Fibroadipose Vascular Anomaly [FAVA] - A Distinct Entity and Not Just a Malformation!

INTRODUCTION

Fibroadipose vascular anomaly (FAVA) was described in 2014 as a distinct entity characterised by intramuscular replacement with fibro fatty tissue along with complex vascular malformation, phelbectesia, venous thrombosis and lymphatic involvement. Somatic mutations in the PIK3CA gene are detected in most lesions which diagnosed the FAVA in our report and occurrence of this mutation seems to be sporadic.

CASE REPORT

Common presentation is a painful intramuscular swelling in young women - as was the presentation here in an 11 year girl with the swelling of the right thigh. Imaging features, phleboliths and long standing history of an intramuscular malformation in the young girl that was recalcitrant to treatment at previous attempts led us towards the suspicion of a fibro adipose vascular anomaly.

CONCLUSION

Surgery with en-bloc mass excision is recommended for good long term curative option for reducing pain and regaining movements. FAVA is a rare, but specific vascular anomaly that is often misdiagnosed with other intramuscular vascular malformations and therefore poses significant management challenges. It is imperative that clinicians have a thorough understanding of FAVA in order to provide proper diagnosis and treatment referrals.