Fibro-adipose vascular anomaly
A rare, painful vascular anomaly with fibrofatty muscle replacement.
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Fibro-adipose vascular anomaly (FAVA) is a rare and painful type of vascular anomaly. It is characterized by tough fibrofatty tissue replacing portions of muscle, most often within a single limb, and also involves venous or lymphatic abnormalities. FAVA has been recognized as a distinct congenital disorder and was formally classified by the International Society for the Study of Vascular Anomalies as an isolated, venous, slow-flow vascular malformation.
Signs and symptoms
Common symptoms include severe pain, difficulty moving the affected limb, mild enlargement with visible veins, and contracture. In one cohort, FAVA most often occurred in the calf, followed by the forearm/wrist and thigh. Calf lesions in the posterior compartment frequently cause restricted ankle dorsiflexion, known as equinus contracture.
Diagnosis
Diagnosis relies on clinical, radiologic, and histopathologic findings. Ultrasonography and magnetic resonance imaging are the most helpful imaging studies, showing complex intramuscular solid lesions with fibrofatty overgrowth and phlebectasia. Histopathology reveals dense fibrous tissue, fat, lymphoplasmacytic aggregates within atrophied skeletal muscle, and irregular venous channels; organizing thrombi, lymphatic foci, and enlarged nerves encircled by fibrous tissue are also common.
Management
For limb contracture, early orthopedic consultation is needed; Achilles tendon lengthening and physical therapy can help equinus contracture. Pain in FAVA is multifactorial, and sclerotherapy of the venous component may be less effective than in classical venous malformations. Surgical resection or image-guided percutaneous cryoablation may provide effective pain control, and sirolimus has improved quality of life in some patients.
Did You Know?
- Mutations in the PIK3CA gene have been found in some, but not all, cases of FAVA.
- There is no evidence that FAVA is inherited or passed along in families.
- The PIK3CA gene is part of the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway.
Frequently Asked Questions
What causes Fibro-adipose vascular anomaly?
Listed causes of Fibro-adipose vascular anomaly include Unknown and potentially genetic.
How is Fibro-adipose vascular anomaly diagnosed?
Diagnosis of Fibro-adipose vascular anomaly is based on Ultrasound and MRI.
More in Vascular Diseases
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Fibro-adipose vascular anomaly (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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