Barman Hasan Ali, Özcan Sevgi, Atıcı Adem, Özgökçe Caner, Öztürk Ahmet, Kafalı Ayşegül Ezgi, Çakar Nafiye Emel, Tavşanlı Mustafa Emir, Küçük Mehmet, Şahin Irfan, Okuyan Ertuğrul
Department of Cardiology, Okmeydanı Training and Research Hospital; İstanbul-Turkey.
Department of Internal Diseases, Okmeydanı Training and Research Hospital; İstanbul-Turkey.
Anatol J Cardiol. 2020 Jan;23(2):79-85. doi: 10.14744/AnatolJCardiol.2019.84782.
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventricular (LV) wall thickness and may mimic the morphological features of hypertrophic cardiomyopathy. The purpose of this study was to define the ratio of occurrence of FD to the manifestation of unexplained left ventricular hypertrophy (LVH).
We studied a prospectively assembled a consecutive cohort of 190 patients with unexplained LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness of 13 mm or greater. All patients were tested for mutations in the GLA gene.
The majority of patients were male (n=119, 63%) and the mean patient age was 47.2±115 years. In 190 patients diagnosed with LVH, we identified 2 patients (1.05%) with documented GLA mutations [c.427G>A (p.A143T)(p.Ala143Thr)] and [c.937G>T (p.D313Y)(p.Asp313Tyr)]. After the family screening, 3 additional patients with FD were identified in 2 families, including 5 individuals who are now receiving enzyme replacement therapy.
We identified 2 index patients with FD and unexplained LVH. Cardiologists should, therefore, be aware of FD in cases of unexplained LVH. Family screening is crucial for the earlier identification of unaffected new patients who may benefit from enzyme replacement therapy.
法布里病（FD）是一种进行性的、X连锁隐性遗传性鞘糖脂代谢紊乱疾病，由溶酶体α-半乳糖苷酶A（α-Gal A）活性缺乏或缺失引起。这可能与左心室（LV）壁厚度增加有关，且可能类似肥厚型心肌病的形态学特征。本研究的目的是确定FD的发生率与不明原因左心室肥厚（LVH）表现的比例。
我们前瞻性地收集了一组连续的190例经超声心动图诊断为不明原因LVH的患者。LVH诊断标准为左心室最大壁厚度为13mm或更厚。所有患者均检测了GLA基因突变。
大多数患者为男性（n = 119，63%），患者平均年龄为47.2±11.5岁。在190例诊断为LVH的患者中，我们鉴定出2例（1.05%）有记录的GLA基因突变，即[c.427G>A（p.A143T）（p.Ala143Thr）]和[c.937G>T（p.D313Y）（p.Asp313Tyr）]。经过家系筛查，在2个家庭中又鉴定出3例FD患者，包括5名正在接受酶替代治疗的个体。
我们鉴定出2例患有FD且伴有不明原因LVH的索引患者。因此，心脏病专家在遇到不明原因LVH的病例时应意识到FD。家系筛查对于早期识别可能从酶替代治疗中获益的未受影响的新患者至关重要。
