Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States

Katherine Abell, Sarah E. Chadwell, Thomas Andrew Burrow, Ana Paula Pizzio Becker, Laurie Bailey, Paul Steele, Xue Zhang, Miguel Islas-Ohlmayer, Rosane Bittencourt, Ida Vanessa Doederlein Schwartz, Carlos E. Prada

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)1052-1059
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume184
Issue number4
DOIs
StatePublished - Dec 2020

Keywords

  • Gaucher disease
  • gammopathy
  • lysosomal storage disease
  • monoclonal gammopathy of undetermined significance
  • multiple myeloma
  • screening

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