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| {{orphan|date=May 2015}} | | {{Short description|A rare vascular anomaly}} |
| {{Medref|date=July 2019}}
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| {{Infobox medical condition (new)
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| | name = <!--{{PAGENAME}} by default-->
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| | synonym = FAVA
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| | pronounce =
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| | specialty = [[Pediatrics]], [[interventional radiology]],
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| | symptoms = Pain, difficulty moving the affected limb, [[contracture]], mild enlargement of the affected limb
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| | complications =
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| | onset = Later childhood to young adulthood
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| | duration =
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| | types =
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| | causes = Unknown, potentially genetic
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| | risks =
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| | diagnosis = [[Ultrasound]], [[MRI]]
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| | prevention =
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| | treatment = Physical therapy, surgical resection, [[cryoablation]]
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| | medication = [[Sirolimus]]
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| | prognosis =
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| | frequency = [[Rare disease|rare]]
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| | deaths =
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| 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 [[Adipose tissue|fibrofatty]] tissue taking over portions of muscle, most often contained within a single limb. FAVA also causes [[Vein|venous]] and/or [[Lymph|lymphatic]] abnormalities.<ref name=":1" /> | | '''Fibro-adipose vascular anomaly''' (FAVA) is a rare and complex [[vascular anomaly]] characterized by the presence of fibrous and adipose (fatty) tissue within the [[muscle]]s, often accompanied by [[pain]] and [[swelling]]. This condition primarily affects the [[extremities]], such as the arms and legs, and is most commonly diagnosed in [[children]] and [[young adults]]. |
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| Though FAVA has only been recognized as a distinct vascular anomaly, separate from common [[Vascular malformation|venous malformations]], within the past ten years, FAVA a distinct [[congenital disorder]].<ref>{{cite journal | vauthors = Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP | display-authors = 6 | title = Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity | journal = Journal of Pediatric Orthopedics | volume = 34 | issue = 1 | pages = 109–17 | date = January 2014 | pmid = 24322574 | doi = 10.1097/BPO.0b013e3182a1f0b8 }}</ref>
| | ==Clinical Presentation== |
| | Patients with fibro-adipose vascular anomaly typically present with a combination of symptoms, including: |
| | * Persistent [[pain]] in the affected limb |
| | * [[Swelling]] and [[tenderness]] |
| | * Limited [[range of motion]] |
| | * [[Muscle weakness]] |
| | * [[Skin]] changes over the affected area |
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| ==Signs and symptoms==
| | The pain associated with FAVA is often severe and can significantly impact the patient's quality of life. The condition may be mistaken for other [[musculoskeletal disorders]] due to its overlapping symptoms. |
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| 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">{{Cite web|url=http://www.childrenshospital.org/conditions-and-treatments/conditions/f/fibro-adipose-vascular-anomaly|title=Fibro-Adipose Vascular Anomaly (FAVA) {{!}} Boston Children's Hospital|website=www.childrenshospital.org|access-date=2020-01-31}}</ref>
| | ==Pathophysiology== |
| | | Fibro-adipose vascular anomaly is characterized by the abnormal proliferation of [[fibrous tissue]], [[adipose tissue]], and [[vascular malformations]] within the [[muscle]]. The exact cause of FAVA is not well understood, but it is believed to involve a combination of genetic and environmental factors. The [[vascular malformations]] in FAVA are typically composed of [[dysplastic veins]] and [[lymphatic vessels]]. |
| In the cohort described by Alomari, et al.<ref name=first>{{cite journal | vauthors = Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP | display-authors = 6 | title = Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity | journal = Journal of Pediatric Orthopedics | volume = 34 | issue = 1 | pages = 109–17 | date = January 2014 | pmid = 24322574 | doi = 10.1097/BPO.0b013e3182a1f0b8 }}</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).
