Fibroadipose vascular anomaly (FAVA) is an intramuscular vascular anomaly consisting of phlebectasia (dilatation of veins) and fibrofatty replacement of muscle which was first described in 2014. It is in the "provisionally unclassified" category of the ISSVA classification of vascular anomalies.
On this page:
Terminology
Though the term fibroadipose vascular anomaly was only coined in 2014, patients with similar clinical and radiopathological entities have been described for several decades with inaccurate terms such as "intramuscular haemangiomas" 1. As with all vascular anomalies, the relative rarity of such lesions makes accurate diagnosis difficult, even for experienced physicians.
Epidemiology
Fibroadipose vascular anomaly has been described from birth to early adulthood. The largest case series published so far 1 showed a greater than 4:1 predilection for females.
Clinical presentation
Patients with fibroadipose vascular anomaly typically have constant severe pain, and often present with contracture of the affected muscular segments. This is in contrast to the more common venous malformations of the soft tissues, which typically have mild, episodic pain. Most patients with calf involvement have limited ankle dorsiflexion (equinus deformity).
Anatomically, the lesion has been described most commonly in the calf musculature. It can also present in the forearm and thigh.
Pathology
Macroscopically, the lesion can involve one of multiple limb muscles with extensive fibrotic changes and frequent involvement of fascial planes, nerves, subcutaneous tissues and extramuscular extension. The phlebectasia can be within the muscular component or in the adjacent subcutaneous tissue.
Histologically, there is often dense fibrous tissue, fatty replacement, muscular atrophy, dysplastic veins and lymphoplasmacytic aggregates in the skeletal muscle. Small lymphatic malformations can be also associated, as can thrombi and phleboliths. It is caused by an activating somatic mutation in PIK3CA, and some authors consider it part of the PIK3CA-related overgrowth spectrum (PROS) 5.
Radiographic features
Radiography
Plain radiography is usually normal, but can demonstrate reactive bone changes adjacent to fibroadipose vascular anomaly.
Ultrasound
Ultrasound typically demonstrates a heterogeneous hyperechoic intramuscular mass lesion with loss of the normal fibrillary skeletal muscle pattern. Dilated veins are easily depicted. When present, ultrasound readily shows phleboliths. fibroadipose vascular anomaly lesions do not demonstrate enhanced arterial flow on Doppler.
MRI
Typically, a soft tissue mass is seen centred in skeletal muscle. There is usually fatty replacement of muscle seen as heterogeneous moderately high signal on T1 and T2 weighted images. The lesion usually shows enhancement after gadolinium administration. There can be isolated muscle involvement or transfascial extension with or without subcutaneous involvement. Dilated tortuous veins are often seen within or adjacent the mass with either normal or dilated drainage veins. Reactive bone change can be seen.
Angiography
Venography can be either normal or show dilated tortuous veins draining into normal or dilated orthotopic veins. There should not be associated increased arterial flow or arteriovenous shunting.
Treatment and prognosis
Sclerotherapy has been successful in treating the abnormal veins in fibroadipose vascular anomaly, but does not resolve the prominent fibrofatty component. Therefore, the remaining contractures often require operative therapy and physiotherapy. Cryoablation has also been recently attempted with promising results 4.
Differential diagnosis
venous malformation: these are typically compressible at ultrasound, less painful, and very high T2 signal on MRI
PTEN hamartoma of soft tissue (PHOST): patients usually have other features of a syndromic PTEN-related disease such as Bannayan-Riley-Ruvalcaba syndrome or Cowden syndrome