Background/Purpose: Fabry’s disease (FD) is a lysosomal disorder leading to progressive systemic involvement, including neurologic and vascular. We hypothesize that the microangiopathy observed in FD could be documented, including at an early stage, by using nailfold capillaroscopy and assessing the presence of Raynaud’s phenomenon (RP). The objective of this study was to measure the prevalence of RP and nailfold capillaroscopic abnormalities in FD.

Methods: This cross-sectional study included a standardized questionnaire and a nailfold capillaroscopy assessing previous reported patterns in FD (dystrophic and giant capillaries, avascular fields, irregular architecture, dilatation and density of capillaries, hemorrhage), and was conducted on 32 Fabry patients and 39 controls. Two independent blinded reviewers carried out the analysis of capillaroscopic photographs.

Results:

Table 1 : Demographic and clinical characteristics of Fabry patients and controls

	Fabry patients	Control group	p value
n	32	39
Age, mean ± SD	45,5 ± 13,8	48,2 ± 11,5	0.38
Sex-ratio (males/females)	0,46 (10/22)	1,6 (24/15)	0.02
Smoking, n (%)	1 (3)	4 (10)	0.37
Cannabis, n (%)	0 (0)	0 (0)	1
Hypertension, n (%)	8 (25)	4 (10)	0.1
Hyperlipidemia, n (%)	4 (13)	4 (10)	1
Diabetes, n (%)	1 (3)	3 (8)	0.63
Pain in the extremities, n (%)	28 (88)	0 (0)	<0.001
Enzyme replacement therapy, n (%)	25 (78)	0 (0)	<0.001

Table 2 : Characteristics of patients suffering from Raynaud’s phenomenon (RP)

	Fabry patients	Control group	p value
Males with RP, n (%)	5/10 (50)	0/24 (0)	<0.001
Females with RP, n (%)	7/22 (32)	2/15 (13)	0.27
Total with RP, n (%)	12/32 (38)	2/39 (5)	<0.001

Patients with FD and RP all suffered from pain in the extremities, whereas none in the control group did (p = 0.011). RP was concomitant or prior to the occurrence of pain in the extremities in 42% of Fabry patients. Significantly more ramified capillaries were observed in Fabry patients (12/32, 38%) than in controls (5/39, 15%, p = 0.016). No other statistically significant difference was observed by nailfold capillaroscopy.

Conclusion: This study is, to the best of our knowledge, the largest one assessing nailfold capillaroscopy and the presence of RP in FD. RP was highly prevalent in our series of Fabry patients (38%) and involved 50% of males. FD should thus be considered as a cause of secondary RP. RP was concomitant or prior to the occurrence of pain in the extremities in almost 50% of Fabry patients. It could be, at least in part, a causal factor of these pains. Secondary RP should lead to a screening for FD, especially in men. By extension, in high-risk populations (i.e. hypertrophic cardiomyopathy, dialysis patients, stroke in young people), the presence of ramified capillaries and RP should also be assessed.

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ACR Meeting Abstracts - https://acrabstracts.org/abstract/prevalence-of-raynauds-phenomenon-and-nailfold-capillaroscopic-abnormalities-in-fabrys-disease-a-cross-sectional-study/