Ozdemir Zehra N, Ilhan Osman, Ozet Gulsum, Falay Mesude, Yenerel Mustafa, Tuglular Tulin, Turgut Mehmet, Guvenc Birol, Unal Ali, Ayyildiz Orhan, Andic Neslihan, Hacihanefioglu Abdullah, Sahin Fahri, Sencan Mehmet, Ali Ridvan, Ozsan Guner H, Yildirim Rahsan, Tiftik Eyup N, Tombak Anil, Salim Ozan, Kaya Emin, Akay Olga M, Okan Vahap, Pehlivan Mustafa, Saydam Guray
Clin Lab. 2020 Sep 1;66(9). doi: 10.7754/Clin.Lab.2020.191218.
Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired hematopoietic stem cell disease that may lead to weakness and death of patients, if unrecognized and untreated. Although consensus guidelines were reviewed recently for the diagnostic screening of PNH with multi-parameter flow cytometry (FCM), until now, no study has investigated the efficiency of such clinical indications in older patients.
Overall, 20 centers participated in the study and a total of 1,689 patients were included, 313 of whom were at geriatric age and 1,376 were aged 18 - 64 years. We evaluated the efficiency of consensus clinical indications for PNH testing using FCM in peripheral blood samples and compared the results of older patients and patients aged 18 - 64 years.
PNH clones were detected positive in 7/313 (2.2%) of the older patients. Five (74.4%) of the patients with PNH clones had aplastic anemia, 1 had unexplained cytopenia, and 1 patient had myelodysplastic syndrome (MDS) with refractory anemia. PNH clones were not detected in any older patients who were screened for unexplained thrombosis, Coombs (-) hemolytic anemia, hemoglobinuria, and others (e.g., elevated lactate dehydrogenase (LDH), splenomegaly). We detected PNH clones in 55/1376 (4%) samples of the patients aged under 65 years. Forty-two (76.4%) patients with PNH clones had aplastic anemia, 2 patients had Coombs (-) hemolytic anemia, 3 patients had unexplained cytopenia, 1 patient had MDS with refractory anemia, 1 patient had hemoglobinuria, and 6 (10.9%) had others (e.g., elevated LDH, splenomegaly). PNH clones were not detected in any patients who were screened for unexplained thrombosis. There was no statistical difference between the geriatric population and patients aged 18 - 64 years in terms of clinical indications for PNH screening with FCM (p = 0.49).
Our results showed that the current clinical indications for PNH screening with FCM were also efficient in older patients. We suggest that older patients with unexplained anemia, myelodysplastic syndrome with refractory anemia, and unexplained cytopenia should be screened for PNH with FCM to identify patients who would benefit from treatment.
阵发性睡眠性血红蛋白尿（PNH）是一种罕见的获得性造血干细胞疾病，如果未被识别和治疗，可能导致患者虚弱甚至死亡。尽管最近对多参数流式细胞术（FCM）诊断筛查PNH的共识指南进行了审查，但到目前为止，尚无研究调查这些临床指征在老年患者中的有效性。
共有20个中心参与了该研究，共纳入1689例患者，其中313例为老年患者，1376例年龄在18 - 64岁之间。我们评估了FCM检测外周血样本中PNH的共识临床指征的有效性，并比较了老年患者和18 - 64岁患者的结果。
在313例老年患者中，7例（2.2%）检测到PNH克隆呈阳性。5例（74.4%）PNH克隆阳性患者患有再生障碍性贫血，1例患有不明原因血细胞减少症，1例患者患有骨髓增生异常综合征（MDS）伴难治性贫血。在任何因不明原因血栓形成、Coombs（-）溶血性贫血、血红蛋白尿及其他情况（如乳酸脱氢酶（LDH）升高、脾肿大）而接受筛查的老年患者中均未检测到PNH克隆。在1376例65岁以下患者的55例（约4%）样本中检测到PNH克隆。42例（76.4%）PNH克隆阳性患者患有再生障碍性贫血，2例患有Coombs（-）溶血性贫血，3例患有不明原因血细胞减少症，1例患有MDS伴难治性贫血，1例患有血红蛋白尿，6例（10.9%）患有其他情况（如LDH升高、脾肿大）。在任何因不明原因血栓形成而接受筛查的患者中均未检测到PNH克隆。在FCM筛查PNH的临床指征方面，老年人群与18 - 64岁患者之间无统计学差异（p = 0.49）。
我们的数据显示，目前FCM筛查PNH的临床指征在老年患者中同样有效。我们建议，对于不明原因贫血、MDS伴难治性贫血及不明原因血细胞减少症的老年患者，应采用FCM筛查PNH，以确定可能从治疗中获益的患者。
