Deep vein thrombosis is a common life-threatening complication in mucopolysaccharidosis type II

Autor: Anatalia Labilloy, Carlos E. Prada, Lisa Berry, Robert J. Hopkin, Connie Wehmeyer
Rok vydání: 2019
Předmět:
Zdroj: Molecular Genetics and Metabolism. 126:S89
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2018.12.220
Popis: Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal disorder caused by deficiency of iduronate 2-sulfatase resulting in progressive accumulation of dermatan and heparan sulfate with multisystem involvement including neurological, respiratory, cardiac and skeletal. Long-term enzyme replacement therapy for MPS II has demonstrable benefits in walking ability, endurance and organomegaly and possibly life expectancy and is usually delivered by a central venous port system. Intravenous catheter use is a major risk factor for development of deep vein thrombosis (DVT) which isassociated with significant morbidity, including debilitating extremity pain and swelling, pulmonary embolism, superior vena cava syndrome as well as increased overall mortality. Data from patients who require long-term central venous access show a prevalence of catheter related DVT with obstruction of 3-5%, with higher rates of asymptomatic non-occlusive thrombi. Here we report a series of six individuals with MPS II that presented acutely with severe symptomatic DVT. Of our cohort of 18 MPS II patients, six (33.3 %) ages 12 to 27 years presented with symptomatic DVT, five of which coinciding with site of catheter placement. Veins affected included subclavian, jugular, axillary, common femoral, and brachial veins. All patients were admitted to the ICU and underwent chest CT angiogram, four of which revealed the presence of remarkable diffuse tortuous collateral veins. Coagulation profile and thrombophilia workup were unremarkable in all cases. In conclusion, symptomatic DVT in Hunter patients appears to be at a higher rate than those with long-term central access for other indications. Interestingly, the majority of patients with DVT showed evidence of extensive formation of tortuous collateral vessels. The pathogenesis of these findings remains unclear. This highlights the importance of further understanding mechanisms and clinical implications of DVT and vasculopathy as well as of adopting measures for screening and prevention of these findings in MPS II patients.
Databáze: OpenAIRE
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