title: Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study.
abstract: Gaucher disease (GD) is a lysosomal storage disorder, caused by deficient activity of the enzyme glucocerebrosidase. GD is classically divided into three major phenotypes. The most prevailing form is type 1, which presents with variable hepatosplenomegaly, cytopenia, and/or bone disease. In adult patients with mild manifestations, progress of disease might be slow or even absent. As a consequence, treatment with intravenous enzyme replacement or substrate reduction is not always necessary. In the Netherlands, the follow-up of GD patients is centralized, which allows detailed investigation of untreated patients. A retrospective study was conducted in 18 type 1 GD patients, (2 teenagers: 15 and 16 years of age at first visit) who were not treated for at least one year. The chitotriosidase activity, platelet count, hemoglobin level, lumbar bone marrow fat content measured with quantitative chemical shift imaging (QCSI), liver ratio (ml/kg body weight), and spleen volume were recorded. Criteria were developed to score regression, stability or progression of disease. During a mean follow up of 4.5 years (range 1.1-12.2) seven patients (39%) showed spontaneous regression of GD. Eight patients (44%) were stable. Two patients had progressive disease, solely based upon a sustained increase in chitotriosidase activity. A pediatric patient had an increase in splenomegaly but an improvement in bone marrow fat fraction, probably due to aging. Nine patients fulfilled the local criteria to start treatment at first visit, of whom six started treatment within 1.1 to 6.8 years. The other three refused therapy, but nevertheless showed stability or even regression of the disease during a follow up of 4.6, 9.5 and 11.4 years respectively. None of the parameters was predictive of progression or regression of disease. In conclusion, GD in adults can, in some cases, regress spontaneously. No parameters for accurately predicting future disease course exist.
authors.affiliation: Department of Internal Medicine, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Jooske M F
authors.initials: JM
authors.lastname: Boomsma
authors.forename: Laura
authors.initials: L
authors.lastname: van Dussen
authors.forename: Maaike G
authors.initials: MG
authors.lastname: Wiersma
authors.forename: Johanna E M
authors.initials: JE
authors.lastname: Groener
authors.forename: Johannes M F G
authors.initials: JM
authors.lastname: Aerts
authors.forename: Mario
authors.initials: M
authors.lastname: Maas
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001853:Bone Marrow / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D005223:Fats / Q000378:metabolism; D005260:Female; D005776:Gaucher Disease / Q000473:pathology* / Q000628:therapy; D006454:Hemoglobins / Q000032:analysis; D006596:Hexosaminidases / Q000097:blood; D006801:Humans; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010976:Platelet Count; D012189:Retrospective Studies; D013154:Spleen / Q000473:pathology; D055815:Young Adult
chemical_list: D005223:Fats; D006454:Hemoglobins; D006596:Hexosaminidases; C086400:chitotriosidase