Anti-HMGCR myopathy: Diversity of clinical presentations in a national cohort in New Zealand

IF 4.6 2区 医学 Q1 RHEUMATOLOGY
Ke Li Chow , Paula Elizabeth Keating , Kamal Solanki , Mark Sapsford , Karen Lindsay , John Liston O'Donnell
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引用次数: 0

Abstract

Aims

We describe the varied clinical presentations, barriers in diagnosis and outcomes of anti-HMGCR myopathy in a large national cohort.

Methods

Adults found positive for serum anti-HMGCR autoantibodies via line blot or enzyme-immunoassay followed by immunoprecipitation were included in the study.

Results

Of 75 patients identified, the records of 72 (96 %) described weakness as the presenting symptom. The records of 65 gave a reliable description of proximal weakness. In 22/65 (33.8 %) the weakness was described as predominantly or solely lower limb weakness. Forty-five of 75 (60 %) presented with a subacute onset (duration of symptoms >4 weeks -≤6 months), whilst 22/75 (29.3 %) presented with a more indolent chronic onset (duration of symptoms >6 months). Eighteen of 75 (24 %) suffered falls and 2/75 (2.7 %) had “general decline”. In three patients no weakness was described: two presented with myalgia and one with a skin rash characterized as Jessner lymphocytic skin rash. Median creatine kinase at presentation was 7337 U/L (range 1050–25,500). Muscle biopsy was performed in 38 (50.7 %). Associated malignancy was infrequent. Four patients recovered without immunosuppression. Five-year and 10-year survival was 92.7 % (95 % CI 80.6–97.4 %), and 82.5 % (95 % CI 61.2–92.8 %) respectively.

Conclusion

Recurrent falls, a long prodrome and dominant lower limb proximal weakness were common in this anti-HMGCR myopathy cohort. These features overlap with frailty syndrome and sporadic inclusion body myositis emphasizing the importance of considering anti-HMGCR myopathy in that clinical context. A minority of patients recover after statin withdrawal alone.

Abstract Image

抗-HMGCR肌病:新西兰全国队列中临床表现的多样性
目的我们描述了一个大型全国队列中抗-HMGCR 肌病的各种临床表现、诊断障碍和治疗结果。方法通过线印迹法或酶免疫测定法以及免疫沉淀法检测血清中抗-HMGCR 自身抗体呈阳性的成人被纳入研究范围。结果在确定的 75 名患者中,72 人(96%)的病历中将乏力描述为主要症状。其中 65 人的病历可靠地描述了近端乏力。有 22/65 例患者(33.8%)的无力症状主要或仅有下肢无力。75 人中有 45 人(60%)表现为亚急性发病(症状持续时间为 4 周 -≤6 个月),而 75 人中有 22 人(29.3%)表现为慢性发病(症状持续时间为 6 个月)。75 人中有 18 人(24%)跌倒,2/75(2.7%)"全身衰退"。有三名患者没有任何虚弱症状:两名患者出现肌痛,一名患者出现皮疹,其特征为杰斯纳淋巴细胞皮疹。发病时肌酸激酶的中位数为 7337 U/L(1050-25500 U/L)。38例(50.7%)患者进行了肌肉活检。伴发恶性肿瘤的情况并不多见。四名患者在没有免疫抑制的情况下康复。5年和10年生存率分别为92.7% (95 % CI 80.6-97.4 %) 和82.5% (95 % CI 61.2-92.8 %)。这些特征与虚弱综合征和散发性包涵体肌炎重叠,强调了在临床背景下考虑抗-HMGCR肌病的重要性。少数患者仅在停用他汀类药物后即可痊愈。
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来源期刊
CiteScore
9.20
自引率
4.00%
发文量
176
审稿时长
46 days
期刊介绍: Seminars in Arthritis and Rheumatism provides access to the highest-quality clinical, therapeutic and translational research about arthritis, rheumatology and musculoskeletal disorders that affect the joints and connective tissue. Each bimonthly issue includes articles giving you the latest diagnostic criteria, consensus statements, systematic reviews and meta-analyses as well as clinical and translational research studies. Read this journal for the latest groundbreaking research and to gain insights from scientists and clinicians on the management and treatment of musculoskeletal and autoimmune rheumatologic diseases. The journal is of interest to rheumatologists, orthopedic surgeons, internal medicine physicians, immunologists and specialists in bone and mineral metabolism.
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