Global Health Economics and Outcomes, 22 Boston Wharf Road, 9th Floor, Boston, MA, 02210, USA.
Partnership for Health Analytic Research, LLC, 280 S. Beverly Dr., Ste 404, Beverly Hills, CA, 90212, USA.
Orphanet J Rare Dis. 2021 Jan 11;16(1):25. doi: 10.1186/s13023-020-01623-1.
Despite emerging treatments for hereditary transthyretin (ATTRv) amyloidosis, the disease is often misdiagnosed, with reported diagnostic delays of up to several years. Knowledge of the patient journey leading up to diagnosis may help to promote earlier intervention. The study's objective was to examine patient clinical characteristics and healthcare utilization prior to ATTRv amyloidosis diagnosis.
Patients ≥ 18 years and newly diagnosed with ATTRv amyloidosis identified in IBM® MarketScan® Commercial and Medicare Supplemental data using a claims-based algorithm as follows: diagnosis required ≥ 1 medical claim with relevant amyloidosis diagnosis code (ICD-10-CM: E85.0-.4, E85.89, E85.9; excludes light chain and wild type) during identification (ID) period (1/1/2016-12/31/2017), and ≥ 1 occurrence of qualifying criteria during 2011-2017: ≥ 15 days diflunisal use without > 30-day gap, liver transplant, or claim with specific codes E85.1 or E85.2. The index date was defined as the date of first claim with amyloidosis diagnosis code in ID period. Patients had continuous enrollment ≥ 5 years pre-index date (look-back period). Occurrence of selected comorbid conditions and symptoms and healthcare utilization (testing, emergency department visits and hospitalization) measured during the look-back period; demographics, physician specialty, and Charlson comorbidity index (CCI) measured 1 year pre-index. Patients with an ICD-9/10 amyloidosis code during the look-back period were excluded. An ATTRv-free reference cohort was created from a random sample of enrollees who lacked any diagnosis of amyloidosis and matched 3:1 to ATTRv patients on age, gender, and region to provide reference values; same index and enrollment requirement as match.
For the 141 qualifying patients with ATTRv and 423 matched controls, mean (standard deviation) age was 62.5 (14.2) years and 53.9% were female. Mean CCI for ATTRv cohort was 2.7 (3.0) versus 1.1 (1.9) among controls. Selected comorbidities, testing, visits, and hospitalization were common among patients with ATTRv during the look-back period with higher rates versus controls.
Patients with ATTRv amyloidosis experience multiple neurological, cardiovascular, and other clinical manifestations, testing, and hospitalization prior to diagnosis. Occurrence of potential markers of illness is most common in the year before diagnosis.
尽管针对遗传性转甲状腺素蛋白（ATTRv）淀粉样变性症有新兴的治疗方法，但该疾病经常被误诊，据报道诊断延误长达数年。了解导致诊断的患者就诊过程可能有助于促进早期干预。本研究的目的是检查 ATTRv 淀粉样变性症诊断前的患者临床特征和医疗保健利用情况。
使用基于索赔的算法，从 IBM® MarketScan®商业和医疗保险补充数据中确定 ≥18 岁的新诊断为 ATTRv 淀粉样变性症的患者，如下所示：诊断需要在识别期（1/1/2016-12/31/2017 年）至少有 1 份与淀粉样变性症相关的诊断代码（ICD-10-CM：E85.0-.4、E85.89、E85.9；不包括轻链和野生型）的医疗索赔，并且在 2011-2017 年期间至少有 1 次符合以下条件的发生：≥15 天的非甾体抗炎药双氯芬酸使用，无 30 天以上的间隔，肝移植或有特定代码 E85.1 或 E85.2 的索赔。索引日期定义为识别期内首次出现淀粉样变性症诊断代码的日期。患者在索引日期前有连续 5 年以上的入组（回顾期）。在回顾期内测量选定的合并症和症状以及医疗保健利用情况（测试、急诊就诊和住院）；在索引日期前 1 年测量人口统计学数据、医生专业和 Charlson 合并症指数（CCI）。回顾期内有 ICD-9/10 淀粉样变性症代码的患者被排除在外。从缺乏任何淀粉样变性症诊断的随机抽样中创建了一个 ATTRv 无对照队列，并按年龄、性别和地区与 ATTRv 患者进行 3:1 匹配，以提供参考值；匹配的索引和入组要求相同。
在 141 名符合条件的 ATTRv 患者和 423 名匹配的对照者中，平均（标准差）年龄为 62.5（14.2）岁，53.9%为女性。ATTRv 队列的平均 CCI 为 2.7（3.0），而对照组为 1.1（1.9）。回顾期内，ATTRv 患者存在多种神经、心血管和其他临床表现、检查、就诊和住院治疗，其发生率高于对照组。
ATTRv 淀粉样变性症患者在诊断前经历多种神经、心血管和其他临床表现、检查和住院治疗。在诊断前一年，潜在疾病标志物的发生最为常见。
