{"title":"一名50岁女性,严重静息缺氧,不适应高流量氧补充。","authors":"Razi Even-Dar, Reem Mhamid, Karawan Badarni, Evelyne Shabad, Yaron Bar-Lavi, Yaniv Dotan","doi":"10.12890/2025_005069","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO<sub>2</sub>). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO<sub>2</sub> readings due to alterations in the Hb oxygen dissociation curve and spectral properties. Recognising these conditions is crucial to avoid misdiagnosis and unnecessary interventions.</p><p><strong>Case description: </strong>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 (SpO<sub>2</sub> 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.</p><p><strong>Discussion: </strong>Hb Lansing is a rare haemoglobinopathy characterised by low oxygen affinity and high p50, leading to falsely low SpO<sub>2</sub> 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.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Learning points: </strong>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.</p>","PeriodicalId":11908,"journal":{"name":"European journal of case reports in internal medicine","volume":"12 5","pages":"005069"},"PeriodicalIF":0.0000,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061221/pdf/","citationCount":"0","resultStr":"{\"title\":\"A 50-Year-Old Woman with Severe Resting Hypoxia not Amendable to High-Flow Oxygen Supplementation.\",\"authors\":\"Razi Even-Dar, Reem Mhamid, Karawan Badarni, Evelyne Shabad, Yaron Bar-Lavi, Yaniv Dotan\",\"doi\":\"10.12890/2025_005069\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Pulse oximetry is a widely used non-invasive method to measure arterial oxygen saturation (SpO<sub>2</sub>). However, haemoglobinopathies, including rare low-oxygen-affinity variants such as haemoglobin (Hb) Lansing can result in falsely low SpO<sub>2</sub> readings due to alterations in the Hb oxygen dissociation curve and spectral properties. Recognising these conditions is crucial to avoid misdiagnosis and unnecessary interventions.</p><p><strong>Case description: </strong>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 (SpO<sub>2</sub> 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.</p><p><strong>Discussion: </strong>Hb Lansing is a rare haemoglobinopathy characterised by low oxygen affinity and high p50, leading to falsely low SpO<sub>2</sub> 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.</p><p><strong>Conclusion: </strong>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.</p><p><strong>Learning points: </strong>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.</p>\",\"PeriodicalId\":11908,\"journal\":{\"name\":\"European journal of case reports in internal medicine\",\"volume\":\"12 5\",\"pages\":\"005069\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-04-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12061221/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of case reports in internal medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.12890/2025_005069\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of case reports in internal medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.12890/2025_005069","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
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.
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.