Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study |
| |
| Authors: | Jooske M.F. Boomsma Laura van Dussen Maaike G. Wiersma Johanna E.M. Groener Johannes M.F.G. Aerts Mario Maas Carla E.M. Hollak |
| |
| Affiliation: | 1. Gaucher Clinic, Shaare Zedek Medical Center, The Hebrew University-Hadassah School of Medicine, Jerusalem, Israel;2. Department of Radiology, Yale University School of Medicine, New Haven, CT, USA;3. Shire, Lexington, MA, USA;1. Department of Radiology, Division of Interventional Radiology, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY;2. Department of Medicine, Division of Pulmonary & Critical Care Medicine, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY;3. Department of Medicine, Division of Cardiology, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY;4. Department of Cardiothoracic Surgery, New York-Presbyterian Hospital/Weill Cornell Medical Center, New York, NY;1. Department of Paediatrics, University Magna Graecia of Catanzaro, Catanzaro, Italy;2. Graduate School in Teaching, University Roma Tre, Rome, Italy;3. Rare Metabolic Diseases Unit, Paediatric Clinic, San Gerardo Hospital, University Milano Bicocca, Monza, Italy;1. Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA;2. Department of Pediatrics, Stony Brook University School of Medicine, Stony Brook, New York, NY 11794-8111, USA |
| |
| 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. |
| |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
