Long-term Complications and Management of Gastrointestinal Bleeding in Multifocal Lymphangioendotheliomatosis

Abstract

Multifocal lymphangioendotheliomatosis with thrombocytopenia is a rare disease characterized by multiple cutaneous and gastrointestinal (GI) vascular lesions and thrombocytopenia refractory to platelet and blood cell transfusions. GI bleeding can become life-threatening in this condition. We report a case of multifocal lymphangioendotheliomatosis with thrombocytopenia in a male infant with isolated GI involvement, diagnosed when he was 3 months old. The patient was managed with daily aminocaproic acid, octreotide drip, and corticosteroids for 13 months after diagnosis; he had complete resolution of symptoms by 2 years of age and showed adequate height and gain by 5 years of age. This case adds to the paucity of data in the literature pertaining to the disease’s phenotypic variability, long-term clinical course, and management of GI bleeding.

Successful Treatment With Everolimus for Multifocal Lymphangioendotheliomatosis With Thrombocytopenia in an Infant

“…However, these treatments sometimes do not include response, with a poor prognosis with high mortality or severe sequelae 2,6. Thrombocytopenia in MLT is consumptive in nature due to platelet trapping in the dilated vascular lumens of the lesions, and therefore refractory to platelet transfusions 11. An mTOR inhibitor inhibits the activation of T cells by blocking the transduction of calcium-dependent and calcium-independent intracellular signals while targeting the mTOR protein 12.…”

“…2,6 Thrombocytopenia in MLT is consumptive in nature due to platelet trapping in the dilated vascular lumens of the lesions, and therefore refractory to platelet transfusions. 11 An mTOR inhibitor inhibits the activation of T cells by blocking the transduction of calcium-dependent and calcium-independent intracellular signals while targeting the mTOR protein. 12 It has an antineoplastic effect and induces an inhibition of angiogenesis and lymphangiogenesis 13 ; moreover, our patient did not require platelet transfusions when the drug trough level of everolimus was elevated.…”

Nonpolypous Hamartomas of the Gastrointestinal Tract: An Updated Review on Classification, Denominations, and Clinical Management

“…[ 24 – 26 ]. It might be complicated with thrombocytopenia refractory to blood cell transfusions and life-threatening bleeding, with a subsequent mortality rate of 65% in newborns [ 24 , 27 ]. As this is a newly recognized entity, which was firstly described by North et al, there is no consensus on the proper therapy [ 25 , 28 ].…”

“…The rapamycin inhibitors such as sirolimus, combination of vincristine and prednisolone, and association of aminocaproic acid, octreotide drip, and corticosteroids were used in the cases reported in literature [ 25 – 28 ]. In refractory cases, the antiangiogenic therapy with bevacizumab was suggested to be used [ 27 ].…”