一名50岁女性,严重静息缺氧,不适应高流量氧补充。

Q3 Medicine
European journal of case reports in internal medicine Pub Date : 2025-04-02 eCollection Date: 2025-01-01 DOI:10.12890/2025_005069
Razi Even-Dar, Reem Mhamid, Karawan Badarni, Evelyne Shabad, Yaron Bar-Lavi, Yaniv Dotan
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引用次数: 0

摘要

脉搏血氧仪是一种广泛应用的无创动脉血氧饱和度(SpO2)测量方法。然而,血红蛋白病,包括罕见的低氧亲和变异,如血红蛋白(Hb) Lansing,由于Hb氧解离曲线和光谱特性的改变,可能导致错误的低SpO2读数。认识到这些情况对于避免误诊和不必要的干预至关重要。病例描述:一名50岁女性,有慢性阻塞性肺疾病(COPD)、高血压和代偿性肝硬化病史,提出术前评估。在常规评估中发现持续缺氧(SpO2 84%),对补氧无反应。诊断调查排除肺或心脏分流,肝肺综合征和常见原因的甲基血红蛋白血症或羧血红蛋白血症。动脉血气分析使用co -血氧仪显示真实的血氧饱和度为90%,突出了与脉搏血氧仪的差异。Hb电泳显示血红蛋白部分异常,随后的基因检测发现了杂合突变(HBA1: c.264C . >G),证实了Hb Lansing。除了潜在的慢性阻塞性肺病引起的轻度劳累性呼吸困难外,患者无症状,并安全地接受了计划中的手术。讨论:Hb Lansing是一种罕见的血红蛋白病,其特征是低氧亲和力和高p50,导致SpO2读数错误低,对补充氧的反应最小。诊断依赖于一氧化碳氧饱和度,Hb电泳和基因分析。低亲和力血红蛋白病不需要特殊的治疗,通常有一个良性的临床过程。结论:不明原因缺氧的鉴别诊断应考虑血红蛋白病变。利用有针对性的诊断工具使临床医生能够确保准确的诊断和适当的管理。学习要点:在病情稳定的患者中,无法补充氧气的缺氧鉴别诊断主要包括右至左肺或心脏分流,或伴氧亲和力改变的血红蛋白病。临床医生应熟悉脉搏血氧仪不可靠的情况,包括组织灌注不良、某些指甲油类型和血红蛋白病变,并应获取动脉血气以进行准确评估。如果怀疑有血红蛋白病,建议使用多波长光谱仪进行动脉血气分析以进行准确评估。早期表现的血红蛋白电泳和突变分析将产生诊断和防止进一步的工作。低氧亲和性血红蛋白病的临床病程是轻微的,患者不应因为这种情况而拒绝必要的手术干预。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A 50-Year-Old Woman with Severe Resting Hypoxia not Amendable to High-Flow Oxygen Supplementation.

Introduction: Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO2). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO2 readings due to alterations in the Hb oxygen dissociation curve and spectral properties. Recognising these conditions is crucial to avoid misdiagnosis and unnecessary interventions.

Case description: A 50-year-old female with a history of chronic obstructive pulmonary disease (COPD), hypertension and compensated cirrhosis presented for pre-operative evaluation. Persistent hypoxia (SpO2 84%), unresponsive to oxygen supplementation, was noted during routine assessment. Diagnostic investigations excluded pulmonary or cardiac shunts, hepatopulmonary syndrome and common causes of methaemoglobinaemia or carboxyhaemoglobinemia. Arterial blood gas analysis using a CO-oximeter revealed a true oxygen saturation of 90%, highlighting a discrepancy with pulse oximetry. Hb electrophoresis demonstrated an abnormal haemoglobin fraction, and subsequent genetic testing identified a heterozygous mutation (HBA1: c.264C>G), confirming Hb Lansing. The patient was asymptomatic apart from mild exertional dyspnoea attributed to underlying COPD and safely underwent planned surgery.

Discussion: Hb Lansing is a rare haemoglobinopathy characterised by low oxygen affinity and high p50, leading to falsely low SpO2 readings and minimal response to supplemental oxygen. Diagnosis relies on CO-oximetry, Hb electrophoresis and genetic analysis. No specific treatment is required for low-affinity haemoglobinopathies, which generally have a benign clinical course.

Conclusion: Haemoglobinopathies should be considered in the differential diagnosis of unexplained hypoxia. Utilisation of targeted diagnostic tools enables clinicians to ensure accurate diagnosis and appropriate management.

Learning points: The differential diagnosis of hypoxia, non-amendable to supplemental oxygen in a stable patient mainly includes right to left pulmonary or cardiac shunt, or a haemoglobinopathy with altered oxygen affinity.Clinicians should be familiar with instances in which pulse oximetry is not reliable, including poor tissue perfusion, certain nail polish types and haemoglobinopathies, and should obtain arterial blood gas for accurate assessment.If haemoglobinopathy is suspected, it is advisable to perform arterial blood gas analysis using a multi-wavelength spectrometer for accurate assessment.Early performance of haemoglobin electrophoresis followed by mutational analysis will yield diagnosis and prevent further work-up.The clinical course of low-oxygen-affinity haemoglobinopathies is mild, and patients should not be denied necessary surgical interventions due to this condition.

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来源期刊
CiteScore
2.10
自引率
0.00%
发文量
166
审稿时长
8 weeks
期刊介绍: The European Journal of Case Reports in Internal Medicine is an official journal of the European Federation of Internal Medicine (EFIM), representing 35 national societies from 33 European countries. The Journal''s mission is to promote the best medical practice and innovation in the field of acute and general medicine. It also provides a forum for internal medicine doctors where they can share new approaches with the aim of improving diagnostic and clinical skills in this field. EJCRIM welcomes high-quality case reports describing unusual or complex cases that an internist may encounter in everyday practice. The cases should either demonstrate the appropriateness of a diagnostic/therapeutic approach, describe a new procedure or maneuver, or show unusual manifestations of a disease or unexpected reactions. The Journal only accepts and publishes those case reports whose learning points provide new insight and/or contribute to advancing medical knowledge both in terms of diagnostics and therapeutic approaches. Case reports of medical errors, therefore, are also welcome as long as they provide innovative measures on how to prevent them in the current practice (Instructive Errors). The Journal may also consider brief and reasoned reports on issues relevant to the practice of Internal Medicine, as well as Abstracts submitted to the scientific meetings of acknowledged medical societies.
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