Case report
Anaesthetic implications for Pompe disease. A case description
Implicaciones anestésicas en la enfermedad de Pompe. Descripción de un caso
M. Ruano Santiago
, E. Soto Garrucho, Y. González Marín, A.M. Pérez Muñoz, M. Echevarría Moreno
Corresponding author
Anestesiología, Reanimación y Terapéutica del Dolor, Hospital Universitario de Valme, Sevilla, Spain
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A case description" "tieneTextoCompleto" => true "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "112" "paginaFinal" => "115" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "M. Ruano Santiago, E. Soto Garrucho, Y. González Marín, A.M. Pérez Muñoz, M. Echevarría Moreno" "autores" => array:5 [ 0 => array:4 [ "nombre" => "M." "apellidos" => "Ruano Santiago" "email" => array:1 [ 0 => "mrsantiago93@gmail.com" ] "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 1 => array:2 [ "nombre" => "E." "apellidos" => "Soto Garrucho" ] 2 => array:2 [ "nombre" => "Y." "apellidos" => "González Marín" ] 3 => array:2 [ "nombre" => "A.M." "apellidos" => "Pérez Muñoz" ] 4 => array:2 [ "nombre" => "M." 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Descripción de un caso" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1000 "Ancho" => 750 "Tamanyo" => 134025 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">After neuromuscular relaxation and orotracheal intubation, marked retrognathia can be seen. Monitoring with BIS and dressing of the brachial plexus block.</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Pompe disease, or type II glycogenosis, is considered a rare, autosomal recessive metabolic myopathy,<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> with deficiency of the lysosomal enzyme acid alpha-glucosidase due to its cytopathology and glycogenosis according to the metabolic block produced, with an estimated incidence of all forms of 1/40,000 live births.<a class="elsevierStyleCrossRefs" href="#bib0010"><span class="elsevierStyleSup">2,3</span></a> Acid alpha-glucosidase or acid maltase is the enzyme responsible for degradation of glycogen polymers. Lysosomal and cytoplasmic accumulation results in disruption of the cytoarchitecture and function of affected cells and tissues (mainly skeletal, cardiac, and smooth muscle), leading to clinically progressive muscle weakness, the development of multisystem disease, and often early death.<a class="elsevierStyleCrossRef" href="#bib0020"><span class="elsevierStyleSup">4</span></a> Muscle involvement can extend to the respiratory muscles leading to diaphragmatic paralysis, alveolar hypoventilation and, in some cases, respiratory failure. Cardiac accumulation has also been documented with manifestations such as cardiac hypertrophy and heart rhythm disturbances.</p><p id="par0010" class="elsevierStylePara elsevierViewall">There are 2 classical forms: infantile- and late-onset disease. Patients with the classic infantile-onset form manifest a rapidly progressive disease characterised by hypertrophic cardiomyopathy, hepatomegaly, skeletal muscle weakness, significant hypotonia, and even death from cardiorespiratory failure during the first year of life. Patients with the late-onset form have a milder phenotype, typically consisting of proximal skeletal muscle weakness with slowly progressive myopathy, but rarely have cardiac involvement.<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a></p><p id="par0015" class="elsevierStylePara elsevierViewall">Published data on the anaesthetic management of Pompe disease are relatively scarce and consist primarily of case reports, guidelines, and protocols in patients with general myopathies or lysosomal diseases. The anaesthetic techniques described include both locoregional and general anaesthesia, highlighting the pathophysiological implications of the different drugs used, and their potential complications.</p><p id="par0020" class="elsevierStylePara elsevierViewall">This manuscript describes the case of a 47-year-old male, diagnosed with type II glycogenosis in its adult form, who underwent surgery for fracture of the proximal end of the left humerus.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical case</span><p id="par0025" class="elsevierStylePara elsevierViewall">The patient is a 47-year-old male with no known allergic reactions to medication. Ex-smoker. Personal history of late-onset Pompe disease; initial screening in 2019, in view of symptoms compatible with metabolic myopathy, performed at the Virgen del Rocío University Hospital by dried blood drop testing, which was pathological, and a confirmatory genetic study performed at the La Paz University Hospital, with a double pathological mutation in heterozygosis in the <span class="elsevierStyleItalic">GAA</span> gene [c.