Fibro-adipose vascular anomaly

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

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

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:

• 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

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

• Vascular anomaly
• Lymphatic malformation
• Venous malformation
• Pain management

This article is a medical stub. You can help WikiMD by expanding it!
Most recent articles Ongoing trials	Wikipedia