Novel Management and Screening Approaches for Haematological Complications of Gaucher’s Disease

Figures & data

Figure 1 Flow chart. Identification of studies.

Table 1 Studies That Refer to Haematological Manifestations at Diagnosis

Author Year (Reference)	No Cases	Anaemia (%)	Thrombocytopaenia (%)	Hepatomegaly (%)	Splenomegaly (%)
Medoff and Bayrd 1954^Citation20	29		83.0	79.0	100
Giraldo P et al 2000^Citation27	155	46.0	83.5	61.2	71.7
Thomas et al 2012^Citation31	45	20.0	59.0	44.0	82.0
Essabar et al 2015^Citation23	11	56.0		100	100
Mistry et al 2017^Citation30	212	46.6	81.0	68.0	81.0
Weinreb et al 2021^Citation28	310	40.6	100	40.0	90.0

Table 2 Screening Programmes for Lysosomal Diseases Based on Haematological Data or Biomarkers

Author Year (Reference)	Period Study	No Cases Screened	No Cases Identified	Positive Predictive Value (%)	General Prevalence of GD
Fuller et al 2011^Citation55	2003–2007	1415	9		Australia (retrospective)
Motta et al 2015^Citation51	2010–2013	196	7	18.4	Italy 1/100,000
Huang et al 2020^Citation50	2016–2019	786	55	37.4	China 1/80,000
Miyamoto et al 2021^Citation52	2016–2018	994	12		Japan 1/330,000
Tang et al 2021^Citation56		142	52		China

Abbreviation: GD, Gaucher disease.

Table 3 Haemostatic Abnormalities

Author Year (Reference)	No Cases	Decreased Factors	Platelets Dysfunction	Prolongation PT/APPT	Increased D Dimer or Reduction PC/PS
Billett et al 1996^Citation60	9	II, V, VIII, XI	–	Yes	–
Hollak et al 1997^Citation61	30	II; V; VII; VIII; IX, X, XI, XII	Yes	Yes	Yes
Katz et al 1999^Citation62	22	V, VIII, IX, XI, XII	–	Yes	–
Giona et al 2006^Citation63	15	II, V, VII, VIII, IX, X, XI, XII, vWF	Yes	Yes	–
Deghady et al 2006^Citation64	10	II, V, VII, VIII, IX, X, XI, XII	–	Yes	–
Spectre et al 2011^Citation17	48	–	Yes	–	–
Givol et al 2012^Citation66	7	XI	Yes	No	_
Mitrovic et al 2012^Citation65	31	II, V, VII, VIII, IX, X, XI, XII, vW	Yes	Yes	–
Komninaka et al 2020^Citation67	29	VIII, vWF, ADAMTS13	Yes	Yes	Yes

Abbreviations: PT, prothrombin time; APPT, activated partial thromboplastin time; PC, C protein; PS, S protein; vWF, von Willebrand factor.

Table 4 Haematological Complications in GD1

Author Year (Reference)	No Cases	Hyperimmunoglobulin	Haematol Neoplasia	Risk (%)	Others
Shiran et al 1993^Citation85	48	–	5	10.4	–
Gielchinsky et al 2001^Citation80	89	–	–		B12 deficiency (36)
Rosenbloom et al 2005^Citation90	2742 (ICGG)	–	10 (MM)	5.9	–
de Fost et al 2005^Citation93	131	–	5	12.7*	–
Zimran et al 2005^Citation91	505	–	8	14.6	–
Wine et al 2007^Citation81	23 paediatrics	Yes	–	–	–
Taddei et al 2009^Citation94	403	–	8	3.45**	–
Weinreb et al 2013^Citation96	184	–	8	14.6	–
Rodic et al 2013^Citation99	27	Yes	11 (MGUS)	–	–

Notes: *The relative risk for MM 51.1; **The relative risk for MM 25.0.

Abbreviations: GD1, Type 1 Gaucher disease; ICGG, International Collaborative Gaucher Group; MM, multiple myeloma; MGUS, monoclonal gammopathy of undetermined significance.

Table 5 Cases Reported with Co-Existence of GD and Hematological Diseases

Author Year (Reference)	Haematol Neoplasia	Non-Neoplastic Haematol
Lester et al 1984^Citation115	–	ITP
Petrides et al 1998^Citation117	CML	–
Haliloglu et al 1999^Citation112		Budd-Chiari
Webb et al 2011^Citation122	Chronic myeloproliferative neoplasia	–
Miri-Moghaddam et al 2011^Citation113	–	α-thalassaemia
Ranade et al 2013^Citation103	LAL
Villarrubia et al 2014^Citation118	MDS (del5q)	–
Kubo et al 2014^Citation119	–	Epidural haematoma
Noya et al 2018^Citation120	CML	–
Kose et al 2019^Citation114	–	Severe neutropaenia
Ruchlemer et al 2020^Citation121	MDS & ICUS	–
Maity et al 2021^Citation116	AML	–

Abbreviations: GD, Gaucher disease; ITP, immune thrombocytopenia; CML, chronic myeloid leukaemia; LAL, lymphoblastic acute leukaemia; MDS, Myelodysplastic syndrome; ICUS, idiopathic cytopenia of undetermined significance; AML, acute myeloid leukaemia.

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