Loeb Josefine, Feldt-Rasmussen Ulla, Madsen Christoffer Valdorff, Vogel Asmus
Department of Medical Endocrinology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Danish Dementia Research Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
JIMD Rep. 2018;41:73-80. doi: 10.1007/8904_2018_103. Epub 2018 Apr 14.
Fabry disease is a rare progressive X-linked lysosomal storage disorder which leads to neuropathic pain, organ dysfunction and cerebral pathology. Few studies have investigated cognitive impairment in Fabry disease and these previous studies are difficult to compare due to heterogeneous methodological designs and small cohorts. The objective was to investigate the frequency of cognitive impairment in the Danish nationwide cohort of Fabry patients. Further, we examined if subjective cognitive complaints were associated with objective cognitive performances in this patient group. Neuropsychological tests (17 measures) and evaluation of subjective complaints with the Perceived Deficits Questionnaire (PDQ) were applied in 41 of 63 patients. According to an a priori definition, 12 patients (29.3%) were cognitively impaired. Tests tapping psychomotor speed, attention and executive functions had the highest frequency of impairment. In general, disease related variables as Mainz Severity Score Index, enzyme activity and years since onset and depression did not have a significant impact on the categorisation of patients as being cognitively impaired or non-impaired. Thus, cognitive impairment in Fabry disease does not seem to occur solely by having symptoms for many years or by having high disease burden. However, impaired neuropsychological test results were significantly more common in patients with cerebrovascular disease. Only three patients had scores in the abnormal range of the PDQ scale and subjective perceptions of cognition were not associated with cognitive performances. The levels of subjective cognitive complaints were generally very low in the studied patients demonstrating that the absence of subjective cognitive complaints does not exclude the presence of objective cognitive problems.
法布里病是一种罕见的进行性X连锁溶酶体贮积症，可导致神经性疼痛、器官功能障碍和脑部病变。很少有研究调查法布里病患者的认知障碍，由于方法设计的异质性和样本量小，这些先前的研究难以进行比较。本研究的目的是调查丹麦全国法布里病患者队列中认知障碍的发生率。此外，我们还研究了该患者群体中主观认知主诉与客观认知表现之间是否存在关联。对63例患者中的41例进行了神经心理学测试（17项指标），并用感知缺陷问卷（PDQ）对主观主诉进行评估。根据预先设定的定义，12例患者（29.3%）存在认知障碍。涉及精神运动速度、注意力和执行功能的测试受损频率最高。一般来说，疾病相关变量，如美因茨严重程度评分指数、酶活性、发病年限和抑郁，对患者认知障碍或无认知障碍的分类没有显著影响。因此，法布里病患者的认知障碍似乎并非仅仅由多年的症状或高疾病负担所致。然而，脑血管疾病患者神经心理学测试结果受损的情况明显更为常见。只有3例患者的PDQ量表得分在异常范围内，认知的主观感受与认知表现无关。在研究的患者中，主观认知主诉水平普遍很低，这表明没有主观认知主诉并不排除存在客观认知问题。
