Elsevier

Blood Cells, Molecules, and Diseases

Volume 68, February 2018, Pages 203-208
Blood Cells, Molecules, and Diseases

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease

https://doi.org/10.1016/j.bcmd.2016.10.008Get rights and content
Under a Creative Commons license
open access

Abstract

Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed. To this end, a modified Delphi procedure among 25 experts was performed. Based on a literature review and with input from patients, 65 potential goals were formulated as statements. Consensus was considered to be reached when ≥ 75% of the participants agreed to include that specific statement in the management goals. There was agreement on 42 statements. In addition to the traditional goals concerning haematological, visceral and bone manifestations, improvement in quality of life, fatigue and social participation, as well as early detection of long-term complications or associated diseases were included. When applying this set of goals in medical practice, the clinical status of the individual patient should be taken into account.

Keywords

Gaucher disease
Therapy
Management goals
Delphi study
PROMs

Cited by (0)