Advanced epithelioid haemangioendothelioma in a child presenting as deep vein thrombosis

BMJ Case Rep. 2024 Dec 4;17(12):e260711. doi: 10.1136/bcr-2024-260711.

Abstract

Venous thromboembolism (VTE) is a rare event in children and does not usually trigger investigation for malignancy. We report the case of a previously healthy female teenager presenting with unilateral leg swelling. Colour-Doppler ultrasound confirmed deep vein thrombosis (DVT), and the thrombophilia workup was negative. Cross-sectional imaging identified multiple liver and lung lesions, diagnosed as epithelioid haemangioendothelioma (EHE) at biopsy. Lifelong anticoagulation was commenced; the patient was initially observed and then started on sirolimus at disease progression. We describe the first published case of EHE presenting with DVT in a child. Clinicians need to be mindful of the association between cancer and thrombosis, even in paediatric patients.

Keywords: Haematology (incl blood transfusion); Paediatric oncology; Paediatrics.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Anticoagulants / therapeutic use
  • Diagnosis, Differential
  • Female
  • Hemangioendothelioma, Epithelioid* / complications
  • Hemangioendothelioma, Epithelioid* / diagnosis
  • Hemangioendothelioma, Epithelioid* / diagnostic imaging
  • Humans
  • Liver Neoplasms / complications
  • Liver Neoplasms / diagnosis
  • Liver Neoplasms / diagnostic imaging
  • Liver Neoplasms / pathology
  • Lung Neoplasms / complications
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / pathology
  • Sirolimus / therapeutic use
  • Ultrasonography, Doppler, Color
  • Venous Thrombosis* / diagnosis
  • Venous Thrombosis* / diagnostic imaging
  • Venous Thrombosis* / drug therapy

Substances

  • Anticoagulants
  • Sirolimus