Internal Medicine, Fundación Cardioinfantil-Instituto de Cardiología, Calle 163ª#13B-60, Bogotá, Colombia.
School of Medicine and Health Sciences, Universidad del Rosario, Bogotá, Colombia.
J Med Case Rep. 2023 Jul 30;17(1):325. doi: 10.1186/s13256-023-04040-7.
Antisynthetase syndrome is an inflammatory myopathy that is characterized by the presence of anti-aminoacyl-tRNA synthetase antibodies. Only 30% of those who suffer from the disease can be identified. We present three Hispanic cases of antisynthetase syndrome with unusual clinical pictures were extended myositis panel results enable disease diagnosis and treatment.
A 57-year-old Hispanic/Latino female with an erythematous scaly plaque, unresolved fever and non-immune haemolytic anaemia in whom inpatient work-up for fever of unknown origin was positive for anti-PL12 positive myositis extended panel. A 72-year-old Hispanic/Latino male with amyopathic weakness syndrome and mechanic hands in whom impatient work-up was relevant for proximal muscle uptake and anti-PM75 and AntiPL-12 myositis extended panel. And a 67-year-old Hispanic/Latino male with progressive interstitial lung disease and unresolved fever ended in myositis extended panel positive for antiPL-7. After systemic immunosuppressor treatment, patients had favourable clinical and paraclinical responses during outpatient follow-up.
The high variability of the antisynthetase syndrome in these cases demonstrates the importance of identification through an expanded panel and highlights the probability that this is a variable disease and that we need to include emerging molecular tests to promote the timely treatment of patients.
抗合成酶综合征是一种炎症性肌病，其特征是存在抗氨酰-tRNA 合成酶抗体。只有 30%的患者能够被识别。我们介绍了三例具有不典型临床表现的 Hispanic 抗合成酶综合征病例，扩展肌炎谱结果有助于明确诊断和治疗。
一名 57 岁 Hispanic/Latino 女性，表现为红斑鳞屑斑块、持续发热和非免疫性溶血性贫血，因不明原因发热住院检查，抗-PL12 阳性肌炎扩展谱阳性。一名 72 岁 Hispanic/Latino 男性，表现为肌病样无力综合征和机械手，住院检查与近端肌肉摄取和抗-PM75 和 AntiPL-12 肌炎扩展谱相关。一名 67 岁 Hispanic/Latino 男性，表现为进行性间质性肺病和持续发热，肌炎扩展谱抗-PL-7 阳性。在接受全身免疫抑制剂治疗后，患者在门诊随访期间获得了良好的临床和实验室反应。
这些病例中抗合成酶综合征的高度变异性表明通过扩展谱进行识别的重要性，并强调了这是一种可变疾病的可能性，我们需要包括新兴的分子检测，以促进患者的及时治疗。
