A rare case of KILT syndrome in Ireland: A case report

Venous thromboembolism (VTE), comprising deep vein thrombosis (DVT) and pulmonary embolism (PE), is associated with significant morbidity and mortality. Congenital absence of the inferior vena cava (IVC) is reported in current literature as a rare risk factor for DVT. The presence of kidney and IVC abnormalities on computed tomography together with lower limb thrombosis is collectively referred to as KILT syndrome (Kidney and IVC Abnormalities with Leg Thrombosis), an extremely rare cause of extensive bilateral lower limb DVT.

We present a case of KILT syndrome, diagnosed for the first time after the age of 60 years and the first case reported in the Irish population. The patient presented to the emergency department with unilateral limb pain with a prior history of provoked DVT. Clinical gestalt, a high Wells Score, and raised D-Dimer strongly supported a diagnosis of DVT. Lower limb duplex ultrasound confirmed bilateral external iliac and femoral vein thrombus, with computed tomography venography revealing an absent infrarenal IVC and atrophy of the left kidney. The medical team subsequently admitted the patient for therapeutic anticoagulation and investigation. After review by haematology, the patient was discharged on an indefinite duration of anticoagulation with follow-up with our coagulation services. In any patient with bilateral lower limb DVT, comprehensive assessment and investigation, with particular emphasis on imaging, is imperative to exclude rare associated conditions.