Fibro-adipose vascular anomaly

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Disease Overview

A fibro-adipose vascular anomaly (FAVA) is a rare mass that develops within a muscle. It is made up of abnormal blood vessels and tough, fibrous, fatty tissue. It most often involves a single limb, which may appear slightly enlarged. Common signs and symptoms include pain, loss of mobility, and visible veins. Diagnosis is often delayed till late childhood, adolescence, or adulthood. In some cases, the anomaly is due to changes in the PIK3CA gene. In other cases the cause is not known. FAVA is not inherited. Treatment may involve surgery or freezing (cryoablation), and physical therapy. If surgery or cryoablation cannot be done, the medication, Sirolimus, may be another treatment option.[12207]


Synonyms

  • FAVA
  • Fibro adipose vascular anomaly

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National Organization for Rare Disorders