Fibro-adipose vascular anomaly

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Synonyms	N/A
Pronounce
Field	N/A
Symptoms	Pain, difficulty moving the affected limb, contracture, mild enlargement of the affected limb
Complications
Onset	Later childhood to young adulthood
Duration
Types
Causes	Unknown, potentially genetic
Risks
Diagnosis	Ultrasound, MRI
Differential diagnosis
Prevention
Treatment	Physical therapy, surgical resection, cryoablation
Medication	Sirolimus
Prognosis
Frequency	rare
Deaths

Fibro-adipose vascular anomaly, also known as FAVA, is a type of vascular anomaly that is both rare and painful. FAVA is characterized by tough fibrofatty tissue taking over portions of muscle, most often contained within a single limb. FAVA also causes venous and/or lymphatic abnormalities.<ref name=":1" />

Though FAVA has only been recognized as a distinct vascular anomaly, separate from common venous malformations, within the past ten years, FAVA a distinct congenital disorder.<ref>,

 Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity, 
 Journal of Pediatric Orthopedics, 
 
 Vol. 34(Issue: 1),
 pp. 109–17,
 DOI: 10.1097/BPO.0b013e3182a1f0b8,
 PMID: 24322574,</ref>

Signs and symptoms

Common symptoms of FAVA include severe pain and difficulty moving the affected limb, mild enlargement of the affected limb with visible veins, and contracture.<ref name=":1">

Fibro-Adipose Vascular Anomaly (FAVA) | Boston Children's Hospital(link). www.childrenshospital.org.

Accessed 2020-01-31.

</ref>

In the cohort described by Alomari, et al.<ref name=first>,

 Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity, 
 Journal of Pediatric Orthopedics, 
 
 Vol. 34(Issue: 1),
 pp. 109–17,
 DOI: 10.1097/BPO.0b013e3182a1f0b8,
 PMID: 24322574,</ref> from the Vascular Anomalies Center at Boston Children’s Hospital, FAVA was located, in descending order, in the calf, forearm/wrist and thigh. The most common presentation is severe pain. Calf lesions, particularly those located in the posterior compartment, are commonly associated with restricted ankle dorsiflexion (equinus contracture).

Genetics

No one knows what causes FAVA, though recent research revealed mutations in a gene called PIK3CA in some — but not all — cases.<ref>,

 Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA, 
 The Journal of Pediatrics, 
 
 Vol. 166(Issue: 4),
 pp. 1048–54.e1–5,
 DOI: 10.1016/j.jpeds.2014.12.069,
 PMID: 25681199,
 PMC: 4498659,</ref> PIK3CA is a gene in the receptor tyrosine kinase phosphatidylinositol 3-kinase (PI3)-AKT growth-signaling pathway. The PIK3CA gene is located on the long (q) arm of chromosome 3.<ref name=third>

PIK3CA(link). {{{website}}}.

</ref>

There has been no evidence to suggest that FAVA is inherited or passed along in families.<ref>,

 Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity, 
 Journal of Pediatric Orthopedics, 
 
 Vol. 34(Issue: 1),
 pp. 109–17,
 DOI: 10.1097/BPO.0b013e3182a1f0b8,
 PMID: 24322574,</ref><ref name=":1" />

Diagnosis

FAVA is most often diagnosed in older children, teens and young adults, though it has been diagnosed earlier and later in a patient's life.<ref name=":1" />

The constellation of clinical, radiologic, and histopathologic findings typically allow the diagnosis of FAVA.<ref name=":0">

Fibro-Adipose Vascular Anomaly (FAVA) | Diagnosis & Treatment | Boston Children's Hospital(link). www.childrenshospital.org.

Accessed 2020-01-18.

</ref> The most helpful imaging studies are ultrasonography (US) and magnetic resonance imaging (MRI). The major imaging features of FAVA include the presence of complex intramuscular solid lesion replacing normal muscle fibers with fibrofatty overgrowth and phlebectasia. The extrafascial part is composed of fatty overgrowth, phlebectasia, and occasional lymphatic malformation. The histopathologic findings in FAVA include dense fibrous tissue, fat, and lymphoplasmacytic aggregates within atrophied skeletal muscle. Adipose tissue within skeletal muscles are associated with large, irregular, and sometimes excessively muscularized venous channels and smaller, clustered channels.<ref name="first" /> Organizing thrombi, lymphatic foci and enlarged nerves encircled by dense fibrous tissue are also frequently noted in FAVA.

Management

Some FAVA patients develop limb contracture; in these cases early orthopedic consultation is necessary. Achilles tendon lengthening (heel-cord release) and physical therapy can be helpful for treating equinus contracture.<ref>Fernandez-Pineda, Israel,

 Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder, 
 Annals of Vascular Diseases, 
 
 Vol. 7(Issue: 3),
 pp. 317,
 
 
 
 
 Full text,</ref>

Unlike classical venous malformations, pain in FAVA is multifactorial and clinical response to sclerotherapy of the venous component can be less effective.<ref>Fernandez-Pineda, Israel,

 Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder, 
 Annals of Vascular Diseases, 
 
 Vol. 7(Issue: 3),
 pp. 319,
 
 
 
 
 Full text,</ref> While intralesional steroid injections and nerve block may offer temporary or partial pain relief, the source of pain is often the solid intramuscular lesion. Surgical resection and image-guided percutaneous cryoablation may offer an effective control of pain in FAVA lesions.<ref>, 
 Cryoablation in fibro-adipose vascular anomaly (FAVA): a minimally invasive treatment option, 
 Pediatric Radiology, 
 
 Vol. 46(Issue: 8),
 pp. 1179–86,
 DOI: 10.1007/s00247-016-3576-0,
 PMID: 26902298,
 
 
 Full text,</ref><ref name=":0" /> Sirolimus has been effective in improving the quality of life in some people with FAVA.<ref>, 
 Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients, 
 Pediatric Dermatology, 
 
 Vol. 34(Issue: 6),
 pp. e317-e320,
 DOI: 10.1111/pde.13260,
 PMID: 29144050,</ref>

Awareness

Project FAVA is an organization that supports those living with FAVA and aims to drive research around the condition.<ref>

Project FAVA | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program(link). rarediseases.info.nih.gov.

Accessed 2020-01-26.

</ref><ref>

Our Story/Our Mission(link). projectfava.

Accessed 2020-01-26.

</ref>

Further reading

• ,

 Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA, 
 The Journal of Pediatrics, 
 
 Vol. 166(Issue: 4),
 pp. 1048–54.e1–5,
 DOI: 10.1016/j.jpeds.2014.12.069,
 PMID: 25681199,
 PMC: 4498659,

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