Bezdjian Aren, Bruijnzeel Hanneke, Pagel Julia, Daniel Sam J, Thomeer Hans G X M
1 McGill Auditory Sciences Laboratory, McGill University Health Centre Research Institute, Montreal, Quebec, Canada.
2 Department of Experimental Surgery, McGill University, Montreal, Quebec, Canada.
Ann Otol Rhinol Laryngol. 2018 Jun;127(6):409-413. doi: 10.1177/0003489418771714.
Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease affecting the cytotoxic pathway. Due to the recent advances in molecular diagnosis, immuno-chemo therapy, and hematopoietic stem cell transplantation treatment, FHL survival rates have drastically increased.
Herein, we describe a case of FHL type 5 presenting with low-frequency sensorineural hearing loss. Alongside our reported case, 6 additional patients were identified in the literature. Management and Outcome: The progressive nature of FHL disorder may cause bilateral, low-frequency, irreversible sensorineural hearing loss. This type of hearing loss should be considered among the long-term sequelea presenting with FHL5.
We recommend audiological evaluation at initial FHL5 diagnosis to assess for hearing functions. Follow-up in audiology should be part of the long-term monitoring of patients with FHL5 as hearing loss could develop long after diagnosis.
家族性噬血细胞性淋巴组织细胞增生症（FHL）是一种影响细胞毒性途径的常染色体隐性疾病。由于分子诊断、免疫化疗和造血干细胞移植治疗方面的最新进展，FHL的生存率已大幅提高。
在此，我们描述一例5型FHL患者，其伴有低频感音神经性听力损失。除了我们报告的病例外，文献中还确定了另外6例患者。治疗与结果：FHL疾病的进展性可能导致双侧、低频、不可逆的感音神经性听力损失。这种听力损失应被视为FHL5的长期后遗症之一。
我们建议在初次诊断FHL5时进行听力学评估，以评估听力功能。由于听力损失可能在诊断后很长时间才出现，听力学随访应作为FHL5患者长期监测的一部分。
