Fabry Disease

Fabry Disease ◽

Patient Outcomes ◽

Ventricular Hypertrophy ◽

Unknown Origin ◽

Left Ventricular ◽

Enzyme Replacement ◽

Modest Effect

Fabry disease was initially believed to be a very rare disorder, but an increase in prevalence following screening studies revealed that it may be more frequent in a less severe (nonclassical) variant. The adult physician can encounter both phenotypes: classical disease arising in childhood, or after establishing the diagnosis in an adult male. The nonclassical phenotype is usually diagnosed after additional investigations in a patient with renal disease or left ventricular hypertrophy (LVH) of unknown origin. Enzyme replacement therapy (ERT) appears to have a modest effect in Fabry disease, and many challenges remain both in understanding the pathophysiology and natural history as well as in improving patient outcomes.

Effect of enzyme replacement therapy on serum asymmetric dimethylarginine levels, coronary flow reserve and left ventricular hypertrophy in patients with Fabry disease

Clinical Kidney Journal ◽

10.1093/ckj/sfs114 ◽

2012 ◽

Vol 5 (6) ◽

pp. 512-518 ◽

Cited By ~ 3

Author(s):

H. Fujii ◽

K. Kono ◽

T. Yamamoto ◽

T. Onishi ◽

S. Goto ◽

...

Keyword(s):

Fabry Disease ◽

Replacement Therapy ◽

Coronary Flow ◽

Ventricular Hypertrophy ◽

Asymmetric Dimethylarginine ◽

Left Ventricular ◽

Enzyme Replacement ◽

Flow Reserve

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis

International Journal of Medical Sciences ◽

10.7150/ijms.66448 ◽

2022 ◽

Vol 19 (1) ◽

pp. 126-131

Author(s):

Chung-Lin Lee ◽

Shuan-Pei Lin ◽

Dau-Ming Niu ◽

Hsiang-Yu Lin

Keyword(s):

Fabry Disease ◽

Replacement Therapy ◽

Ventricular Hypertrophy ◽

Meta Analysis ◽

Left Ventricular ◽

Enzyme Replacement

The long-term effect of enzyme replacement therapy on regression of left ventricular hypertrophy in patients with Fabry cardiomyopathy. Impact of baseline findings

Clinical Therapeutics ◽

10.1016/s0149-2918(07)80151-2 ◽

2007 ◽

Vol 29 ◽

pp. S30-S30

Author(s):

J. Strotmann ◽

M. Niemann ◽

E. Breunig ◽

S. Herrmann ◽

C. Wanner ◽

...

Keyword(s):

Replacement Therapy ◽

Ventricular Hypertrophy ◽

Left Ventricular ◽

Term Effect ◽

Enzyme Replacement ◽

Long Term Effect

p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease

Cardiology ◽

10.1159/000502437 ◽

2019 ◽

Vol 144 (3-4) ◽

pp. 125-130 ◽

Cited By ~ 1

Author(s):

Daniela Marisa Carvalho Silva ◽

Nuno Marques ◽

Olga Azevedo ◽

Gabriel Miltenberger-Miltenyi ◽

Dina Bento ◽

...

Keyword(s):

Fabry Disease ◽

Ventricular Hypertrophy ◽

Left Ventricular ◽

Gene Variants ◽

Fabry Patient ◽

Enzyme Replacement ◽

Disease Awareness ◽

Classic Phenotype ◽

Gla Gene

The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.

P799 The echocardiographic and clinical characteristics of Fabry patients without overt left ventricular hypertrophy but progressing despite on enzyme replacement therapy

European Heart Journal - Cardiovascular Imaging ◽

10.1093/ehjci/jez319.455 ◽

2020 ◽

Vol 21 (Supplement_1) ◽

Author(s):

S Y Lee ◽

S H Lee ◽

Y H Park

Keyword(s):

Replacement Therapy ◽

Antibody Formation ◽

Ventricular Hypertrophy ◽

Left Ventricular ◽

Enzyme Replacement ◽

Tertiary Center ◽

Group 2 ◽

Group 1

Abstract Background Fabry disease (FD) is X-linked genetic disorder caused by the deficiency or absent activity of lysosomal α- galactosidase. When the heart is involved, progressive left ventricular hypertrophy (LVH) is the key feature. Although, LVH is not present in all subjects, some of them progress with LVH despite enzyme replacement therapy (ERT). The present study aimed to evaluate the characteristics of patient of FD without overt LVH, but progresses with their left ventricular mass index (LVMI). Method : This study includes subjects carrying genetic mutations for FD without LVH (n = 12) in a single tertiary center. ‘Decreasing LVMI group (Group1)’ was defined when pre-ERT LVMI minus last LVMI value obtained by echocardiography was positive, and when negative, defined as ‘Increasing LVMI group (Group 2)’. The baseline characteristics and echocardiographic parameters including global strain was analyzed. Result : Total 6 patients were classified as Group 1 and 2 each. The median age at diagnosis for male was 21 vs 27 for each group, and 21 vs 31 for female. The median follow-up duration was 4.0 vs 5.7 yr. The antibody formation for replaced enzyme was 3 for Group 2 and any family member who developed overt LVH was much 1 vs 3 for group 1 vs 2. Initial 3 plane GLS was worse and showed trend to drop in Group 2. Conclusion : In the Fabry patients get worse with their LVMI but still not developed overt LVH despite enzyme replacement therapy, there are some clinical and echo-parameter difference. These findings could suggest insufficient enzyme replacement therapy. Group 1 (n = 6) Group 2 (n = 6) Female/Male 4/2 3/3 Age of at Dx (Female) (median) 21 28 Age of at Dx (Male) (median) 21 31 F/U duration (median) 4.0 yrs 5.7 yrs Antibody formation 0 3 Any Overt LVH family Genotype c.56T > C c.40-11T > A, 782_delG, c.658C > T Initial LVMI (Median) 98.2g/m2 70.9g/m2 Initial GLS (3P) -19 -17.8 Continuously elevated LysoGb3 2 4 Proteinuria >300mg 1 3 (1 preparing HD)