It is often challenging to properly diagnose a fibro-adipose vascular anomaly, and many FAVA patients are misdiagnosed or undiagnosed.  Physicians may use one or more of these diagnostic techniques to help with diagnosis.  You can speak with your medical provider to determine whether any of these techniques are right for you.  As FAVA is a complicated diagnosis, it is often best to explore these options with an interdisciplinary team consisting of, at a minimum, an interventional radiologist, orthopedic or other surgeon, and hematologist/oncologist or other medical provider. 

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• Health Assessment and Physical Examination

 

During this process, a doctor will evaluate a patient’s body for signs of disease, as well as collect information about the patient’s medical history.

 

• MRI

 

Magnetic resonance imagining (MRI) is a non-invasive medical test that uses a strong magnetic field and radio waves to produce detailed images of all the structures in the area of concern.  Patients lie down on the scanner and must remain still for the duration of the scan.  Younger children who cannot remain still and anyone who experiences claustrophobia may need medication to help them relax or sedation during the procedure.  Sometimes, patients are injected with an intravenous contrast liquid to improve the quality of the pictures. 

 

• Ultrasound

 

An ultrasound, also called ultrasound scanning or sonography, is a non-invasive procedure that uses high-frequency sound waves to create images of the body.  Gel is placed directly on the skin at the site of the FAVA, and a hand-held device called a transducer is rubbed across the gel to capture the sound waves and create images.  Similar to an MRI, younger children that cannot remain still may need medication to help them relax during the procedure.

 

• Biopsy

 

A biopsy is a procedure in which tissue is removed from the site of the FAVA for examination by a pathologist.  Biopsies can be open - a surgical procedure - or can be performed through interventional radiology with a much less invasive technique.  More and more, doctors are ordering biopsies to confirm a FAVA diagnosis, as well as to detect the PIK3CA or other genetic mutation.  

 

  

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