A Case Report of Fabry Disease Associated with Dermatomyositis
10.12376/j.issn.2097-0501.2023.01.015
- VernacularTitle:法布雷病合并皮肌炎一例
- Author:
Yi ZHOU
1
,
2
;
Chanyuan WU
3
,
4
;
Kang′an CHENG
4
,
5
;
Liang WANG
4
,
5
Author Information
1. Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Beijing 100037, China.
3. Department of Rheumatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
4. Peking Union Medical College, Beijing 100730, China.
5. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &
- Publication Type:Journal Article
- Keywords:
Fabry disease;
dermatomyositis;
autoimmune disease
- From:
JOURNAL OF RARE DISEASES
2023;2(1):110-114
- CountryChina
- Language:Chinese
-
Abstract:
Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A (α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide (Gb-3) and other glycosphingolipids in the lysosome of cells, resulting in the dysfunction of relevant tissues and organs. We report the clinical characteristics of a case of Fabry disease with dermatomyositis. The patient, a 61-year-old male, presented with intermittent amaurosis, limb weakness and dyspnea on exertion. Based on the low α-Gal A activity and positive anti-myositis antibodies, diagnosis of Fabry disease with dermatomyositis were confirmed. We reviewed the relevant literature and found that co-existence of Fabry disease and autoimmune diseases was very rare, but it is not rare for patients with Fabry disease to have some autoimmune antibody positive, suggesting that Fabry disease and autoimmune diseases may be related in pathogenesis.
