RACHEL SU MIN LEE, JIA JIET CHEW1, RAPHAEL YIP1, LAWRENCE MCMAHON1,2, LIMY WONG1,2
1Department of Nephrology, Eastern Health, Box Hill, Australia, 2Department of Nephrology, Monash University Eastern Health Clinical School, Box Hill, Australia
Biography:
Bio to come
Background:
KILT syndrome—Kidney and Inferior Vena Cava (IVC) abnormalities with Leg Thromboses—is a rare and under-recognized condition involving a triad of congenital renal anomalies, IVC malformations, and venous thromboembolism. Due to its rarity and nonspecific presentation, KILT syndrome is often misdiagnosed or overlooked, and few cases have been reported in the literature.
Case Report:
We report the case of a 22-year-old woman with congenital agenesis of the infrahepatic IVC and atrophy of the right kidney, who developed extensive bilateral lower limb deep vein thromboses (DVT) and a pulmonary embolism. These events occurred shortly after starting the oral contraceptive pill, her only known risk factor. She initially presented with abdominal and lower back pain. Imaging revealed occlusive thrombi in the bilateral external and common iliac veins, the right ovarian vein, and a subsegmental pulmonary vessel. The patient underwent catheter-directed thrombolysis, initiated on therapeutic enoxaparin, and was transitioned to lifelong apixaban. Renal function remained stable (serum creatinine 87 μmol/L; eGFR 81 mL/min/1.73m²). A thrombophilia screen revealed isolated mildly elevated anti-cardiolipin antibodies, the clinical significance of which remains uncertain. Follow-up imaging at four months showed complete resolution of thromboses.
Conclusion:
KILT syndrome should be considered in young patients presenting with unprovoked or extensive thrombosis, especially in the absence of traditional risk factors. While congenital kidney anomalies often do not severely impair renal function, they do carry an increased risk for proteinuria, hypertension, and eventual decline in kidney health. Early recognition is essential for timely management and long-term anticoagulation, and regular renal monitoring is advised to detect any progressive dysfunction.