Departamento de Enfermería, Hospital Padre Meni, Universidad de Cantabria, Santander, Spain.
Facultad de Medicina, Universidad de Cantabria, Santander, Spain.
Front Endocrinol (Lausanne). 2022 Aug 11;13:965476. doi: 10.3389/fendo.2022.965476. eCollection 2022.
Low serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the gene. However, some patients do not carry variants and the cause of low alkaline phosphatase remains unknown. We aimed to determine health-related quality of life in adults with low alkaline phosphatase and explore the differences between patients with and without mutations.
We studied 35 adult patients with persistently low alkaline phosphatase unrelated to secondary acquired causes who had sequenced, and 35 controls of similar age. Three questionnaires about body pain (Brief Pain Inventory, BPI), physical disability (Health Assessment Questionnaire Disability Index, HAQ-DI), and health-related quality of life (36-item Short-Form Health Survey, SF-36) were delivered by telephone interviews.
The mean BPI intensity and interference scores were higher in the patient group (p=0.04 and 0.004, respectively). All domains of the HAQ instrument tended to score better in the control group, with significant differences in the "reach" score (p=0.037) and the overall mean score (0.23 vs 0.09; p=0.029). Patients scored worse than controls in several SF-36 dimensions (Role physical, p=0.039; Bodily pain p=0.046; Role emotional, p=0.025). Patients with and without pathogenic variants scored similarly across all tests, without between-group significant differences.
Patients with persistently low levels of alkaline phosphatase have significantly worse scores in body pain and other health-related quality of life dimensions, without differences between patients with and without pathogenic variants identified in gene. This is consistent with the latter ones carrying mutations in regulatory regions.
血清碱性磷酸酶水平低是低磷酸酶血症的特征，这种疾病是由于 基因的致病性变异引起的。然而，有些患者不携带 变异，碱性磷酸酶降低的原因仍不清楚。我们旨在确定低碱性磷酸酶血症成年患者的健康相关生活质量，并探讨有和无 基因突变患者之间的差异。
我们研究了 35 名与继发性获得性原因无关的持续低碱性磷酸酶血症的成年患者，这些患者均已进行了 基因测序，同时还纳入了 35 名年龄相似的对照者。通过电话访谈，向患者和对照者发放了 3 个关于身体疼痛（简短疼痛量表，BPI）、身体残疾（健康评估问卷残疾指数，HAQ-DI）和健康相关生活质量（36 项简明健康调查，SF-36）的问卷。
患者组的 BPI 强度和干扰评分均较高（p=0.04 和 0.004）。HAQ 量表的所有领域在对照组中的评分均较高，在“伸手”评分（p=0.037）和总平均分（0.23 比 0.09；p=0.029）方面存在显著差异。与对照组相比，患者在 SF-36 的几个维度上的评分较差（躯体功能，p=0.039；躯体疼痛，p=0.046；情感角色，p=0.025）。有和无致病性变异的患者在所有测试中的评分均相似，组间无显著差异。
持续低水平碱性磷酸酶的患者在身体疼痛和其他健康相关生活质量维度上的评分明显较差，但在 基因中有无致病性变异的患者之间无差异。这与后者携带的是调控区域的突变相一致。
