Official websites use. Share sensitive information only on official, secure websites. We aimed to describe these immunoglobulin abnormalities in a large cohort of GD patients and to study the risk factors, clinical significance, and evolution. Data for patients enrolled in the French GD Registry were studied retrospectively.
Regression of MG and the occurrence of hematological malignancies were described. The patients included males, Risk of bone events or severe thrombocytopenia was not significantly associated with PG or MG. During follow-up, non-Hodgkin lymphoma developed in five patients and multiple myeloma in one. MG was observed in almost one third of patients with GD. Immunoglobulin abnormalities were not associated with the disease severity.
However, prolonged surveillance of patients with GD is needed because hematologic malignancies may occur. Keywords: Gaucher disease, polyclonal gammopathy, monoclonal gammopathy, multiple myeloma, monoclonal gammopathy of unknown significance.
This deficiency leads to an accumulation of its substrate, glucosylceramide, in macrophages, which then accumulate in the bone marrow, liver, spleen, brain, and lungs. GD is one of the most common lysosomal disorders and is characterized by its heterogeneity, from an asymptomatic form to lethal forms. There are currently two types of treatment for GD: enzyme replacement therapy ERT , supplying the GCase deficiency in the cells imiglucerase, velaglucerase, or taliglucerase , and substrate reduction therapy SRT , inhibiting GCase biosynthesis miglustat or eliglustat [ 1 ].
Their goal is to prevent complications such as massive splenomegaly, cytopenia, or avascular osteonecrosis, but they are not justified for all GD patients. In the general population, polyclonal gammopathy PG occurs in many contexts, such as chronic inflammation, liver diseases, autoimmune diseases, infections, and malignancies and results in an overproduction of immunoglobulin by B lymphocytes.
