Fibro-Adipose Vascular Anomaly

Alomari, Ahmad I.; Spencer, Samantha A.; Arnold, Ryan W.; Chaudry, Gulraiz; Kasser, James R.; Burrows, Patricia E.; Govender, Pradeep; Padua, Horacio; Dillon, Brian; Upton, Joseph; Taghinia, Amir H.; Fishman, Steven J.; Mulliken, John B.; Fevurly, R. Dawn; Greene, Arin K.; Landrigan‐Ossar, Mary; Paltiel, Harriet J.; Trenor, Cameron C.; Kozakewich, Harry P.

doi:10.1097/bpo.0b013e3182a1f0b8

Cited by 111 publications

(46 citation statements)

References 10 publications

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“…KTS was diagnosed based upon the presence of cutaneous capillary-lymphatic malformation, enlarged veins, and overgrowth of the affected extremity 12 . Fibro-adipose vascular anomaly was diagnosed based upon a localized intramuscular fibrous and fatty infiltration with adjacent venous and lymphatic malformation 13 .…”

Section: Methodsmentioning

confidence: 99%

“…Lymphatic malformations (LM), which arise most frequently as an isolated vascular anomaly, are a major component feature in patients that have CLOVES syndrome 11 and Klippel-Trenaunay syndrome (KTS) 12 . Fatty-fibrous infiltration with adjacent venous-lymphatic malformation occurs in CLOVES syndrome and within skeletal muscles of patients with fibro-adipose vascular anomaly (FAVA) 13 . Therefore, we hypothesized that patients with isolated LM and FAVA, in addition to patients with CLOVES and KTS, are somatic mosaic for PIK3CA mutations.…”

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confidence: 99%

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Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Luks

Kamitaki

Vivero

et al. 2015

The Journal of Pediatrics

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Objectives To test the hypothesis that somatic PIK3CA mutations would be found in patients with more common disorders including isolated lymphatic malformation (LM) and Klippel-Trenaunay syndrome (KTS). Study design We used next generation sequencing, droplet digital PCR (ddPCR), and single molecule molecular inversion probes (smMIPs) to search for somatic PIK3CA mutations in affected tissue from patients seen at Boston Children’s Hospital who had an isolated LM (n=17), KTS (n=21), fibro-adipose vascular anomaly (FAVA; n=8), or congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies syndrome (CLOVES; n = 33), the disorder for which we first identified somatic PIK3CA mutations. We also screened 5 of the more common PIK3CA mutations in a second cohort of patients with LM (n=31) from Seattle Children’s Hospital. Results Most individuals from Boston Children’s Hospital who had isolated LM (16/17) or LM as part of a syndrome, such as KTS (19/21), FAVA (4/8), and CLOVES (30/32) were somatic mosaic for PIK3CA mutations, with 5 specific PIK3CA mutations accounting for ~ 80% of cases. Seventy-four percent of patients with LM from Seattle Children’s Hospital also were somatic mosaic for 1 of 5 specific PIK3CA mutations. Many affected tissue specimens from both cohorts contained fewer than 10% mutant cells. Conclusions Somatic PIK3CA mutations are the most common cause of isolated lymphatic malformations and disorders in which lymphatic malformation is a component feature. Five PIK3CA mutations account for most cases. The search for causal mutations requires sampling of affected tissues and techniques that are capable of detecting low-level somatic mosaicism, because the abundance of mutant cells in a malformed tissue can be low.

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Section: Methodsmentioning

confidence: 99%

mentioning

confidence: 99%

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Luks

Kamitaki

Vivero

et al. 2015

The Journal of Pediatrics

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464

454

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“…Extratruncular defects are more or less extended masses of dysplastic vessels, which may be also formed by a combi-nation of two types of defects, like venous and lymphatic dysplasias. Moreover, these masses may be formed also by extensive fat or fibrous tissue which may even be 90 % of the whole malformation (4,5).…”

Section: Classificationmentioning

confidence: 99%

Role of sclerotherapy in vascular malformations

Mattassi¹

2017

Phlebologie

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SummaryCongenital vascular malformations (CVM) are a heterogeneous group of vessels defects that include venous, lymphatic, arteriovenous and combined anomalies. CVM may be located in every part of the body with great variability. A precise diagnostic process is required to get complete information about the anomaly prior to decide treatment between different options: surgery, sclerotherapy, embolization and laser. Sclerotherapy has a role in each type of CVM. However, correct indication, selection of the best sclerosing agent, and knowledge of technical skills in CVM are required for a good result. In venous malformations, ethanol is the most effective sclerosing agent but experience in management is required. Lymphatic malformations, mainly in the macrocystic form, can be treated easily with different substances. The nidus of arteriovenous malformations can be occluded by alcohol sclerosis. However, because of the high hemodynamic of AVM, treatment may be difficult; a good sclerosing technique is necessary to avoid complications and to get good results, which are always possible.

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“…New vascular anomalies are continuously identified, considering not only clinical aspects but also radiological and histopathological elements [1,2]. Fibroadipose vascular anomaly (FAVA) was described for the first time in 2014, through a retrospective analysis of 18 patients conducted by Alomari et al [3]. Nowadays, considering the last published International Society for the Study of Vascular Malformations (known as ISSVA) 2018 classification, this disease is included in the "provisionally unclassified vascular anomalies" [4].…”

Section: Introductionmentioning

confidence: 99%

Hybrid treatment of fibroadipose vascular anomaly: A case report

Stillo¹,

Ruggiero

Fiores³

et al. 2020

Open Medicine

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BackgroundFirst identified in 2014, fibroadipose vascular anomaly (FAVA) is a very rare type of venous and lymphatic malformation. Marked by tough fibrofatty tissue in the extremities overtaking portions of the muscles, it is associated with constant pain and contracture of the affected extremity. There is a paucity of literature, and no guidelines on treatment procedure are available. This case highlights the role of hybrid treatment with primary ethanol percutaneous ethanol embolization and additional surgery for radicality in excision of FAVA lesions.Case summaryA 9-year-old girl with FAVA underwent the hybrid treatment. The achievements of complete excision, clinical response, and patient satisfaction in long-term follow-up were assessed. Following the hybrid treatment, the patient experienced significant improvement in pain. Concurrent symptoms of physical limitation, leg swelling, and skin hyperesthesia also improved. The clinical benefit, supported by postoperative physiotherapy, was well stabilized at 6-month follow-up, resulting in complete patient satisfaction at 12- and 36-month follow-ups. No major complications were encountered.ConclusionEthanol embolization plus surgery is a safe, effective, and long-term hybrid treatment of symptomatic FAVA lesions.

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Fibro-Adipose Vascular Anomaly

Abstract: Level III.

Cited by 111 publications

References 10 publications

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Lymphatic and Other Vascular Malformative/Overgrowth Disorders Are Caused by Somatic Mutations in PIK3CA

Role of sclerotherapy in vascular malformations

Hybrid treatment of fibroadipose vascular anomaly: A case report

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