Transvenous biopsy of body cistyc lesions in a 32-year-old man with cloves syndrome and thrombocytopenia: a safe option for high bleeding risk patients

TL;DR

A 32-year-old man with CLOVES syndrome and low platelets safely underwent a transvenous biopsy to diagnose his condition.

Contribution

Presents transvenous biopsy as a safe alternative for high-bleeding-risk patients with thrombocytopenia and vascular lesions.

Findings

Transvenous biopsy confirmed PIK3CA involvement in a patient with CLOVES syndrome.

The procedure allowed safe tissue sampling without significant bleeding.

This approach can guide treatment in patients with complex vascular lesions.

Abstract

Image guided percutaneous biopsy is a standard in interventional radiology but can be limited by anatomical or clinical factors. Alternative techniques, such as transvenous biopsy, can aid in cases with these constraints, particularly in patients with thrombocytopenia.

A 32-year-old male with PIK3CA related overgrowth syndrome presenting as Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, Spinal/skeletal anomalies and/or scoliosis (CLOVES) syndrome, was admitted to the emergency department with bleeding cystic lesions and severe thrombocytopenia. The initial medical approach for patients with thrombocytopenia must be supported by a genetic or histopathologic examination, as required by insurance protocols. Percutaneous fine-needle biopsy often has low diagnostic yield in such cases. Due to the high risk of bleeding associated with thrombocytopenia and the vascular nature of the cystic lesions, direct percutaneous biopsy was contraindicated. Instead, a transvenous biopsy was performed by accessing the lesion through a venous route under image guidance, allowing for safe tissue sampling without the risk of significant hemorrhage. This approach confirmed PIK3CA involvement and guided subsequent treatment.

Transvenous biopsy serves as a safe and effective alternative to standard percutaneous biopsy in high-risk patients with thrombocytopenia and vascular lesions, enabling accurate diagnosis while minimizing bleeding complications.

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