Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
Enzyme replacement was introduced as treatment for non-neuronopathic Gaucher disease more than 15 years ago. To ensure the best use of this costly ultra-orphan agent, a systematic disease management approach has been proposed by an international panel; this includes the development, by consensus, of achievable treatment goals. Here we critically review these goals and monitoring guidelines and incorporate emerging experience of the disease in the therapeutic era, as well as contemporary clinical research. This review makes recommendations related specifically to the management of pregnancy; the appropriate use of splenectomy and bisphosphonate treatment; the relevance of biochemical markers to disease monitoring; and the use of semi-quantitative methods for assessing bone marrow infiltration. In addition, we identify key areas for development, including the requirement for a validated index of disease severity; the need to correlate widely used biomarkers with long-term disease outcomes, and the desirability of establishing agreed standards for monitoring of bone disease particularly in infants and children with Gaucher disease.
Cox
T M
TM
Department of Medicine, University of Cambridge, Addenbrooke's NHS Foundation Hospitals Trust, Cambridge, UK. tmc12@medschl.cam.ac.uk
Aerts
J M F G
JM
Belmatoug
N
N
Cappellini
M D
MD
vom Dahl
S
S
Goldblatt
J
J
Grabowski
G A
GA
Hollak
C E M
CE
Hwu
P
P
Maas
M
M
Martins
A M
AM
Mistry
P K
PK
Pastores
G M
GM
Tylki-Szymanska
A
A
Yee
J
J
Weinreb
N
N
D015502:Absorptiometry, Photon; D015415:Biomarkers; D001847:Bone Diseases / Q000175:diagnosis*; D004164:Diphosphonates / Q000627:therapeutic use*; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000628:therapy*; D006801:Humans; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011248:Pregnancy Complications / Q000628:therapy*; D013156:Splenectomy
D015415:Biomarkers; D004164:Diphosphonates