Libby’s parents discovered they were carriers of a type 1 Gaucher disease GBA gene mutation when they opted to do a carrier screening before they became pregnant with Libby.3
Libby underwent newborn screening and was diagnosed with type 1 Gaucher disease with the N370S mutation.5 She underwent routine monitoring every 6 months. Her doctors monitored her spleen and liver volumes, bone marrow infiltration, hemoglobin, and platelet counts.6 They also routinely took blood tests to monitor the following: glucosylsphingosine (lyso GL-1), chitotriosidase (CHIT1), chemokine ligand 18 (CCL-18), tartrate-resistant acid phosphatase (TRAP), and angiotensin-converting enzyme (ACE).6,7
By age 5, Libby’s tests showed evidence for an enlarged spleen and abnormal platelet counts3 and her doctor recommended initiating ERT. After discussing the risks and benefits of therapy with her doctor, Libby’s parents selected VPRIV and Libby started receiving infusions before entering elementary school.
Consider
Type 1 Gaucher is a progressive, multi-systemic disease and routine monitoring is recommended.8
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VPRIV OnePath® Start Form
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VPRIV Patient Profiles