-32-13 T > G (IVS1-13 T > G) and c.236_246del (p.P79Rfs*13)]. He currently shows moderate restriction pattern in forced spirometry and paroxysmal atrial fibrillation without anticoagulation or structural heart disease observed on echocardiography. There is no evidence of aneurysms on CT angiography. On treatment with alglucosidase alfa (Myozyme®), bisoprolol, and low-dose acetylsalicylic acid.</p><p id="par0030" class="elsevierStylePara elsevierViewall">The patient was admitted to the emergency department for pain and functional impotence of the left upper limb after an accidental fall, and a fracture of the proximal end of the humerus was confirmed by conventional radiography. In the pre-anaesthetic assessment, the following predictive parameters for a difficult airway were observed: Mallampati score 4, limited mouth opening (4 cm), thyromental distance 6 cm, bite test 1, normal cervical extension, slight retrognathia, and prominent dentition. There was a slight overall decrease in vesicular murmur on cardiopulmonary auscultation, sinus bradycardia at 50–55 bpm on the electrocardiogram, and an unremarkable blood test.</p><p id="par0035" class="elsevierStylePara elsevierViewall">Given the patient’s clinical stability, it was decided to schedule operation of his fracture in the operating theatre, after observing the preoperative fasting period. On arrival, continuous monitoring was carried out with a 5-lead electrocardiogram, pulse oximeter, serial non-invasive blood pressure measurement, anaesthetic depth (BIS), and neuromuscular blockade with train-of-four. Cefazolin 2 g was used for antibiotic prophylaxis and ranitidine 50 mg for bronchoaspiration prophylaxis. Then, using an aseptic and ultrasound-guided technique, the brachial plexus block was performed at the interscalene level with an in-plane approach, administering ropivacaine 0.5% and mepivacaine 0.7% 15 ml, without incident. General anaesthesia was induced with a pre-oxygenation sequence, administering 100 μg, lidocaine 60 mg, propofol 120 mg, and rocuronium 40 mg, and orotracheal intubation was performed by direct laryngoscopy assisted with Eschmann guide (Cormack 3), with a 7.5 mm internal diameter ringed endotracheal tube (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1</a>). Mechanical ventilation was programmed in volume control mode on a General Electric Datex Ohmeda® machine with the following respiratory parameters: tidal volume 6 ml/kg, 14 rpm, inspiration: expiration ratio 1:2, positive end-expiratory pressure 6 cm H<span class="elsevierStyleInf">2</span>O, and fraction of inspired oxygen of .45. Anaesthesia maintenance was performed with remifentanil at doses between .02 and .05 μg/kg/min and continuously perfused propofol between 4 and 6 mg/kg/h for BIS values between 40 and 60. No further neuromuscular relaxant was administered during the surgical procedure. Antiemetic prophylaxis with dexamethasone 8 mg on induction and ondansetron 4 mg on emergence was decided in the presence of an Apfel score of 2. Fluid therapy comprised 1000 ml of lactated Ringer's lactate and 300 ml of .9% physiological saline. The procedure lasted 120 min. At the end, maintenance drugs were withdrawn, analgesic rescue was administered with metamizole 2 g and dexketoprofen 50 mg and residual neuromuscular blockade (train-of-four .7) was reversed with sugammadex 2 mg/kg, achieving a train-of-four >.9 ratio. The patient was extubated without incident and transferred to the post-anaesthesia recovery unit, haemodynamically stable, with good respiratory mechanics and optimal oxygen saturation.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0040" class="elsevierStylePara elsevierViewall">There were no incidents in the immediate postoperative period in the post-anaesthesia recovery unit or subsequently on the hospital ward.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Discussion</span><p id="par0045" class="elsevierStylePara elsevierViewall">The anaesthetic management of Pompe disease, a rare entity, is considered a challenge, as there are no generalised standards to follow, and it depends mainly on the age at clinical onset and associated comorbidities. As a consequence of the clinical manifestations presented, these patients may require multiple surgical interventions involving both cardiac and respiratory problems, although the major complications are those derived from potentially difficult management of the airway (short neck, temporomandibular stiffness, and macroglossia). This is where the anaesthesiologist should be involved with a thorough preoperative assessment.</p><p id="par0050" class="elsevierStylePara elsevierViewall">As mentioned above, the infantile-onset form may be accompanied by intellectual disability, cardiomegaly, and hepatomegaly, as well as progressive hypotonia with increased creatine kinase and accessory muscle involvement predisposing to recurrent pneumonias and respiratory failure, whereas adult-onset manifests in some cases with acute respiratory failure without evidence of the above.