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Table 1 Articles identified from PubMed literature search using terms “Gaucher Disease” and “Fatigue”

From: Rethinking fatigue in Gaucher disease

Reference Language Patients (N) Fatigue assessed? Fatigue tool Data description
Verderese et al., 1993 [13] English 12 Yes 5 questions All patients reported chronic fatigue as a pervasive problem at baseline; all perceived improvement at 4 months after starting ERT
Niederau et al., 1994 [14] English 5 Yes None mentioned Case reports of 5 patients with GD receiving ERT for 12–18 months; all reported marked reductions in fatigue within a few weeks after starting ERT
Gagnon et al., 1998 [15] English 24 Yes Questionnaire; fatigue either yes/no National Gaucher Foundation GD screening program; fatigue was the most commonly reported symptom (79.4 % of all respondents; only 24 patients had confirmed GD)
Hayes et al., 1998 [11] English 16 Yes Unspecified Patients asked open-ended questions about chronic fatigue which were based on components of several unspecified instruments; 88 % reported being easily fatigued
Niederau et al., 1998 [16] English 1 Yes None mentioned Case report of elderly patient with GD receiving ERT for 30 months; fatigue decreased within several months of starting ERT
Masek et al., 1999 [17] English 25 Yes SF-36 SF-36 administered before and after initiation of ERT; vitality domain (a measure of energy and fatigue) was improved significantly at 6, 12, 18, and 24 months vs. pretherapy
Khan et al., 2000 [18] English 1 Yes None mentioned Case report of diagnosis of adolescent patient with GD; fatigue mentioned as a presenting and persisting symptom
Chou et al., 2004 [19] English 1 No Case report of diagnosis of adolescent patient with GD
Tsai et al., 2008 [20] English 7 Muscle fatigue only Evaluation of myopathy in GD; 3 patients developed insidious, nonprogressive muscle weakness with easy muscle fatigue; other measures of fatigue not assessed
Shapiro et al., 2009 [21] English Describes clinical trial in patients with Tay-Sachs disease; not relevant to analysis of fatigue in GD
Samuels et al., 2012 [22] English 12 Yes FACIT-F “Additional concerns” of fatigue evaluated at baseline and following acupuncture treatment; mean scores on fatigue-specific scale of FACIT-F increased following acupuncture (27.6 vs. 35.9; P = 0.008)
Wyatt et al., 2012 [23] English 134 Yes FSS All patients receiving ERT; no longitudinal data; found no association between fatigue and time on ERT (P = 0.57)
Elstein et al., 2015 [24] English 38 No None Patients received velaglucerase alfa in an extension trial; reports of fatigue were collected as adverse events and as infusion-associated reactions
Stirnemann et al., 2015 [25] English 99 Yes None mentioned Retrospective collection of data on patients’ characteristics, treatment, and clinical and biological parameters; fatigue was reported in 8 % of patients
Dulgar et al., 2016 [26] English 1 Yes None mentioned Case report of 1 patient with tuberculosis and untreated GD; fatigue mentioned as symptom
Niederau et al., 2001 [27] German Unknown Unknown German recommendations for diagnosis and treatment of GD; fatigue mentioned as common symptom
Schaison et al., 2002 [28] French 108 Yes Unknown Fatigue alleviated by ERT
Juhász et al., 2012 [29] Hungarian 2 Unknown Case report of 2 patients diagnosed in late adulthood; fatigue mentioned as GD sign/symptom
Hansen et al., 2015 [30] Danish 1 Yes Unknown Case report of a 10-year-old girl with GD; extreme fatigue over several years was reported
  1. ERT enzyme-replacement therapy, FACIT-F Functional Assessment of Chronic Illness Therapy–Fatigue, FSS Fatigue Severity Scale, GD Gaucher disease, SF-36 36-item Short Form Health Survey