Minireview
Fabry disease revisited: Management and treatment recommendations for adult patients

https://doi.org/10.1016/j.ymgme.2018.02.014Get rights and content
Under a Creative Commons license
open access

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the GLA gene leading to deficient α-galactosidase A activity, glycosphingolipid accumulation, and life-threatening complications. Phenotypes vary from the “classic” phenotype, with pediatric onset and multi-organ involvement, to later-onset, a predominantly cardiac phenotype. Manifestations are diverse in female patients in part due to variations in residual enzyme activity and X chromosome inactivation patterns. Enzyme replacement therapy (ERT) and adjunctive treatments can provide significant clinical benefit. However, much of the current literature reports outcomes after late initiation of ERT, once substantial organ damage has already occurred. Updated monitoring and treatment guidelines for pediatric patients with Fabry disease have recently been published. Expert physician panels were convened to develop updated, specific guidelines for adult patients. Management of adult patients depends on 1) a personalized approach to care, reflecting the natural history of the specific disease phenotype; 2) comprehensive evaluation of disease involvement prior to ERT initiation; 3) early ERT initiation; 4) thorough routine monitoring for evidence of organ involvement in non-classic asymptomatic patients and response to therapy in treated patients; 5) use of adjuvant treatments for specific disease manifestations; and 6) management by an experienced multidisciplinary team.

Keywords

Fabry disease
Diagnosis
Mutation
Management
Treatment

Abbreviations

ACEI
angiotensin converting enzyme inhibitor
ARB
angiotensin receptor blocker
AV
atrioventricular
α-Gal A
α-galactosidase A
CKD
chronic kidney disease
CNS
central nervous system
CT
computed tomography
DBS
dried blood spots
ECG
electrocardiography
eGFR
estimated glomerular filtration rate
ENT
ear, nose, and throat
ERT
enzyme replacement therapy
GFR
glomerular filtration rate
GI
gastrointestinal
GL-3
globotriaosylceramide
IENFD
intra-epidermal nerve fiber density
IgG
immunoglobulin G
IV
intravenous
LV
left ventricular
LVH
left ventricular hypertrophy
LVMI
left ventricular mass index
lyso-GL-3
globotriaosylsphingosine
MBD
metabolic bone disorder
MRI
magnetic resonance imaging
TIA
transient ischemic attack
TOF MRA
time-of-flight magnetic resonance angiography (head and neck)
TRPV1
transient receptor potential vanilloid 1
VUS
variants of unclear significance

Cited by (0)