Fibro-Adipose Vascular Anomaly, or FAVA for short, is a disorder found on the extremities of the body. It is most commonly found on the lower limbs and is characterized by pain and/or enlargement at a concentrated area of the body. “Fibro-Adipose” refers to a fibrous, fatty tissue while “vascular anomaly” refers to an abnormal network of veins; therefore, Fibro-Adipose Vascular Anomaly is a condition where where fibrous, fatty tissue and an abnormal dilation of veins replace an area where muscles normally grow (Ferreira, 2020). FAVA is found more common in females than in males, at a ratio of 3:1, and can be treated with surgical resection to alleviate pain. During childhood, FAVA usually remains asymptomatic. However, FAVA can be diagnosed during infancy, and patients in these cases usually experience more severe symptoms. Patients with FAVA can experience other pain in the nearby skin — for example, patients with calf lesions may have limited ankle dorsiflexion (Alomari, 2014).
Though similar, there are a couple key differences between a FAVA and a venous malformation (VM).
Symptoms can range from severe pain in the affected area to limited flexion (difficulty bending or extending the limb). Because a VM or Lymphatic malformation (LM) may also be present in the area, symptoms associated with VMs or LMs may contribute as well.
Cause and Origin
While the exact cause is still unknown, research has found that FAVA disorders usually contain a mutation in the PiK3, AKT, or mTOR cell signaling pathways. Research also shows that this is a spontaneous mutation and therefore not inherited.
At this time, there is no standardized method of treating FAVA. However, clinicians have performed surgical resections (taking out the fibrous, fatty tissue) as well as image-guided percutaneous cryoablation (a procedure where a clinician partially freezes a FAVA lesion) to control and reduce the symptoms associated with FAVA (Shaikh, 2016).
Additional Resources / Sources