TY - JOUR
T1 - Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States
AU - Abell, Katherine
AU - Chadwell, Sarah E.
AU - Burrow, Thomas Andrew
AU - Becker, Ana Paula Pizzio
AU - Bailey, Laurie
AU - Steele, Paul
AU - Zhang, Xue
AU - Islas-Ohlmayer, Miguel
AU - Bittencourt, Rosane
AU - Schwartz, Ida Vanessa Doederlein
AU - Prada, Carlos E.
N1 - Funding Information:
The authors (Katherine Abell; Sarah E. Chadwell, Ana Paula Pizzio Becker, Laurie Bailey, Paul Steele, Xue Zhang, Miguel Islas‐Ohlmayer) of this manuscript certify that they have no conflicts of interest to disclose in regards to the subject matter and materials in this manuscript, including affiliations with or involvement in any organization or entity with any financial or nonfinancial interest relating to this publication. The authors (Thomas Andrew Burrow, Carlos E. Prada) disclose that they have received honoraria and consulting fees from Sanofi Genzyme and Takeda. The author (IVDS) discloses research funding from Takeda and Protalix.
Publisher Copyright:
© 2020 Wiley Periodicals LLC
PY - 2020/12
Y1 - 2020/12
N2 - Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p =.02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p =.009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p =.05), p.N409S allele (p =.032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.
AB - Multiple myeloma is the most common hematological malignancy in Gaucher disease type 1 (GD1). There is a lack of outcome data and consensus regarding screening of gammopathies. This study explores utility of screening in Porto Alegre, Brazil, and Cincinnati, Ohio. A retrospective analysis of clinical information and laboratory data from GD1 patients was performed. Over 19 years, 68 individuals with GD1 (31 males, 37 females) underwent screening, and 20 (29.4%) had abnormalities. Twelve (17.6%) had polyclonal gammopathy (mean age 24.2 years, p =.02), seven (10%) had monoclonal gammopathy of uncertain significance (MGUS; mean age 52.7 years, p =.009). One had multiple myeloma (age 61 years). Risk factors for MGUS included male gender (p =.05), p.N409S allele (p =.032). MGUS developed in six of 62 treated and two of four untreated individuals. Of those with MGUS receiving treatment, four were on enzyme replacement therapy (ERT) and one on substrate reduction therapy (SRT). Gammopathy normalized in 13 treated individuals (10 polyclonal, three MGUS) and remained abnormal in two treated individuals (two polyclonal, two MGUS). Gammopathy relapse was seen in one individual with MGUS and three with polyclonal gammopathy. This study describes screening for gammopathies and identifies risk factors in individuals with GD1.
KW - Gaucher disease
KW - gammopathy
KW - lysosomal storage disease
KW - monoclonal gammopathy of undetermined significance
KW - multiple myeloma
KW - screening
UR - http://www.scopus.com/inward/record.url?scp=85097081346&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.31870
DO - 10.1002/ajmg.c.31870
M3 - Article
C2 - 33277783
AN - SCOPUS:85097081346
SN - 1552-4868
VL - 184
SP - 1052
EP - 1059
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 4
ER -