Vascular and lymphatic malformations
Key points
International society of vascular anomalies 2018 classification
Two categories:
Vascular tumours (endothelial hyperplasia)
Vascular anomalies (normal endothelium)
Can also classify as high or low flow
High flow are both pure and combined arterial malformations and all tumours
Vascular anomalies
Capillary malformation examples
Salmon patch
Port wine stain - Sturge Weber, Can have bone, soft tissue overgrowth
Hereditary haemorrhagic telangiectasia (HHT)
Also known as Olser-Weber-Rendu syndrome
Pathophysiology
Curacao criteria 3 of:
1) Recurrent/spontaneous epistaxis
2) Mucocutaneous telangiectasia
3) Visceral arteriovenous malformations
4) A first-degree relative with the syndrome
Epistaxis, gums bleeding
Portal hypertension
Heart failure
Venous malformation examples
Common VM
Familial VM
Blue rubber bleb naevus syndrome Aka Bean syndrome
Multiple venous malformations
Mainly skin and GI tract
Sporadic but sometimes autosomal dominant
Clinical and USS diagnosis
GI complications:
Volvulus, intussusception, infarction
Management
Symptomatic - octreotide if GI bleed etc
Mixed lesion examples
Capillary-Venous Malformation (CVM), Capillary-lymphatic malformation, Capillary-arterio-venous
CM+ AV fistula = Parkes Weber
Klippel Trenaunay syndrome
Also called Klippel-Trenaunay-Weber
PIK3CA mutation
Clinical diagnosis based on 2 out of 3 of:
Limb hypertrophy
Capillary malformations
Venous abnormalities
Characterised by:
Port wine stains
Varicose veins
Capillary–lymphatic–venous malformation
Treatment:
Compression
If not successful - coil abnormal connections between superficial and deep veins. Then varicose vein ablation - care if deep system not intact
Management of symptomatic vascular malformations
Embolisation for high flow AVM
IR sclerotherapy for rest - should be to distal vessels, leaving main feeding vessels intact
Cervical lymphatic malformation
(Cystic Hygroma and Lymphangioma are historic terms)
Differential: Cervical germ cell tumour
Classification:
Cystic
Macro, Micro, Mixed
Occur most commonly on left - related to thoracic duct
Associations:
Chromosomal abnormalities are found in 25% to 75% of infants with cervical lymphatic malformations
Common in Turners, Trisomy 21, 18, 13, Klinefelter's
Also associated with Noonan syndrome, Fryns syndrome, multiple pterygium syndrome, achondroplasia, maternal alcohol use
Antenatal management:
Look for polyhydramnios - oesophageal compression can herald airway compromise at birth - consider EXIT procedure + intubation
Look for solid components suggesting tumour - get MRI if in doubt
CVS/Amniocentesis if chromosomal abnormality suspected
Postnatal management:
Protect airway
NG feeds may be necessary
Examine for other abnormalities
Investigations:
USS, MRI - T2 enhancing
Treatment:
Sclerotherapy is 1st line if macrocystic - complication is skin breakdown
Possible agents: Doxycycline, Bleomycin (complication is lung fibrosis)
OK-432 (lyophilised Strep pyogenes) no longer available
If multicystic - multiple partial resections joint with ENT - do not do radical resection
If recurrent in thorax - best to resect as can swell after sclerotherapy
May need to have multiple injections/resections and prolonged hospital stay to monitor airway and feeding
Global Lymphatic Anomaly
Primary lymphoedema - liposuction first line, excision and skin grafting last resort
Lymphaticovenous anastomosis for secondary lymphoedema
Vascular tumours
Benign
Infantile haemangioma (Pattern and Subtypes)
Presents 2 weeks after birth proliferation up to 1 year, then slow involution to 5-7 years - can leave residual of fatty/fibrous tissue
Can be in airway, perineum, viscera
GLUT1 positive
If multiple (>5) may be associated with liver haemangioma - get USS
If liver haemangioma -check thyroid function - tumour expression of iodothyronine deiodinase - inactivates T3/4
Need intervention if affecting eye
Can destroy hair follicles - treat if on hairline or scalp
Ulceration in 10% - can destroy tissue
Associated with PHACE syndrome, LUMBAR association syndrome
PHACE - posterior fossa brain malformations, infantile haemangioma of the face (segmental), arterial cerebrovascular anomalies (e.g. aneurysm, occlusion, stenosis), cardiac anomalies (e.g. aortic coarctation, right sided aortic arch) and eye abnormalities (e.g. micro-ophthalmia)
May have Airway haemangioma
LUMBAR - Lower body infantile haemangioma, urogenital anomalies and ulceration, myelopathy, body deformities, anorectal malformations, and arterial anomalies association
Present initially with anorectal malformations, then haemangioma later develops
Tethered cord, spinal lipoma and intraspinal haemangioma are possible lumbosacral segmental infantile haemangioma
Management
Refer to MDT & vascular malformations clinic
Propranolol first line can be given for 9 months, needs monitoring, as can cause hypotension and hypoglycaemia.
RCT 2015 88% improved by week 5
Triamcinolone injections monthly
Laser therapy for telangiectasia
Excise if in critical area and failed medical management
Congenital haemangioma
Fully grown at birth, do not expand
Can be violaceous or thickened plaque with pale halo
RICH, NICH, PICH = Rapidly, non, partially involuting CH
RICH - rapid regression in 1st year
NICH - grows proportionally with child
PICH - start to involute then stop
GLUT-1 negative
Large RICH can ulcerate centrally, sequester platelets, cause haemodynamic instability as are high flow
Management
Conservative - medications often not effective
Excision biopsy if doubt of diagnosis
Excise if non-involuting and causing pain/cosmetic issues
Other benign vascular tumours: Pyogenic granuloma, Hobnail, Littoral cell Haemangioma of spleen, Papillary haemangioma
Locally aggressive tumours
Kaposiform Haemangioendothelioma (tufted Angioma)
Large >5cm tense red/purple, ill defined mass/plaque
May regress, but leaves fibrosis
GLUT 1 negative
Can present with Kasabach-Merritt phenomenon (consumptive thrombocytopenia)
Needs MRI with gadolinium - T2 hyperintense lesion with poorly defined margins
Treat with Vincristine + prednisolone
If failed medical management - can excise - do not give platelets, instead give cryoprecipitate
Other locally aggressive tumours: Kaposis sarcoma - associated with HIV infection
Malignant tumours
Epithelioid Haemangioendothelioma, Angiosarcoma
Manage as per soft tissue sarcoma
Page edited by Mrs Charnjit Seehra BSc November 2024
References
ISSVA Classification of Vascular Anomalies ©2018 International Society for the Study of Vascular Anomalies Available at "issva.org/classification"
Hirschl, Ron, et al., editors. "Vascular Malformations." Pediatric Surgery NaT, American Pediatric Surgical Association, 2020. Pediatric Surgery Library, www.pedsurglibrary.com/apsa/view/Pediatric-Surgery-NaT/829084/all/Vascular_Malformations.
Naganathan S, Tadi P. Klippel-Trenaunay-Weber Syndrome. [Updated 2023 Apr 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK558989/
McDonald J, Stevenson DA. Hereditary Hemorrhagic Telangiectasia. 2000 Jun 26 [Updated 2021 Nov 24]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1351/