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| ==Genetics==
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| No one knows what causes FAVA, though recent research revealed mutations in a gene called PIK3CA in some — but not all — cases.<ref>{{cite journal | vauthors = Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R | display-authors = 6 | title = Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA | journal = The Journal of Pediatrics | volume = 166 | issue = 4 | pages = 1048–54.e1–5 | date = April 2015 | pmid = 25681199 | pmc = 4498659 | doi = 10.1016/j.jpeds.2014.12.069 }}</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>{{cite web | work = Genetics Home Reference | url = http://ghr.nlm.nih.gov/gene/PIK3CA | title = PIK3CA }}</ref>
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| There has been no evidence to suggest that FAVA is inherited or passed along in families.<ref>{{cite journal | vauthors = Alomari AI, Spencer SA, Arnold RW, Chaudry G, Kasser JR, Burrows PE, Govender P, Padua HM, Dillon B, Upton J, Taghinia AH, Fishman SJ, Mulliken JB, Fevurly RD, Greene AK, Landrigan-Ossar M, Paltiel HJ, Trenor CC, Kozakewich HP | display-authors = 6 | title = Fibro-adipose vascular anomaly: clinical-radiologic-pathologic features of a newly delineated disorder of the extremity | journal = Journal of Pediatric Orthopedics | volume = 34 | issue = 1 | pages = 109–17 | date = January 2014 | pmid = 24322574 | doi = 10.1097/BPO.0b013e3182a1f0b8 }}</ref><ref name=":1" />
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| ==Diagnosis== | | ==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 diagnosis of FAVA is primarily based on clinical evaluation and imaging studies. [[Magnetic resonance imaging]] (MRI) is the preferred imaging modality, as it can clearly delineate the extent of the fibrous and adipose tissue infiltration and identify associated vascular anomalies. [[Ultrasound]] and [[computed tomography]] (CT) scans may also be used to assess the condition. |
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| The constellation of clinical, radiologic, and [[Histopathology|histopathologic]] findings typically allow the diagnosis of FAVA.<ref name=":0">{{Cite web|url=http://www.childrenshospital.org/conditions-and-treatments/conditions/f/fibro-adipose-vascular-anomaly/diagnosis-and-treatment|title=Fibro-Adipose Vascular Anomaly (FAVA) {{!}} Diagnosis & Treatment {{!}} Boston Children's Hospital|website=www.childrenshospital.org|access-date=2020-01-18}}</ref> The most helpful imaging studies are [[Medical ultrasonography|ultrasonography]] (US) and [[MRI|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 [[Atrophy|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.
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| ==Management==
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| 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>{{Cite journal|last=Fernandez-Pineda|first=Israel|last2=Marcilla|first2=David|last3=Downey-Carmona|first3=Francisco Javier|last4=Roldan|first4=Sebastian|last5=Ortega-Laureano|first5=Lucia|last6=Bernabeu-Wittel|first6=Jose|date=2014|title=Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder|url=https://www.jstage.jst.go.jp/article/avd/7/3/7_cr.14-00049/_pdf/-char/en|journal=Annals of Vascular Diseases|volume=7|issue=3|pages=317|via=}}</ref>
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| Unlike classical venous malformations, pain in FAVA is multifactorial and clinical response to [[sclerotherapy]] of the venous component can be less effective.<ref>{{Cite journal|last=Fernandez-Pineda|first=Israel|last2=Marcilla|first2=David|last3=Downey-Carmona|first3=Francisco Javier|last4=Roldan|first4=Sebastian|last5=Ortega-Laureano|first5=Lucia|last6=Bernabeu-Wittel|first6=Jose|date=2014|title=Lower Extremity Fibro-Adipose Vascular Anomaly (FAVA): A New Case of a Newly Delineated Disorder|url=https://www.jstage.jst.go.jp/article/avd/7/3/7_cr.14-00049/_pdf/-char/en|journal=Annals of Vascular Diseases|volume=7|issue=3|pages=319|via=}}</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>{{cite journal | vauthors = Shaikh R, Alomari AI, Kerr CL, Miller P, Spencer SA | title = Cryoablation in fibro-adipose vascular anomaly (FAVA): a minimally invasive treatment option | journal = Pediatric Radiology | volume = 46 | issue = 8 | pages = 1179–86 | date = July 2016 | pmid = 26902298 | doi = 10.1007/s00247-016-3576-0 | url = https://www.semanticscholar.org/paper/0c055694779ba4c023478e97517854885d005b81 }}</ref><ref name=":0" /> [[Sirolimus]] has been effective in improving the quality of life in some people with FAVA.<ref>{{cite journal | vauthors = Erickson J, McAuliffe W, Blennerhassett L, Halbert A | title = Fibroadipose vascular anomaly treated with sirolimus: Successful outcome in two patients | journal = Pediatric Dermatology | volume = 34 | issue = 6 | pages = e317-e320 | date = November 2017 | pmid = 29144050 | doi = 10.1111/pde.13260 }}</ref>
