Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine, Kobe, Japan.
Ueda Dermatology Clinic, Kako-gun, Japan.
J Dermatol. 2022 Feb;49(2):308-312. doi: 10.1111/1346-8138.16237. Epub 2021 Nov 19.
Fabry disease (FD), which is a lysosomal storage disease resulting from a deficiency of α-galactosidase A, leads to the accumulation of globotriaosylceramide in various tissues and multiorgan impairment. Early diagnosis is important to improve long-term prognosis. Early clinical manifestations of FD include neuropathic pain, vascular skin lesions, and sweating abnormalities. Hypohidorosis is one of the clinical findings in the early stage of FD. However, there have been no studies on prospective screening of FD in patients with definitive diagnosis of hypohidrosis. We examined α-galactosidase A activity in white blood cells in 17 (one female and 16 male) patients with generalized hypohidorosis. Among 17 patients, one male patient (approximately 5.8%) had significantly reduced α-galactosidase A activity. He presented with a history of hypohidrosis with heat intolerance and neuropathic tingling pain in a warm environment from 6 years ago. He had a few angiokeratoma on the trunk and extremities. Ultrastructural examination of skin biopsy from the angiokeratoma revealed lamellar inclusions in endothelial cells. Kidney biopsy revealed swollen podocytes and Gb3 deposition in the glomerulus, and urinalysis revealed mulberry bodies. He was finally diagnosed with FD and started on enzyme replacement therapy with agalsidase alpha in the early stage. In addition, his family screening led to find the patients of four additional FD. Screening for FD in patients with hypohidrosis may lead to efficient early detection of FD.
法布里病（FD）是一种溶酶体贮积病，由α-半乳糖苷酶 A 缺乏引起，导致糖鞘脂在各种组织中积累，引起多器官损伤。早期诊断对于改善长期预后很重要。FD 的早期临床表现包括神经病理性疼痛、血管皮肤病变和出汗异常。少汗症是 FD 早期的临床发现之一。然而，尚未有研究对明确诊断为少汗症的患者进行 FD 的前瞻性筛查。我们检查了 17 名（1 名女性和 16 名男性）全身性少汗症患者的白细胞α-半乳糖苷酶 A 活性。在 17 名患者中，1 名男性（约 5.8%）的α-半乳糖苷酶 A 活性显著降低。他有少汗症病史，伴有 6 年前在温暖环境下不耐热和神经病理性刺痛，躯干和四肢有几个血管角皮瘤。血管角皮瘤皮肤活检的超微结构检查显示内皮细胞中有层状包涵体。肾活检显示肾小球肿胀的足细胞和 Gb3 沉积，尿液分析显示桑葚体。他最终被诊断为 FD，并在早期开始使用 α-半乳糖苷酶 A 进行酶替代治疗。此外，他的家族筛查发现了另外 4 名 FD 患者。对少汗症患者进行 FD 筛查可能有助于早期发现 FD。
