Fibro-adipose vascular anomaly: Difference between revisions
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{{Infobox medical condition | |||
| name = Fibro-adipose vascular anomaly | |||
| synonyms = FAVA | |||
| field = [[Vascular medicine]], [[Pediatric surgery]] | |||
| symptoms = [[Pain]], [[swelling]], [[muscle contracture]] | |||
| complications = [[Chronic pain]], [[limb dysfunction]] | |||
| onset = [[Childhood]] | |||
| duration = [[Chronic]] | |||
| causes = Unknown | |||
| risks = Unknown | |||
| diagnosis = [[Magnetic resonance imaging|MRI]], [[Ultrasound]] | |||
| differential = [[Venous malformation]], [[Lymphatic malformation]], [[Arteriovenous malformation]] | |||
| treatment = [[Sclerotherapy]], [[Surgical resection]], [[Pain management]] | |||
| prognosis = Variable | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare vascular anomaly}} | {{Short description|A rare vascular anomaly}} | ||
{{Infobox medical condition | {{Infobox medical condition | ||
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| risks = Possibly sporadic mutations; no clear inheritance pattern | | risks = Possibly sporadic mutations; no clear inheritance pattern | ||
| diagnosis = [[Ultrasound]], [[MRI]], [[biopsy]], clinical examination | | diagnosis = [[Ultrasound]], [[MRI]], [[biopsy]], clinical examination | ||
| differential = [[Venous malformation]], [[ | | differential = [[Venous malformation]], [[Klippel–Trénaunay syndrome]], [[lipofibromatosis]], [[intramuscular hemangioma]] | ||
| prevention = None known | | prevention = None known | ||
| treatment = [[Physical therapy]], [[surgical resection]], [[cryoablation]], [[sclerotherapy]] | | treatment = [[Physical therapy]], [[surgical resection]], [[cryoablation]], [[sclerotherapy]] | ||
| Line 26: | Line 43: | ||
}} | }} | ||
'''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]]. | '''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]]. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Patients with fibro-adipose vascular anomaly typically present with a combination of symptoms, including: | Patients with fibro-adipose vascular anomaly typically present with a combination of symptoms, including: | ||
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* [[Muscle weakness]] | * [[Muscle weakness]] | ||
* [[Skin]] changes over the affected area | * [[Skin]] changes over the affected area | ||
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. | 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== | ==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]]. | 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== | ==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. | 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== | ==Treatment== | ||
Management of fibro-adipose vascular anomaly is challenging and often requires a multidisciplinary approach. Treatment options include: | Management of fibro-adipose vascular anomaly is challenging and often requires a multidisciplinary approach. Treatment options include: | ||
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* [[Surgical intervention]] to remove fibrous and adipose tissue, if feasible | * [[Surgical intervention]] to remove fibrous and adipose tissue, if feasible | ||
* [[Sclerotherapy]] or [[embolization]] to address vascular malformations | * [[Sclerotherapy]] or [[embolization]] to address vascular malformations | ||
The choice of treatment depends on the severity of symptoms, the extent of the anomaly, and the patient's overall health. | The choice of treatment depends on the severity of symptoms, the extent of the anomaly, and the patient's overall health. | ||
==Prognosis== | ==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. | 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== | ==Related Pages== | ||
* [[Vascular anomaly]] | * [[Vascular anomaly]] | ||
Latest revision as of 01:13, 4 April 2025
| Fibro-adipose vascular anomaly | |
|---|---|
| Synonyms | FAVA |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Pain, swelling, muscle contracture |
| Complications | Chronic pain, limb dysfunction |
| Onset | Childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Unknown |
| Risks | Unknown |
| Diagnosis | MRI, Ultrasound |
| Differential diagnosis | Venous malformation, Lymphatic malformation, Arteriovenous malformation |
| Prevention | N/A |
| Treatment | Sclerotherapy, Surgical resection, Pain management |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
A rare vascular anomaly
| Fibro-adipose vascular anomaly | |
|---|---|
| Synonyms | N/A |
| Pronounce | |
| Specialty | Pediatrics, Interventional radiology, Vascular surgery, Orthopedics |
| Symptoms | Chronic pain, swelling, difficulty moving the affected limb, contracture, mild enlargement of the affected limb |
| Complications | Mobility impairment, muscle atrophy, reduced quality of life |
| Onset | Later childhood to young adulthood |
| Duration | Chronic |
| Types | |
| Causes | Unknown; may involve somatic mutations, including PIK3CA gene variants |
| Risks | Possibly sporadic mutations; no clear inheritance pattern |
| Diagnosis | Ultrasound, MRI, biopsy, clinical examination |
| Differential diagnosis | Venous malformation, Klippel–Trénaunay syndrome, lipofibromatosis, intramuscular hemangioma |
| Prevention | None known |
| Treatment | Physical therapy, surgical resection, cryoablation, sclerotherapy |
| Medication | Sirolimus (off-label), NSAIDs for pain |
| Prognosis | Variable; symptoms often manageable but may be progressive |
| Frequency | Rare |
| Deaths | Extremely rare; not typically fatal |
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[edit]
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
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[edit]
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[edit]
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[edit]
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
The choice of treatment depends on the severity of symptoms, the extent of the anomaly, and the patient's overall health.
Prognosis[edit]
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.
