title: Thrombocytopenia associated with galsulfase treatment.
abstract: Mucopolysaccharidosis type VI (MPS VI), or Maroteaux-Lamy syndrome, is a lysosomal storage disorder that results from a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase or arylsulfatase B (ASB). It is a relatively rare disorder, with an estimated incidence of 1 in 248,000 to 1 in 300,000. The diagnosis is made on the basis of findings of elevated urine glycosaminoglycans and a deficiency of ASB activity in leukocytes or cultured fibroblasts. In treatment of MPS VI, enzyme replacement therapy (galsulfase; human recombinant ASB enzyme) became available. Infusions of galsulfase were generally well tolerated. But in some patients, infusion-associated reactions including rash, urticaria, headache, hypotension, nausea, and vomiting were documented and were managed successfully by interrupting or slowing the rate of infusion and/or by the administration of antihistamines, antipyretics, corticosteroids, or oxygen. Here, we report a case with MPS VI who developed thrombocytopenia after third dose of therapy. To the best of our knowledge, this is the first report about thrombocytopenia associated with galsulfase therapy in the literature. Additionally, with this report, we want to share our approach for this case.
authors.affiliation: Department of Pediatrics, Division of Pediatric Endocrinology, School of Medicine, Yuzuncu Yil University, Van, Turkey. doganmurat.md@gmail.com
authors.forename: Murat
authors.initials: M
authors.lastname: Doğan
authors.forename: Yasar
authors.initials: Y
authors.lastname: Cesur
authors.forename: Erdal
authors.initials: E
authors.lastname: Peker
authors.forename: Ahmet F
authors.initials: AF
authors.lastname: Oner
authors.forename: Sekibe Zehra
authors.initials: SZ
authors.lastname: Dogan
mesh_terms: D002675:Child, Preschool; D004305:Dose-Response Relationship, Drug; D006801:Humans; D007262:Infusions, Intravenous; D008297:Male; D009087:Mucopolysaccharidosis VI / Q000175:diagnosis / Q000188:drug therapy* / Q000378:metabolism; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000009:adverse effects*; D011994:Recombinant Proteins / Q000009:adverse effects; D013921:Thrombocytopenia / Q000139:chemically induced* / Q000473:pathology
chemical_list: D011994:Recombinant Proteins; D020051:N-Acetylgalactosamine-4-Sulfatase; C508864:galsulfase