Table 5.

Treatment of Manifestations in Individuals with TEK-Related Venous Malformations

Manifestation/ConcernTreatmentConsiderations/Other
VM Sclerotherapy (treatment of choice); foam aethoxysclerol & bleomycin are preferentially used as sclerosing agents
  • Mgmt depends largely on size & location of lesion(s).
  • Although sclerotherapy is the treatment of choice, sclerosing agents are not specific & can lead to ulceration if the VM is mucosal or involves the epidermis. 1
Surgical resection
  • More effective for well delineated &/or small lesions
  • For large VM, surgical resection gives better long-term result if performed after sclerotherapy.
Sirolimus 2 (See Table 6 & Targeted Off-label Therapies.)May be considered in persons w/VM that are refractory to sclerotherapy &/or surgery, or in persons who are ineligible for surgery/sclerotherapy
GI lesions
  • Iron replacement or transfusions in case of anemia from chronic bleeding
  • Other treatment options incl endoscopic sclerotherapy, band ligation, laser photocoagulation, & surgical resection.
Sirolimus (see Targeted Off-label Therapies) significantly ↓s bleeding in cases of VM & BRBN syndrome.
Coagulopathy Low-molecular-weight heparin (LMWH):
  • If D-dimers are ↑ & fibrinogen levels are low, LMWH should be initiated 1-2 weeks before surgery, depending on severity of coagulation abnormality, & continued for 2 weeks after surgery to reduce pre- and post-operative bleeding.
  • If fibrinogen levels are normal, LMWH can be initiated the day before surgery.
  • If lesions are painful & D-dimers are ↑ (higher than 2x normal range), LMWH can be used to alleviate pain. 3
  • Should be administered prior to any invasive procedure (i.e., surgery &/or sclerotherapy) to ↓ risk of DIC.
  • D-dimer levels can be used to evaluate efficacy of sclerotherapy & LMWH treatments, as levels will ↓ w/reduction of lesion size.
Family/Community
  • Ensure appropriate social work involvement to connect families w/local resources, despite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
  • Ongoing assessment of need for palliative care involvement and/or home nursing
  • Consider involvement in adaptive sports or Special Olympics.

DIC = disseminated intravascular coagulopathy; GI = gastrointestinal; LMWH = low-molecular-weight heparin; VM = venous malformation(s)

1.
2.

Sirolimus has not been approved by the FDA or EMA for the treatment of VM, and thus despite its efficacy it remains an off-label treatment to date.

3.

From: TEK-Related Venous Malformations

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