Rommel Oliver, Kley Rudolf A, Dekomien Gabriele, Epplen Jörg T, Vorgerd Matthias, Hasenbring Monika
Department of Neurology, Neuromuscular Center Ruhrgebiet, Kliniken Bergmannsheil, Ruhr-University, Bochum, Germany Department of Human Genetics, Ruhr-University, Bochum, Germany Department of Medical Psychology and Medical Sociology, Ruhr-University, Bochum, Germany Department of Neurology and Pain Therapy, Rommel-Klinik GMBH, Bad Wildbad, Germany.
Pain. 2006 Oct;124(3):295-304. doi: 10.1016/j.pain.2006.04.017. Epub 2006 Jun 21.
Pain characteristics were examined in 24 patients with myophosphorylase deficiency (McArdle's disease). Pain parameters were related to mutation analyses as well as psychosocial data using a pain questionnaire including an assessment of psychosocial distress and coping measures (Beck Depression Inventory BDI; Kiel Pain Inventory KPI, Multidimensional Fatique Inventory MFI). Twenty-three patients complained of pain, which was intermittent and exercise-induced in 15 patients. Eight patients complained of permanent pain, which was superimposed by exercise-induced pain in 7 patients. Patients reported 3-7 different pain characters and various localisations. Patients with permanent pain were significantly more frequently female, experienced higher impact on general activities and sleep as well as higher scores on the MFI. Furthermore, these patients revealed higher scores regarding several psychosocial risk factors including avoidance behavior whereas patients with intermittent pain predominantly showed endurance coping. There was no correlation between age or disease duration, pain intensity as well as mutation type and development of permanent or intermittent pain. In addition, severity of the clinical phenotype did not correlate with ACE polymorphism. Although McArdle's disease is a muscle glycogenosis with marked biochemical homogeneity, the clinical presentation can be quite heterogeneous. A substantial number of patients revealed permanent pain as a major clinical symptom. As permanent pain is not related to age or disease duration, it might be a clinically important subgroup of McArdle's disease. Gender-related genetic factors as well as maladaptive pain-related coping may contribute to the development of such a chronic pain symptom.
对24例肌磷酸化酶缺乏症（麦克尔迪氏病）患者的疼痛特征进行了检查。使用包括心理社会困扰评估和应对措施的疼痛问卷（贝克抑郁量表BDI；基尔疼痛量表KPI，多维疲劳量表MFI），将疼痛参数与突变分析以及心理社会数据相关联。23例患者主诉疼痛，其中15例为间歇性运动诱发疼痛。8例患者主诉持续性疼痛，其中7例叠加有运动诱发疼痛。患者报告有3 - 7种不同的疼痛特征和多种疼痛部位。持续性疼痛患者中女性明显更为常见，对日常活动和睡眠的影响更大，且在MFI上得分更高。此外，这些患者在包括回避行为在内的几个心理社会风险因素方面得分更高，而间歇性疼痛患者主要表现为耐力应对。年龄、病程、疼痛强度以及突变类型与持续性或间歇性疼痛的发生之间均无相关性。此外，临床表型的严重程度与ACE基因多态性无关。尽管麦克尔迪氏病是一种具有显著生化同质性的肌肉糖原贮积病，但其临床表现可能相当异质性。相当数量的患者表现出持续性疼痛作为主要临床症状。由于持续性疼痛与年龄或病程无关，它可能是麦克尔迪氏病一个临床上重要的亚组。性别相关的遗传因素以及与疼痛相关的适应不良应对可能导致这种慢性疼痛症状的发生。
