Session Information
Session Type: Abstract Submissions (ACR)
Background/Purpose
Fabry disease (FD) in a X-linked hereditary lysosomal disorder due to alphagalactosidase A deficiency, leading to the accumulation of its substrate (globotriaosylceramide) in vessels, neurons, and heart. Pains are the most clinical dishabiliting symptom in children and young adults, characterized by chronic or acute burning sensation in the extremities. These acroparesthesias are often misdiagnosed as rheumatological disorders. Angiokeratomas, hypohidrosis and cornea verticillata are other common early clinical symptoms while hearing loss, hypertrophic cardiomyopathy, renal involvement and cerebrovascular disorders are the main complications, occurring after the second decade. Early diagnosis is crucial since the sooner enzyme replacement therapy (ERT) is prescribed in FD patients, the more efficient it is. The goal of this study was to determine the clinical pertinence of acroparesthesia to predict organ involvement in Fabry patients
Methods
Two hundred Fabry patients were systematically investigated for clinical symptoms i.e. acroparesthesia (ACR), angiokeratoma (AGK), hypohidrosis (HHD), and cornea verticillata (CV) and for organ complications i.e. hypoacousia (HAC), cerebrovascular (CER), renal (KDN) and heart (HEA) complications. Statistical analysis included Fischer’exact test and multiple stepwise logistic regression, a p-value lower than 0.01 being considered a significant
Results
Patients were 78 males, aged 37.7 ± 14.3 years and 122 females, aged 42.2 ± 16.4 years.. Male patients were more symptomatic than women for pain (70.5% vs 50.0%; p=0.004) but also for other clinical symptoms: AGK (64.% vs 27.9%; p<0.0001), HHD (66.7% vs 18.0%, p<0.0001), CV (62.8% vs 45.9%, p= 0.02). They were also more severely affected: HAC (40.0% vs 20.8%, p= 0.004)), HEA (53.8% vs 31.1%, p= 0.001), KDN (39.7 vs 16.3%; p<0.001), but not for CER. Compared with others, patients who presented pains had a rik of HAC 3.03 higher (1%CI: 1.41 – 6.50), of KDN 2.12 higher (1%CI 1.02 – 4.38), of HEA 1.80 higher (1%CI 1.08 – 3.00) than others. Presence of HHD, AGK and CV also correlated with organ complications. In multivariate analysis, after adjustement for age and gender, the absence of pain was an independent predictor for the absence of HAC (p< 0.0001), of HEA (p< 0.001), and of KDN (p= 0.008). The same results were obtained after inclusion of AGK, HHD and CV in multivariate analysis.
Conclusion
Fabry patients who exhibited chronic or acute acroparesthesia are at higher risk of organ involvement. Pains appear the best clinical predictor for Fabry complications. This early clinical symptom should be recognized by clinicians in order to start ERT as soon as possible
Disclosure:
P. Kaminsky,
SHIRE HGT,
6,
Genzyme Corporation,
6;
F. Barbey,
SHIRE,
6,
Genzyme Corporation,
6;
R. Jaussaud,
SHIRE,
6,
Genzyme Corporation,
6;
F. Gaches,
None;
V. Leguy-Seguin,
SHIRE,
6,
Genzyme Corporation,
6;
E. Hachulla,
Genzyme Corporation,
6;
T. Zenone,
SHIRE,
6;
C. Lavigne,
None;
C. Douillard,
None;
I. Marie,
Genzyme Corporation,
6;
B. Bienvenu,
Genzyme Corporation,
6,
Shire,
6;
B. Dussol,
None;
O. Lidove,
SHIRE,
6,
Genzyme Corporation,
6.
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ACR Meeting Abstracts - https://acrabstracts.org/abstract/pain-as-predictor-of-organ-involvement-in-fabry-disease/