Department of Pathology, University of Virginia, Charlottesville, Virginia.
Department of Pathology, University of Virginia, Charlottesville, Virginia.
J Am Soc Cytopathol. 2020 May-Jun;9(3):173-176. doi: 10.1016/j.jasc.2020.01.003. Epub 2020 Feb 7.
Hereditary amyloidosis is a challenging but critical diagnosis, with serious implications with regard to treatment and disease surveillance for both patients and their families. Systemic symptomology is often vague. As vitreous amyloid deposition is strongly linked to the systemic, hereditary disease, its cytodiagnosis in the vitreous may be the incipient finding of hereditary amyloidosis. We describe a 64-year-old man with a history of heart disease and peripheral neuropathy who presented with asymmetric visual disturbances and vitreous opacities, leading to diagnostic vitrectomy. Amyloid was identified on a ThinPrep slide of the vitreous sample via Congo red stain. Creation of a cell block from the residual ThinPrep sample allowed for amyloid protein typing, identifying ATTR (transthyretin)-type amyloid and strongly suggesting hereditary amyloidosis. Subsequent sequencing of the patient's TTR gene identified a pathogenic variant that is associated with autosomal dominant hereditary transthyretin-mediated amyloidosis.
遗传性淀粉样变性是一种具有挑战性但至关重要的诊断，对于患者及其家属的治疗和疾病监测都有严重的影响。全身症状通常较为模糊。由于玻璃体内的淀粉样物质沉积与全身性遗传性疾病密切相关，因此玻璃体内的细胞诊断可能是遗传性淀粉样变性的初始发现。我们描述了一位 64 岁男性，患有心脏病和周围神经病，表现为不对称性视力障碍和玻璃体混浊，导致进行了诊断性玻璃体切除术。通过刚果红染色，在玻璃体样本的 ThinPrep 载玻片上发现了淀粉样蛋白。从剩余的 ThinPrep 样本中创建细胞块，可进行淀粉样蛋白蛋白分型，鉴定为 ATTR（转甲状腺素蛋白）型淀粉样变，并强烈提示遗传性淀粉样变性。随后对患者 TTR 基因进行测序，发现了一种与常染色体显性遗传性转甲状腺素蛋白介导的淀粉样变性相关的致病性变异。
