Significance of early diagnosis and treatment of adult late-onset Pompe disease on the effectiveness of enzyme replacement therapy in improving muscle strength and respiratory function: a case report.

IF 0.9 Q3 MEDICINE, GENERAL & INTERNAL Journal of Medical Case Reports Pub Date : 2024-10-08 DOI:10.1186/s13256-024-04837-0
Moein Mir, Kianmehr Rouhani, Kiana Rouhani, Mohammadjavad Hassani, Mohammadrafi Damirchi, Sajjad Yazdansetad, Mehrdad Aghaei
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Abstract

Background: Pompe disease, a rare autosomal recessive disorder, is caused by mutations in the acid α-glucosidase gene. Pompe disease is a congenital metabolic disorder that affects all organs, particularly the striated muscle and nerve cells. Diagnosis is typically confirmed through enzyme assays that reveal reduced acid α-glucosidase activity. Enzyme replacement therapy utilizing human α-glucosidase is an available treatment option. Timely diagnosis and treatment in the early stages of the disease significantly impact the effectiveness of enzyme replacement therapy in enhancing patient condition. Here, we present a case of a patient with Pompe disease diagnosed 20 years after the onset of clinical symptoms.

Case presentation: A 38-year-old Iranian Baloch woman referred to our rheumatology clinic with progressive muscle weakness presents with a complex medical history. On mechanical ventilation for 12 years, she has endured fatigue and limb weakness since the age of 16, exacerbated following an abortion at 19. Despite undergoing corticosteroid and azathioprine therapies, the suspected diagnosis of inflammatory myopathy did not yield improvement. Hospitalization at 23 due to respiratory failure post-pregnancy led to her continued reliance on a ventilator. A dried blood spot test indicated reduced GAA enzyme activity, confirming a diagnosis of Pompe disease through genetic testing. Treatment with myozyme for 2 years demonstrated limited efficacy, as the patient experienced improved breathing but no significant overall improvement in limb-girdle muscular weakness. This case underscores the challenges and complexities involved in diagnosing and managing rare neuromuscular disorders like Pompe disease.

Conclusion: Early intervention with enzyme replacement therapy plays a crucial role in halting further muscle loss and disease progression in Pompe disease patients. It is important to note that treatment during advanced stages of the disease may not yield substantial benefits. Nevertheless, enzyme instability and denaturation due to temperature and neutral pH levels, along with limited delivery to disease-relevant tissues, can pose challenges in treatment. However, timely diagnosis of Pompe disease is paramount for its effective management and improved outcomes.

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成人晚发型庞贝氏症的早期诊断和治疗对酶替代疗法改善肌力和呼吸功能效果的意义:病例报告。
背景:庞贝氏症是一种罕见的常染色体隐性遗传疾病,由酸 α-葡萄糖苷酶基因突变引起。庞贝氏症是一种先天性代谢性疾病,影响所有器官,尤其是横纹肌和神经细胞。诊断通常是通过酶测定发现酸 α-葡萄糖苷酶活性降低。利用人体α-葡萄糖苷酶进行酶替代治疗是一种可行的治疗方法。疾病早期的及时诊断和治疗对酶替代疗法改善患者病情的效果有很大影响。在此,我们介绍了一例庞贝病患者,她在出现临床症状 20 年后才被确诊:一名 38 岁的伊朗俾路支妇女因进行性肌无力转诊至我们的风湿病诊所,病史复杂。她使用机械通气 12 年,自 16 岁起就出现疲劳和四肢无力,19 岁堕胎后病情加重。尽管接受了皮质类固醇和硫唑嘌呤治疗,但疑似炎症性肌病的诊断结果并未好转。23 岁时,她在怀孕后因呼吸衰竭住院,因此一直依赖呼吸机。干血斑检测显示 GAA 酶活性降低,通过基因检测确诊为庞贝氏症。使用肌酶治疗 2 年的疗效有限,患者的呼吸有所改善,但四肢肌肉无力的总体情况没有明显改善。本病例强调了诊断和管理庞贝氏症等罕见神经肌肉疾病所面临的挑战和复杂性:结论:酶替代疗法的早期干预在阻止庞贝病患者肌肉进一步萎缩和疾病进展方面发挥着至关重要的作用。值得注意的是,疾病晚期的治疗可能不会产生实质性的益处。然而,温度和中性 pH 值导致的酶不稳定性和变性,以及向疾病相关组织的有限输送,都会给治疗带来挑战。不过,及时诊断庞贝氏症对于有效治疗和改善预后至关重要。
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来源期刊
Journal of Medical Case Reports
Journal of Medical Case Reports Medicine-Medicine (all)
CiteScore
1.50
自引率
0.00%
发文量
436
期刊介绍: JMCR is an open access, peer-reviewed online journal that will consider any original case report that expands the field of general medical knowledge. Reports should show one of the following: 1. Unreported or unusual side effects or adverse interactions involving medications 2. Unexpected or unusual presentations of a disease 3. New associations or variations in disease processes 4. Presentations, diagnoses and/or management of new and emerging diseases 5. An unexpected association between diseases or symptoms 6. An unexpected event in the course of observing or treating a patient 7. Findings that shed new light on the possible pathogenesis of a disease or an adverse effect
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