| | ==Treatment== |
| | Management of fibro-adipose vascular anomaly is challenging and often requires a multidisciplinary approach. Treatment options include: |
| | * [[Pain management]] with [[analgesics]] and [[anti-inflammatory drugs]] |
| | * [[Physical therapy]] to maintain [[mobility]] and [[muscle strength]] |
| | * [[Surgical intervention]] to remove fibrous and adipose tissue, if feasible |
| | * [[Sclerotherapy]] or [[embolization]] to address vascular malformations |
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| == Awareness ==
| | The choice of treatment depends on the severity of symptoms, the extent of the anomaly, and the patient's overall health. |
| [https://www.projectfava.org Project FAVA] is an organization that supports those living with FAVA and aims to drive research around the condition.<ref>{{Cite web|url=https://rarediseases.info.nih.gov/organizations/4217|title=Project FAVA {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|access-date=2020-01-26}}</ref><ref>{{Cite web|url=https://www.projectfava.org/copy-of-about-us|title=Our Story/Our Mission|last=|first=|date=|website=projectfava|language=en|url-status=live|archive-url=|archive-date=|access-date=2020-01-26}}</ref>
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| == References == | | ==Prognosis== |
| {{Reflist}}
| | The prognosis for individuals with fibro-adipose vascular anomaly varies. While some patients may experience significant relief from symptoms following treatment, others may continue to have chronic pain and functional limitations. Early diagnosis and intervention are crucial for improving outcomes. |
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| == Further reading == | | ==Related Pages== |
| {{refbegin}}
| | * [[Vascular anomaly]] |
| * {{cite journal | vauthors = Luks VL, Kamitaki N, Vivero MP, Uller W, Rab R, Bovée JV, Rialon KL, Guevara CJ, Alomari AI, Greene AK, Fishman SJ, Kozakewich HP, Maclellan RA, Mulliken JB, Rahbar R, Spencer SA, Trenor CC, Upton J, Zurakowski D, Perkins JA, Kirsh A, Bennett JT, Dobyns WB, Kurek KC, Warman ML, McCarroll SA, Murillo R | display-authors = 6 | title = Lymphatic and other vascular malformative/overgrowth disorders are caused by somatic mutations in PIK3CA | journal = The Journal of Pediatrics | volume = 166 | issue = 4 | pages = 1048–54.e1–5 | date = April 2015 | pmid = 25681199 | pmc = 4498659 | doi = 10.1016/j.jpeds.2014.12.069 }} | | * [[Lymphatic malformation]] |
| {{refend}}
| | * [[Venous malformation]] |
| | * [[Pain management]] |
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| [[Category:Congenital disorders]]
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| [[Category:Vascular diseases]] | | [[Category:Vascular diseases]] |
| {{dictionary-stub1}}
| | [[Category:Rare diseases]] |
| {{No image}}
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A rare vascular anomaly
Fibro-adipose vascular anomaly (FAVA) is a rare and complex vascular anomaly characterized by the presence of fibrous and adipose (fatty) tissue within the muscles, often accompanied by pain and swelling. This condition primarily affects the extremities, such as the arms and legs, and is most commonly diagnosed in children and young adults.
Clinical Presentation
Patients with fibro-adipose vascular anomaly typically present with a combination of symptoms, including:
The pain associated with FAVA is often severe and can significantly impact the patient's quality of life. The condition may be mistaken for other musculoskeletal disorders due to its overlapping symptoms.
Pathophysiology
Fibro-adipose vascular anomaly is characterized by the abnormal proliferation of fibrous tissue, adipose tissue, and vascular malformations within the muscle. The exact cause of FAVA is not well understood, but it is believed to involve a combination of genetic and environmental factors. The vascular malformations in FAVA are typically composed of dysplastic veins and lymphatic vessels.
Diagnosis
The diagnosis of FAVA is primarily based on clinical evaluation and imaging studies. Magnetic resonance imaging (MRI) is the preferred imaging modality, as it can clearly delineate the extent of the fibrous and adipose tissue infiltration and identify associated vascular anomalies. Ultrasound and computed tomography (CT) scans may also be used to assess the condition.
Treatment
Management of fibro-adipose vascular anomaly is challenging and often requires a multidisciplinary approach. Treatment options include:
The choice of treatment depends on the severity of symptoms, the extent of the anomaly, and the patient's overall health.
Prognosis
The prognosis for individuals with fibro-adipose vascular anomaly varies. While some patients may experience significant relief from symptoms following treatment, others may continue to have chronic pain and functional limitations. Early diagnosis and intervention are crucial for improving outcomes.
Related Pages
