Venous malformation
VM · cavernous haemangioma (obsolete) · venous angioma
Venous malformations (VMs) are congenital slow-flow vascular anomalies composed of dysplastic veins with deficient smooth-muscle. They are the commonest vascular malformation and grow proportionately with the patient. Most are sporadic, due to somatic mosaic TIE2/TEK or PIK3CA mutations; familial forms exist (VMCM, glomuvenous malformation). Localised intravascular coagulopathy (D-dimer raised, fibrinogen normal-to-low) is a clinical hallmark. ISSVA 2018 classification underpins UK practice; sclerotherapy and sirolimus are mainstay management.
Classification (ISSVA 2018)
- Common (sporadic) VM: most common; soft compressible bluish lesion.
- Familial cutaneomucosal VM (VMCM): autosomal dominant TIE2/TEK; multifocal small lesions; cutaneous and mucosal.
- Blue rubber bleb naevus syndrome (BRBNS): multifocal skin + GI VMs; chronic bleeding / anaemia.
- Glomuvenous malformation (GVM): autosomal dominant glomulin mutation; blue-purple nodular cobblestone lesions on extremities; tender to compression.
- Verrucous venous malformation: localised hyperkeratotic component.
- Syndromic: KTS, CLOVES, Maffucci (with enchondromas), Bockenheimer syndrome.
Clinical features
- Soft, compressible, bluish-purple lesion; may have phlebolith (calcified thrombus) palpable.
- Enlarges with dependency, Valsalva, exercise.
- Present at birth or appears in childhood; grows proportionately.
- Can affect any tissue: skin, muscle, joint, viscera.
- Symptoms: pain (chronic intravascular coagulation, thrombosis), functional limitation, deformity, bleeding.
- Localised intravascular coagulopathy (LIC): D-dimer often elevated, fibrinogen normal-to-low; risk of DIC during surgery.
- Risk of phleboliths, recurrent thrombophlebitis.
Workup
- MRI: T2-hyperintense, septated, slow contrast filling; gold standard.
- USS Doppler: low-flow / no-flow lesion.
- Plain radiographs / CT: phleboliths.
- Coagulation panel: D-dimer, fibrinogen, FBC, PT / APTT — assess LIC.
- Lesional biopsy with somatic mutation sequencing (TIE2/TEK, PIK3CA).
- Genetic testing for familial VMCM, BRBNS, GVM.
Management
- Conservative: compression garments, analgesia, low-molecular-weight heparin for LIC and pain.
- Sclerotherapy: ethanol (most effective; risk of skin necrosis / nerve injury), STS, bleomycin, polidocanol — interventional radiology.
- Surgical excision: localised, small, accessible lesions; high recurrence in deep / multifocal.
- Laser: Nd:YAG for superficial cutaneous component; KTP, PDL for adjunct.
- Sirolimus (mTOR inhibitor): symptom improvement and lesion reduction in complex VMs.
- Alpelisib: PI3K inhibitor — PIK3CA-mutant VMs.
- Anticoagulation peri-procedure for LIC management; LMWH 1-2 weeks pre/post sclerotherapy.
- Multidisciplinary vascular-anomaly team.
References
- Mulliken JB, Glowacki J. Hemangiomas and vascular malformations in infants and children: a classification based on endothelial characteristics. Plast Reconstr Surg. 1982;69:412-422.
- Limaye N et al. Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet. 2009;41:118-124.
- Boon LM et al. Glomuvenous malformation (glomangioma) and venous malformation. Arch Dermatol. 2004;140:971-976.
- Adams DM et al. Efficacy and safety of sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016;137:e20153257.
- ISSVA classification of vascular anomalies. Boston: ISSVA; 2018.
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