Cardiopulmonary involvement in Fabry's disease.
BACKGROUND
Fabry's disease is an X-linked lysosomal storage disease caused by deficiency of alpha-galactosidase A enzyme activity. Decreased enzyme activity leads to accumulation of glycosphingolipid in different tissues, including endothelial and smooth-muscle cells and cardiomyocytes.


OBJECTIVE
There is controversial data on cardiopulmonary involvement in Fabry's disease, because many reports are based on small and selected populations with Fabry's disease. Furthermore, the aetiology of cardiopulmonary symptoms in Fabry's disease is poorly understood.


METHODS
We studied cardiopulmonary involvement in seventeen patients with Fabry's disease (20-65 years, 6 men) using ECG, bicycle stress, cardiac magnetic resonance imaging, spirometry, diffusing capacity and pulmonary high-resolution computed tomography (HRCT) tests. Cardiopulmonary symptoms were compared to observed parameters in cardiopulmonary tests.


RESULTS
Left ventricular hypertrophy (LVH) and reduced exercise capacity are the most apparent cardiac changes in both genders with Fabry's disease. ECG parameters were normal when excluding changes related to LVH. Spirometry showed mild reduction in vital capacity and forced expiratory volume in one second (FEV I), and mean values in diffusing capacity tests were within normal limits. Generally, only slight morphological pulmonary changes were detected using pulmonary HRCT, and they were not associated with changes in pulmonary function. The self-reported amount of pulmonary symptoms associated only with lower ejection fraction (P < 0.001) and longer QRS-duration (P = 0.04) of all measured cardiopulmonary parameters, whereas cardiac symptoms have no statistically significant association with any of these parameters.


CONCLUSIONS
LVH and reduced exercise capacity are the most apparent cardiopulmonary changes in Fabry's disease but they have only a minor association to cardiopulmonary symptoms.Therefore, routine cardiopulmonary evaluation in Fabry's disease using echocardiography is maybe enough when integrated to counselling for aerobic exercise training.
Koskenvuo
Juha W
JW
Dept. of Clinical Physiology and Nuclear Medicine, Turku University Hospital, Finland. juhkos@utu.fi
Kantola
Ilkka M
IM
Nuutila
Pirjo
P
Knuuti
Juhani
J
Parkkola
Riitta
R
Mononen
Ilkka
I
Hurme
Saija
S
Kalliokoski
Riikka
R
Viikari
Jorma S
JS
Wendelin-Saarenhovi
Maria
M
Kiviniemi
Tuomas O
TO
Hartiala
Jaakko J
JJ
D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood / Q000378:metabolism; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D005080:Exercise Test; D017079:Exercise Tolerance; D000795:Fabry Disease / Q000097:blood / Q000150:complications* / Q000175:diagnosis* / Q000201:enzymology / Q000503:physiopathology; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000097:blood / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology* / Q000503:physiopathology; D008168:Lung / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D010101:Oxygen Consumption; D012720:Severity of Illness Index; D013147:Spirometry; D014057:Tomography, X-Ray Computed; D014797:Vital Capacity; D000519:alpha-Galactosidase / Q000097:blood / Q000378:metabolism
D015415:Biomarkers; D000519:alpha-Galactosidase