Respiratory failure caused by amyloid myopathy

Nicolás, David; Castro, Pedro; Cibeira, M. Teresa; Nicolás, Jose María
doi:10.1016/j.medcle.2016.05.025
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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">We report the case of a 75-year-old patient diagnosed with multiple myeloma &#40;MM&#41; IgA-lambda stage <span class="elsevierStyleSmallCaps">II</span>-A&#44; with anaemia&#44; serum monoclonal component of 9&#46;5<span class="elsevierStyleHsp" style=""></span>g&#47;l and proteinuria&#46; Bortezomib and dexamethasone was administered&#44; obtaining a partial response&#46; A year later&#44; the patient presented with clinical features of intense asthenia and progressive weakness of all 4 limbs as well as dyspnoea at rest over a 2-month period&#46; Physical examination showed a baseline oxygen saturation of 89&#37;&#44; bibasal fine crackles and predominantly proximal flaccid tetraparesia &#40;3&#47;5 in upper limbs and 2&#47;5 in lower limbs&#41;&#46; No muscle pseudohypertrophy or macroglossia was observed&#46; Laboratory tests showed normal serum creatinine&#44; creatine kinase&#44; albumin&#44; sodium and potassium&#44; and elevated lactate dehydrogenase &#40;724<span class="elsevierStyleHsp" style=""></span>U&#47;l&#44; RN&#58; 250&#8211;450&#41;&#44; low total protein &#40;54<span class="elsevierStyleHsp" style=""></span>g&#47;l&#44; RN&#58; 63&#8211;80&#41; and mild anaemia &#40;Hb 10&#46;4<span class="elsevierStyleHsp" style=""></span>g&#47;dl&#41;&#46; Immunofixation showed an IgA-lambda monoclonal component of 10<span class="elsevierStyleHsp" style=""></span>g&#47;l and 24<span class="elsevierStyleHsp" style=""></span>h proteinuria in urine of 2118<span class="elsevierStyleHsp" style=""></span>h<span class="elsevierStyleHsp" style=""></span>mg&#47;l&#46; A bone marrow aspirate showed infiltration by plasma cells &#40;67&#37;&#41; with abnormal phenotype&#46; In the chest CT abnormal muscle density was found in both deltoid muscles&#44; and the echocardiography showed a concentric left ventricular hypertrophy&#46; Finally&#44; a bronchoscopy was performed&#44; during which the patient had a respiratory arrest requiring endotracheal intubation and mechanical ventilation&#44; being transferred to the intensive care unit &#40;ICU&#41;&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">On admission the patient presented with a discrete respiratory acidosis compensated in arterial blood gases &#40;FiO<span class="elsevierStyleInf">2</span> 0&#46;35&#44; pH 7&#46;40&#44; pCO<span class="elsevierStyleInf">2</span> 46&#46;8<span class="elsevierStyleHsp" style=""></span>mmHg&#44; pO<span class="elsevierStyleInf">2</span> 95&#46;5<span class="elsevierStyleHsp" style=""></span>mmHg&#44; standard bicarbonate 28&#46;9<span class="elsevierStyleHsp" style=""></span>mmol&#47;l&#41;&#44; with an examination after sedation similar to that performed at admission&#44; with proximal tetraparesia which did not seem to affect respiratory mechanics&#46; The patient was extubated after a successful spontaneous breathing test within the first 24<span class="elsevierStyleHsp" style=""></span>h&#46; However&#44; after 24<span class="elsevierStyleHsp" style=""></span>h&#44; the patient presented with a new hypoventilation episode&#44; with rapidly progressive hypercapnic respiratory failure&#44; reintubation being necessary&#46; Despite being well fixed to the ventilator and with minimum oxygen requirements&#44; it still required the gradual increase of support pressure to avoid hypercapnia&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">Congo red staining was performed in subcutaneous fat&#44; this being negative&#44; and a biopsy in the deltoid muscle&#44; in which a massive deposit of Congo red positive material was observed in muscle vessels&#44; perimysium and endomysium&#44; positive for light chain lambda by immunohistochemistry&#46; Light chain amyloid myopathy was then diagnosed&#44; with respiratory failure secondary to probable involvement of inspiratory muscles &#40;diaphragm and chest muscles&#41;&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">At 48<span class="elsevierStyleHsp" style=""></span>h&#44; the patient had an unrecoverable multiple organ failure and died 3 days after ICU admission&#46; The macroscopic post-mortem study highlighted an oedematous and shiny texture in the gastrointestinal tract&#44; lungs&#44; heart&#44; peripheral muscle&#44; diaphragm and vascular structures&#44; whose microscopic study showed massive deposits of positive Congo red material&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Light chain amyloidosis is a disease characterized by tissue deposition of monoclonal light chains produced by a clonal population of plasma cells&#46; Its prevalence in patients with MM is 15&#37;&#44; although some studies have shown that up to 38&#37; of patients with MM have asymptomatic amyloid deposits in one or another tissue&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> Its presentation and clinical features are very heterogeneous&#44; the most common symptoms being weight loss&#44; peripheral oedema and asthenia&#46; Periorbital bruising or macroglossia occur in less than 10&#8211;15&#37; of patients&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> The organs most often affected are the kidneys &#40;70&#37;&#41; and heart &#40;50&#37;&#41;&#44; followed by the liver&#44; peripheral and autonomic nervous system&#44; and gastrointestinal tract&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">3</span></a> In our case&#44; some data pointed to the possibility of a muscle disease&#44; including proximal weakness and deltoid signal alteration as observed on the CT scan&#46; Muscle involvement by amyloidosis is very rare&#44; and only 89 cases have been described in the literature to date&#46; The most common form of presentation was proximal weakness &#40;90&#37;&#41;&#44; with macroglossia&#44; pseudohypertrophy &#40;34&#37;&#41; and dysphagia &#40;22&#37;&#41; being less frequent&#46; The progression of all cases was poor with a median survival of 21&#46;7 months from diagnosis&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">4</span></a> Respiratory failure due to amyloid deposition in the diaphragm and inspiratory muscles has only been described in 3 other cases to date<a class="elsevierStyleCrossRefs" href="#bib0060"><span class="elsevierStyleSup">5&#8211;7</span></a> &#40;<a class="elsevierStyleCrossRef" href="#tbl0005">Table 1</a>&#41;&#46; At the time of diagnosis all manifested clinical features associated with amyloid myopathy&#44; as macroglossia&#44; proximal weakness or dysphagia&#44; and required mechanical ventilation&#44; confirmed by muscle biopsy&#46; The progression led to death in all cases&#44; with inability to withdraw mechanical ventilation and death during ICU hospitalization&#44; between 10 and 20 days after admission&#46;</p><elsevierMultimedia ident="tbl0005"></elsevierMultimedia><p id="par0030" class="elsevierStylePara elsevierViewall">Respiratory failure due to amyloid myopathy is a rare entity&#46; This disease should be suspected in patients with monoclonal gammopathy who have respiratory failure&#46; The classic findings&#44; e&#46;g&#46; macroglossia and pseudohypertrophy&#44; or positive subcutaneous fat biopsy&#44; may not be present at the time of diagnosis&#44; and in those cases muscle biopsy would be the most appropriate test for a definitive diagnosis&#46;</p></span>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0010">Please cite this article as&#58; Nicol&#225;s D&#44; Castro P&#44; Cibeira MT&#44; Nicol&#225;s JM&#46; Miopat&#237;a amiloidea como causa de insuficiencia respiratoria&#46; Med Clin &#40;Barc&#41;&#46; 2016&#59;146&#58;e25&#8211;e26&#46;</p>"
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          "leyenda" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">F&#58; female&#59; MM&#58; multiple myeloma&#59; NA&#58; not available&#59; M&#58; male&#59; MV&#58; mechanical ventilation&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Search made through PubMed in July 2014 in English and Spanish literature&#46;</p>"
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                  \t\t\t\t" class=""><thead title="thead"><tr title="table-row"><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Author&#44; reference and year&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Age &#40;years&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Sex&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">MM&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Presenting symptoms&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Organs with evidence of amyloid infiltration&nbsp;\t\t\t\t\t\t\n
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                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Progression&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th><th class="td" title="table-head  " align="left" valign="top" scope="col" style="border-bottom: 2px solid black">Survival<a class="elsevierStyleCrossRef" href="#tblfn0005"><span class="elsevierStyleSup">a</span></a> &#40;days&#41;&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</th></tr></thead><tbody title="tbody"><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Streeten et al&#46;&#44;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">5</span></a> 1986&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="char" valign="top">55&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">M&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">No&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Macroglossia&#44; proximal weakness&#44; cough&#44; arthralgia&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Diaphragm&#44; oesophagus&#44; rectum&#44; tongue&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Death&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">NA&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Santiago et al&#46;&#44;<a class="elsevierStyleCrossRef" href="#bib0070"><span class="elsevierStyleSup">7</span></a> 1987&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="char" valign="top">59&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Weakness&#44; dysphagia and dyspnoea&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Diaphragm&#44; skeletal muscles&#44; heart&#44; tongue&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Death&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">20&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Ashe et al&#46;&#44;<a class="elsevierStyleCrossRef" href="#bib0065"><span class="elsevierStyleSup">6</span></a> 1992&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="char" valign="top">73&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Weakness&#44; weight loss&#44; malaise&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Diaphragm&#44; intercostal muscles and psoas&#44; ileum&#44; jejunum&#44; heart&#44; tongue&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Death&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">10&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr><tr title="table-row"><td class="td-with-role" title="table-entry ; entry_with_role_rowhead " align="left" valign="top">Current case&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="char" valign="top">75&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">F&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Proximal weakness&#44; fatigue&#44; respiratory failure&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Diaphragm&#44; intercostal muscles&#44; gastrointestinal tract&#44; liver&#44; heart&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Yes&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">Death&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td><td class="td" title="table-entry  " align="left" valign="top">13&nbsp;\t\t\t\t\t\t\n
                  \t\t\t\t</td></tr></tbody></table>
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