Rare Gastroenterology News

Disease Profile

Fibro-adipose vascular anomaly

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.


US Estimated

Europe Estimated

Age of onset





Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)

FAVA; Fibro adipose vascular anomaly


Congenital and Genetic Diseases


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. Diagnosis is often delayed till late childhood, adolescence, or adulthood. In some cases, the anomaly is due to changes in the PIK3CA gene. In other cases the cause is not known. FAVA is not inherited. 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.[1]


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      General Information

      • The Boston Children's Hospital has developed information on fibro-adipose vascular anomaly for parents of children with this rare condition.

        Selected Full-Text Journal Articles


          1. Alomari A. Fibro-Adipose Vascular Anomaly (FAVA) in Children. Boston Children's Hospital. 2015; https://www.childrenshospital.org/conditions-and-treatments/conditions/fibro-adipose-vascular-anomaly. Accessed 9/14/2016.