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Lethal outcomes in Klippel-Trenaunay syndrome
Arivarasan Karunamurthy1, Liron Pantanowitz, Jorge Guzman Lepe
1Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
Summary
Klippel-Trenaunay syndrome (KTS) can lead to severe, life-threatening complications, including hemorrhage and cancer, in rare cases. These unusual KTS manifestations highlight the importance of long-term monitoring for patients with this congenital vascular disorder.
Area of Science:
- Vascular Medicine
- Congenital Disorders
- Medical Case Reports
Background:
- Klippel-Trenaunay syndrome (KTS) is a rare congenital disorder characterized by vascular malformations, leading to limb hypertrophy.
- While typically presenting in infancy, KTS can have long-term consequences that are rarely reported.
Observation:
- This report details two patients with KTS experiencing severe, uncommon, and fatal complications.
- One patient underwent amputation and later died from intra-abdominal hemorrhage due to splenic vascular malformations.
- The second patient developed angiosarcoma in the setting of chronic lymphedema and died from hemorrhage due to leg vessel rupture.
Findings:
- Long-term KTS can result in significant morbidity and mortality from unusual manifestations.
- Lethal hemorrhage, organomegaly from vascular malformations, and vascular neoplasia are risks associated with chronic KTS and lymphedema.
Implications:
- These cases underscore the potential for severe and fatal outcomes in Klippel-Trenaunay syndrome.
- Awareness of these rare complications is crucial for managing patients with KTS, emphasizing the need for vigilant, long-term follow-up.
- Further research into the long-term pathology and management of KTS is warranted.
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