title: Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.
abstract: BACKGROUND
  There are three recombinant enzymes available for the treatment of Gaucher disease (GD): imiglucerase, velaglucerase alfa, and taliglucerase alfa.
  
  
  METHODS
  A male GD type III patient, 14 years old, genotype p.L444P/L444, diagnosed at 2 years old. He had been treated with imiglucerase for 9 years since the diagnosis. In 2008, however, he presented a severe adverse reaction to imiglucerase, characterized by cough, laryngeal stridor, and periorbital edema. The infusions were suspended for 3 months when imiglucerase was restarted with premedication and a slower infusion rate. After 5 months, he presented a new adverse reaction with vomiting, tachypnea, cough, and periorbital edema. Intradermal testing confirmed IgE-mediated reaction but serological tests were negative. After 2 years and 10 months with no specific treatment and a significant worsening of the clinical picture, taliglucerase alfa was prescribed, with premedication and a slower infusion rate. At the first infusion, he presented moderate adverse reaction and the infusions were suspended. After 2 months, velaglucerase alfa was initiated uneventfully. He maintains day-hospital infusions without premedication and shows improvement of clinical and laboratory parameters.
  
  
  CONCLUSIONS
  This is the first report of the use of velaglucerase alfa in patients with GD type III. The use of recombinant enzymes is safe for the majority of GD patients, but severe reactions may occur even many years after the beginning of the treatment. Premedication and slower infusion rate reduce the incidence of adverse reactions but may not solve the problem. This case report further demonstrates the different safety profile among all the recombinant enzymes available for the treatment of GD.
authors: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcellos, 2350, Porto Alegre, RS, 90035-903, Brazil, fvairo@hcpa.ufrgs.br.
authors: Filippo
authors: F
authors: Vairo
authors: Cristina
authors: C
authors: Netto
authors: Alicia
authors: A
authors: Dorneles
authors: Suzana
authors: S
authors: Mittelstadt
authors: Matheus
authors: M
authors: Wilke
authors: Divair
authors: D
authors: Doneda
authors: Kristiane
authors: K
authors: Michelin
authors: Camila Blos
authors: CB
authors: Ribeiro
authors: Amanda
authors: A
authors: Quevedo
authors: Tatiane
authors: T
authors: Vieira
authors: Tatiele
authors: T
authors: Nalin
authors: Sônia
authors: S
authors: Lueska
authors: Ida Vanessa D
authors: IV
authors: Schwartz