Somatic TEK variant with intraarticular venous malformation and knee hemarthrosis treated with rapamycin.

ABSTRACT:

Background

Venous malformations (VMs) are the most common vascular anomalies and have been associated with somatic variants in TEK. Current treatment of VM joint component might be challenging due to the size or location of some lesions or ineffective with recurrence of malformed veins. Targeted molecular therapies after identification of genetic defects might be an alternative.

Methods

We report a case with intraarticular bleeding due to VM with a TEK pathogenic somatic variant treated with rapamycin.

Results

A 26-year-old female patient was evaluated for right calf pain secondary to venous malformation of the right inferior limb with an intraarticular component in the right knee. Hemarthrosis and degenerative chondropathy of the knee were evidenced at MRA. Molecular

SUBMITTER: Adham S 

PROVIDER: S-EPMC9184663 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature