Vascular malformations: Update Course 2015
Educational content from recorded physician discussions — not medical advice. Talk to your (or your child's) care team about your situation.
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What the experts said
If there are more than 5 cutaneous hemangiomas, the likelihood of having internal liver hemangiomas is more common, and screening is indicated.
If there is a palpable liver edge in a child with fewer than 5 hemangiomas, screening for hepatic hemangiomas should be considered.
Children with hepatic hemangiomas can become hypothyroid due to consumption within the liver hemangioma.
The standard treatment for hemangiomas is propranolol, with doses up to 3 mg per kilogram if the child is sick.
Corticosteroids can be added to propranolol to jumpstart treatment in sick children with hemangiomas.
AFP levels are followed on hemangiomas, and if elevated, they are monitored until they return to normal.
Hemangiomas are followed until they completely disappear because late change into angiosarcomas has been observed in two patients.
A screening ultrasound is performed at 5 years of age to ensure hemangiomas are completely gone.
Children with hepatic hemangiomas on propranolol require an exaggerated Synthroid dose for hypothyroidism, which resolves once the hemangioma improves.
Propranolol is started at 0.5 mg per kilogram and escalated up to 3 mg per kilogram as the maximum dose, with escalation within two or three days if heart rate, blood pressure, and glucose remain stable.
Hypoglycemia in poor feeders is a reason to reduce propranolol dose, occurring in one or two patients who could not tolerate the medication.
Ultrasounds are performed monthly initially to ensure treatment results in decreased hemangioma size, then every 3 months once stable or almost gone, and a screening ultrasound at 5 years if completely gone.
MRI is performed after hemangiomas are noted on initial ultrasound to provide better characterization and help liver surgeons plan future treatment if needed.
Intervention for hepatic hemangiomas is considered if there is significant heart failure, lesion growth, concerns about treatment response, or no response to medical therapy.
Embolization of hepatic hemangiomas is less common now because it results in necrotic tissue and the child still needs surgery eventually.
Liver interventions should be limited because the consequences can be significant; patients who had hemangiomas embolized experienced more consequences from embolization than from treatment.
Treatment for hepatic hemangiomas is more aggressive when infants have heart failure or coagulopathy.
Hepatic hemangiomas are categorized into three groups: focal, multiple, and diffuse. Multiple and diffuse types usually require treatment.
Focal liver hemangiomas behave like congenital hemangiomas or rapidly involuting congenital hemangiomas (RICH) and go away quickly on their own.
PHACES syndrome includes posterior fossa anomalies, arterial anomalies, cardiac anomalies, eye abnormalities, and developmental issues in children with segmental facial hemangiomas.
Children with segmental facial hemangiomas get MRI to look at posterior fossa and brain vasculature, screening echo, and eye exams.
Children with PHACES syndrome abnormalities are followed closely for developmental issues because they can develop significant developmental issues and learning disabilities as they get older.
PELVIS syndrome includes imperforate anus, hemangiomas, and irregular abnormal vasculature in the pelvis, mostly seen in babies with perineal fistula.
Children with PELVIS syndrome require spine screening because many have intraspinal abnormalities; they get screening spinal ultrasound early and MRI if significant findings are present.
Lower sacral midline hemangiomas or vascular malformations should be screened with ultrasound for underlying abnormalities.
Congenital hemangiomas are seen at birth or on prenatal imaging and include RICH (rapidly involuting), NICH (non-involuting), and PICH (partially involuting) types.
The biggest marker differentiating congenital hemangiomas from infantile hemangiomas is GLUT-1 staining; congenital hemangiomas are GLUT-1 negative.
Congenital hemangiomas are differentiated by natural history: infantile hemangiomas do not usually present at birth, while congenital hemangiomas have a halo and usually don't grow after birth.
Venolymphatic malformations are not biopsied if they look straightforward; biopsy is very bloody and unnecessary when imaging and clinical appearance are diagnostic.
Kaposiform hemangioendothelioma lesions are biopsied if there is concern.
A patient with venolymphatic malformation was treated for 2 years with rapamycin, achieving functional walking, dancing, and running, with only minimal debulking needed after medical treatment.
For venous malformations, sodium tetradecyl sulfate (STS) is used for sclerotherapy.
For lymphatic malformations, doxycycline or bleomycin is used for sclerotherapy.
Bleomycin use is approached with reluctance due to potential pulmonary fibrosis issues.
Sclerotherapy is performed every 3 to 4 weeks; the agent is injected, a catheter is left in overnight, and removed the following day.
After sclerotherapy, lesions swell up, get hard, and look worse in the first week before improving; results are typically seen within 3 to 4 weeks.
Management of complicated vascular lesions has shifted in the last 5 years from surgery as mainstay to multimodal approach using sclerotherapy, sirolimus, and surgery for cleanup.
Macrocystic lesions are targeted with sclerotherapy first in the multimodal approach.
Sclerotherapy is maximized when there are no more macrocystic lesions to target or when significant results are no longer achieved.
Sirolimus is used because there are PI3 kinase somatic mutations in vascular anomalies, and the mTOR inhibitor (rapamycin) targets downstream of PI3 kinase.
Phase 1 and phase 2 trials of sirolimus for vascular anomalies have been conducted at the speaker's institution in conjunction with multi-institutional trials.
Sirolimus has been used in almost any vascular anomaly and has been quite effective.
When sirolimus is weaned off or stopped, vascular lesions become more symptomatic.
Sirolimus levels are targeted at 8 to 10 (previously 10 to 15), and maintenance dosing uses even lower levels with once-daily instead of twice-daily dosing.
Sirolimus is held for one week or two after surgery for debulking due to delayed wound healing effects, though some studies in rabbits show no wound effect issue.
Asymptomatic large cystic lymphatic malformations in the abdomen are sometimes left alone; if symptomatic, they are sclerosed or excised depending on symptoms.
Sclerotherapy of large cystic lymphatic malformations is performed under general anesthesia because it is painful; an indwelling catheter is left in and patients are admitted.
Solid (microcystic) lymphatic malformations causing functional issues are treated with sirolimus, achieving response or stabilization in 70-80% of complicated lymphatic malformations.
Sirolimus does not cause complete disappearance of lymphatic malformations but achieves stabilization and potentially a small decrease in size.
Propranolol produces amazing results for hemangiomas, reducing the need for surgery and allowing treatment without scarring, with only touch-up laser needed afterwards.
Differentiating congenital hemangiomas from infantile hemangiomas is important because they are very different.
Collaborative multidisciplinary treatment of lymphatic malformations (sclerotherapy + rapamycin + surgery) benefits patients better than surgery alone, reducing scarring, post-operative issues, and recurrence.