<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">5</span></a> Neither form has been associated with hypoglycaemia, unlike other glycogenoses.</p><p id="par0055" class="elsevierStylePara elsevierViewall">As the disease progresses, muscle weakness leads to low lung volumes, frequent unproductive coughing, blood gas disturbances, and sleep-disordered breathing, with associated risk of aspiration pneumonia.<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6,7</span></a> Approximately 60% of patients with late-onset Pompe disease have mild reduction in vital capacity (less than 80% of theoretical) and 30%–40% moderate reduction (<60%).<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">8</span></a> Diaphragmatic involvement may be an early finding and respiratory failure is often the first clinical manifestation of the disease. Due to underlying muscle weakness, patients with glycogenosis type II may be more sensitive to neuromuscular blockade.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> If postoperative respiratory failure develops due to muscle fatigue, non-invasive mechanical ventilation with pressure support may be required until recovery.</p><p id="par0060" class="elsevierStylePara elsevierViewall">In Pompe disease it is advisable to assess cardiovascular status. The most common cardiac problems include cardiomyopathies, heart failure, and arrhythmias, and there may be a component of cardiac dysfunction that contributes to respiratory failure from a haemodynamic point of view and the impact of cardiac size on lung capacity. Although there is usually no clinically identifiable heart disease in late-onset disease, there are no published data on systolic and diastolic function in this group of patients. Anaesthetic procedures are made more difficult by the hypertrophic cardiomyopathy sometimes found in these patients. This can lead to potentially fatal haemodynamic instability, as it causes myocardial ischaemia and cardiac output depletion, complicating the intra-anaesthetic period.<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> Cerebral aneurysms are a serious complication of this disease, with a higher incidence in adult-onset disease, and is the second cause of death after respiratory failure. Therefore, screening by imaging tests (angio-CT) is recommended.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">It is important to highlight that the pharmacological treatment used for anaesthetic management should be chosen with caution considering the existence of cardiovascular or generalised complications of the disease. Current recommendations state that benzodiazepines, opioids, intravenous or local anaesthetics, acetylcholinesterase inhibitors and non-depolarising muscle relaxants are safe and low-risk drugs for this disease. Cases of cardiorespiratory arrest and arrhythmias during anaesthetic induction have been reported in the literature (6%) related to the use of anaesthetic agents such as halothane, sevoflurane, and propofol at high doses, which warrants slow induction avoiding or decreasing the doses of these hypnotics if possible.<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a> Propofol, particularly at high doses, is not considered the ideal agent for maintenance anaesthesia due to the reduction in afterload and diastolic pressure, which predispose to the risk of myocardial ischaemia. However, it, along with inhalation agents and thiopental, may be used with caution in patients with less cardiac impact. Several studies recommend the use of ketamine and etomidate, avoiding succinylcholine because of its association with rhabdomyolysis and hyperkalaemia. Ketamine, as a drug, maintains systemic vascular resistance and contractility, and the associated reduction in preload is less likely. In this sense, the anaesthetic goals would encompass the maintenance of adequate preload and systemic vascular resistance to ensure effective coronary perfusion.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a></p><p id="par0070" class="elsevierStylePara elsevierViewall">The association between glycogenosis type II and malignant hyperthermia is only theoretical, as no cases have been reported in the literature.<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> Nevertheless, it is advisable to avoid drugs that could potentially trigger this disease and to have rapid access to dantrolene in the event it is needed.</p><p id="par0075" class="elsevierStylePara elsevierViewall">This patient underwent combined anaesthesia: ultrasound-guided interscalene brachial plexus block and total intravenous anaesthesia with propofol and remifentanil, after ruling out structural heart disease and associated cardiovascular manifestations by preoperative echocardiography. Rocuronium was chosen for neuromuscular relaxation, as it is not contraindicated, and its action can be rapidly reversed with sugammadex.