the Complexities of Variegate Porphyria
Introduction. Variegate Porphyria (VP) is a rare autosomal dominant disorder characterized by mutations in the protoporphyrinogen oxidase (PPOX) gene, leading to dysfunctional heme biosynthesis. The clinical manifestations of VP are highly variable, including significant neurovisceral symptoms and cutaneous photosensitivity. This variability reflects the disease's ability to often go undiagnosed, especially in pediatric populations where the disease is not frequently seen in clinical practice. Case Presentation. This case study focuses on a 12-year-old male who presented with persistent photosensitivity, painful blistering, severe abdominal pain, and dark-colored urine. Despite normal renal and liver serology testing, elevated porphyrin levels in both urine and stool samples supported the presumptive diagnosis of VP. However, due to significant delays in diagnosis, the patient was frequently hospitalized secondary to recurrent acute attacks. Deviation From the Expected: This case deviates from the typical presentation of VP due to its early onset in a pediatric patient, as VP is most commonly diagnosed in adulthood. The complexity of VP often results in diagnostic delays due to the vague symptoms that oftentimes represent other medical conditions. Discussion. Our case emphasizes the importance of a thorough clinical evaluation, family history, and awareness of this rare disorder. Laboratory studies made VP the most likely diagnosis. Management strategies, including sun protection and beta-carotene supplementation, were implemented to mitigate the risk of acute attacks. Conclusion. This study emphasizes the need for increased awareness and understanding of VP, aiming to promote earlier diagnoses and improve patient outcomes through timely and appropriate interventions.