Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease
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RESEARCH
Patient reported outcome measures in a large cohort of patients with type 1 Gaucher disease Tama Dinur1, Majdolen Istaiti1, Dafna Frydman1, Michal Becker‑Cohen1, Jeff Szer3,4, Ari Zimran1,2 and Shoshana Revel‑Vilk1,2*
Abstract Background: It is now acknowledged that the input of patientsin health outcome assessment is vital to under‑ standing the impact of diseases and interventions for those diseases. This study is the first report of patient-reported outcome measures (PROM) in a large cohort of patients with type 1 Gaucher disease (GD1) enabling us to study predictors of the reported outcomes. Method: The PROM was sent via a mobile phone surveyto 405 adult patients with GD1. Demographics, clinical data, and treatment status were extracted from clinic charts. Age, sex, severity score index (SSI) at presentation and treat‑ ment status were used as variables to assess outcomes. Results: A total of 192 patients with GD1 (111 females) responded (47.4% response rate), of whom 124 (64.5%) had received GD1-specific therapy. Around 40% of patients reported that GD had restricted their education/job and fun activities and were concerned about being emotional and financial burdens on others. Concerns regarding the risk of bone disease and Parkinson disease were also high (60%). The severity of GD1 (reflected by the need for GD1-specific therapy and a high SSI) was associated with GD1-related restrictions and concerns, fatigue, physical weakness, bone pain, and worry regarding the future. Conclusions: The use of GD1 specific PROM highlights personal problems that are not captured by traditional out‑ come parameters and that need to be addressed to improve health-related quality of life. Validated PROM should be included among the outcome measures in clinical practice and future prospective studies for patients with chronic and rare diseases. Keywords: Gaucher disease, Patients reported outcome, Mobile survey, Adult patients, Quality of life Introduction Patient-reported outcome measures (PROM) were developed as a method to ascertain and quantitate patients’ views of their symptoms, their functional status, and their health-related quality of life (HRQoL) [1]. Patients’ reports are the best available and the most reliable and *Correspondence: [email protected] 1 Gaucher Unit, Shaare Zedek Medical Centre, P.O. Box 3235, 91031 Jerusalem, Israel Full list of author information is available at the end of the article
valid method for obtaining information on unobservable events such as pain and fatigue. The PROM provides unique information on a patient’s perception of both the disease and the management of the disease that could not be collected in any other way [2, 3]. Gaucher disease (GD), one of the two most common inherited lysosomal storage disorders, is known for its phenotypic heterogeneity [4, 5]. Patients with type 1 GD (GD1) may present with significant clinical features such as hepatosplenomegaly, thrombocytopenia, anemia,
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