PracticeUpdate Conference Series_WORLDSymposium 2019

Gammopathies More Common in Patients >50 Years With Gaucher Disease Patients with Gaucher disease who are >40 years of age should be screened for gammopathy.

A s in the general population and previous studies of Gaucher disease, gammo- pathies are more common in patients >50 years of age. Patients with Gaucher disease who are >40 years of age should be screened for gammopathy, a new study fnds. Carlos E. Prada, MD, of Cincinnati Children's Hospital in Ohio, and colleagues analyzed clinical and laboratory data, including screening for multiple myeloma, in adults with Gaucher disease at their center between 2010 and 2018. During the 8-year study period, 20 adults with Gaucher disease (11 females and 9 males) aged 19 to 71 (mean, 51.95) years were screened for multiple myeloma using serum protein electrophoresis and immunofixation. Of those, 10 were treated with substrate reduction therapy and 9 with enzyme therapy. No patients with multiple myeloma, 2 with monoclonal gammopathy of unknown sig- nifcance, and one with persistent polyclonal gammopathy were identified. The 2 patients with monoclonal gammopathy of unknown signifcance were 48 and 61 years of age, female and male, respectively, with intact spleens. Follow-up with regard to serum protein electrophoresis and immunofxation has been stable without progression. The patient with polyclonal gammopathy was a 54-year-old male who had been splenectomized. All patients with abnormal serum protein electrophoresis or immunofixation were receiving therapy (two enzyme replacement therapy, one substrate reduction therapy). Only one abnormal patient’s GBA genotype was known (p. Asn409Ser, p.Leu483Pro). Other abnormalities of serum protein electrophoresis included slight increases/ decreases in albumin, protein, and β-globulin, or slight decreases in α2 or γ globulin without clinical significance. Family history of cancer was documented in 10 individuals, with no multiple myeloma or blood-related malignancies reported. Dr. Prada explained that Gaucher disease is a lysosomal storage disease character- ized by deficiency of glucocerebrosidase within lysosomes, altering degradation of glycosphingolipids, which causes accumulation of glycosylceramide. Patients with Gaucher disease I experience an increased incidence of gammopa- thy (that is, hypergammaglobulinemia, monoclonal gammopathy of undetermined significance) and multiple myeloma vs the general population. No formal evaluation of gammopathy screening has been reported. Glucocerebroside accumulates in cells and certain organs. The disorder is character- ized by bruising, fatigue, anemia, low platelet count, and liver and spleen enlargement. Glucocerebroside accumulates, particularly in leukocytes and especially in mac- rophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone marrow. Skeletal disorders and bone lesions may be painful. Severe neurological complications, swelling of the lymph nodes, and (occasionally) adjacent joints, distended abdomen, a brownish tint to the skin, anemia, and yellow fatty deposits on the sclera are also features. Patients affected seriously may also be more susceptible to infection. Clinical features and treatment responses are heterogeneous. Skeletal disease is complex, and a proportion of patients do not respond or progress despite Gaucher- specific therapy. Determinants of skeletal response are not known. Dr. Prada concluded that as in the general population and in previous studies of Gaucher disease, gammopathies are more common in patients >50 years of age. The data support screening in Gaucher disease I for gammopathy in patients >40 years of age.

" Family history of cancer was

documented in 10 individuals, with no multiple myeloma or blood- related malignancies reported. "

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