What are the other Names for this Condition? (Also known as/Synonyms)

• FAVA (Fibro-Adipose Vascular Anomaly)
• Fibro Adipose Vascular Anomaly

What is Fibro-Adipose Vascular Anomaly? (Definition/Background Information)

• 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
• In some cases, the anomaly is due to changes in the PIK3CA gene. In other cases the cause is not known. Fibro-Adipose Vascular Anomaly is not inherited
• Diagnosis is often delayed till late childhood, adolescence, or adulthood. 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

(Source: Fibro-Adipose Vascular Anomaly; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Fibro-Adipose Vascular Anomaly? (Age and Sex Distribution)

• Fibro-Adipose Vascular Anomaly is a rare disorder and has been recognized as a distinct vascular abnormality recently
• The presentation of symptoms may occur at any age between infancy and adulthood. However, in most cases, symptom manifestation may begin in late childhood, teenage, or young adulthood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Fibro-Adipose Vascular Anomaly? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Fibro-Adipose Vascular Anomaly

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Fibro-Adipose Vascular Anomaly? (Etiology)

• The exact cause of Fibro-Adipose Vascular Anomaly is not known, although somatic mutations in PIK3CA gene is reported in some cases
• Fibro-Adipose Vascular Anomaly is not inherited and does not run in families

What are the Signs and Symptoms of Fibro-Adipose Vascular Anomaly?

The signs and symptoms of Fibro-Adipose Vascular Anomaly may include the following:

• Swelling of the affected limb, with prominent veins
• Pain in the affected limb, which may be severe
• Contracture in the affected limb, with a resultant fixed position of the same

How is Fibro-Adipose Vascular Anomaly Diagnosed?

Fibro-Adipose Vascular Anomaly is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Fibro-Adipose Vascular Anomaly?

The complications of Fibro-Adipose Vascular Anomaly may include:

• Severe pain
• Difficulty moving the affected arm or leg

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Fibro-Adipose Vascular Anomaly Treated?

The treatment methods for Fibro-Adipose Vascular Anomaly may include one or more of the following:

• Physical therapy
• Surgery
• Cryoablation (using cold temperatures to destroy affected tissue)
• Use of medications such as sirolimus (an immune-suppressing drug)

How can Fibro-Adipose Vascular Anomaly be Prevented?

• Presently, there are no methods or guidelines available for the prevention of Fibro-Adipose Vascular Anomaly, since the cause is not known in most cases
• Active research is currently being performed to explore the possibilities for treatment and prevention of disorders such as Fibro-Adipose Vascular Anomaly
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Fibro-Adipose Vascular Anomaly? (Outcomes/Resolutions)

• The prognosis of Fibro-Adipose Vascular Anomaly is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Fibro-Adipose Vascular Anomaly:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/