</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflict of interests</span><p id="par0080" class="elsevierStylePara elsevierViewall">The authors have no conflict of interests to declare.</p></span></span>" "textoCompletoSecciones" => array:1 [ "secciones" => array:9 [ 0 => array:3 [ "identificador" => "xres1860769" "titulo" => "Abstract" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0005" ] ] ] 1 => array:2 [ "identificador" => "xpalclavsec1617466" "titulo" => "Keywords" ] 2 => array:3 [ "identificador" => "xres1860768" "titulo" => "Resumen" "secciones" => array:1 [ 0 => array:1 [ "identificador" => "abst0010" ] ] ] 3 => array:2 [ "identificador" => "xpalclavsec1617467" "titulo" => "Palabras clave" ] 4 => array:2 [ "identificador" => "sec0005" "titulo" => "Introduction" ] 5 => array:2 [ "identificador" => "sec0010" "titulo" => "Clinical case" ] 6 => array:2 [ "identificador" => "sec0015" "titulo" => "Discussion" ] 7 => array:2 [ "identificador" => "sec0020" "titulo" => "Conflict of interests" ] 8 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "fechaRecibido" => "2021-04-05" "fechaAceptado" => "2021-09-07" "PalabrasClave" => array:2 [ "en" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Keywords" "identificador" => "xpalclavsec1617466" "palabras" => array:7 [ 0 => "Pompe disease" 1 => "Type II glycogenosis" 2 => "Anaesthesia" 3 => "Myopathy" 4 => "Hypertrophic cardiomyopathy" 5 => "Difficult airway" 6 => "Malignant hyperthermia" ] ] ] "es" => array:1 [ 0 => array:4 [ "clase" => "keyword" "titulo" => "Palabras clave" "identificador" => "xpalclavsec1617467" "palabras" => array:7 [ 0 => "Enfermedad de Pompe" 1 => "Glucogenosis tipo II" 2 => "Anestesia" 3 => "Miopatía" 4 => "Miocardiopatía hipertrófica" 5 => "Vía aérea difícil" 6 => "Hipertermia maligna" ] ] ] ] "tieneResumen" => true "resumen" => array:2 [ "en" => array:2 [ "titulo" => "Abstract" "resumen" => "<span id="abst0005" class="elsevierStyleSection elsevierViewall"><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Pompe disease, or type II glycogenosis, is a rare metabolic myopathy inherited in an autosomal recessive pattern, characterized by progressive muscle weakness and multisystem involvement. The disease often results in premature death. Patients with Pompe disease are at high risk for anaesthesia-related complications, particularly cardiac and respiratory problems, although difficult airway management is the greatest complication. It is essential to perform a comprehensive preoperative study in order to reduce the risk of perioperative morbidity and mortality, and to obtain as much information as possible for the surgical procedure. In this article, we report the case of a patient with a history of adult Pompe disease who underwent combined anaesthesia for osteosynthesis of the proximal end of the left humerus.</p></span>" ] "es" => array:2 [ "titulo" => "Resumen" "resumen" => "<span id="abst0010" class="elsevierStyleSection elsevierViewall"><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">La enfermedad de Pompe o glucogenosis tipo II es una miopatía metabólica rara, de herencia autosómica recesiva, que se caracteriza por debilidad muscular progresiva y afectación multisistémica, acompañada, habitualmente, de muerte temprana. Los pacientes con esta enfermedad presentan alto riesgo anestésico en relación a problemas tanto de origen cardiaco como respiratorio, aunque las mayores complicaciones son las derivadas del manejo de la vía aérea, potencialmente dificultoso. Un buen estudio preoperatorio es fundamental para disminuir la morbimortalidad perioperatoria, optimizando y aportando la mayor información posible de cara a la intervención quirúrgica. En este artículo se expone el caso de un paciente con antecedentes de enfermedad de Pompe del adulto sometido a anestesia combinada para osteosíntesis de extremo proximal de húmero izquierdo.</p></span>" ] ] "multimedia" => array:1 [ 0 => array:8 [ "identificador" => "fig0005" "etiqueta" => "Figure 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 1000 "Ancho" => 750 "Tamanyo" => 134025 ] ] "detalles" => array:1 [ 0 => array:3 [ "identificador" => "at0005" "detalle" => "Figure " "rol" => "short" ] ] "descripcion" => array:1 [ "en" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">After neuromuscular relaxation and orotracheal intubation, marked retrognathia can be seen. Monitoring with BIS and dressing of the brachial plexus block.</p>" ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0005" "bibliografiaReferencia" => array:10 [ 0 => array:3 [ "identificador" => "bib0005" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Enfermedad de Pompe del adulto: reporte de un caso como diagnóstico diferencia de una miopatía inflamatoria" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "G.A. Lemus" 1 => "L.M. 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