26257516 Visualization

A 62 Age - year Age - old Age male Sex presented Activity with a 15 Duration - day Duration history Duration of dyspnea Sign_symptom on exertion Detailed_description , associated with both Biological_structure lower Biological_structure extremity Biological_structure edema Sign_symptom .
Before this admission, he also had suffered from abdominal Biological_structure bloating History and tasteless History for Duration a Duration year Duration with noticeable body weight Sign_symptom loss Sign_symptom at the same time ( up Quantitative_concept to Quantitative_concept 20 Quantitative_concept kg Quantitative_concept ).
Over Duration the Duration past Duration 6 Duration months Duration , he developed a multiple Disease_disorder system Disease_disorder disorder Disease_disorder , which included painless Detailed_description paresthesias Sign_symptom in the lower Biological_structure limbs Biological_structure , erectile Disease_disorder dysfunction Disease_disorder , and chronic Detailed_description diarrhea Disease_disorder .
He had an average stool Diagnostic_procedure frequency Diagnostic_procedure of up Quantitative_concept to Quantitative_concept ten Quantitative_concept times Quantitative_concept per Quantitative_concept day Quantitative_concept , with no Lab_value obvious Lab_value blood Diagnostic_procedure or mucus Diagnostic_procedure and no abdominal Biological_structure pain Sign_symptom or tenesmus Sign_symptom .
Unfortunately, previous stomach Biological_structure and rectum Biological_structure biopsy Diagnostic_procedure did not examine for accumulations of amyloid Diagnostic_procedure fibril Diagnostic_procedure protein Diagnostic_procedure .
His family Family_history history Family_history was Family_history unremarkable Family_history .
On physical Diagnostic_procedure examination Diagnostic_procedure , his blood Diagnostic_procedure pressure Diagnostic_procedure was 82/56 Lab_value mmHg Lab_value and heart Diagnostic_procedure rate Diagnostic_procedure was 52 Lab_value bpm Lab_value .
Significant Severity jugular Biological_structure venous Biological_structure distention Sign_symptom , moderate Severity hepatomegaly Sign_symptom , and lower Biological_structure extremity Biological_structure edema Sign_symptom were noted.
A neurological Diagnostic_procedure examination Diagnostic_procedure revealed weakness Sign_symptom and muscular Biological_structure atrophy Sign_symptom in the bilateral Biological_structure tibialis Biological_structure anterior Biological_structure and gastrocnemius Biological_structure .
Hyporeflexia Sign_symptom was noted on both Biological_structure knees Biological_structure and ankles Biological_structure .
Sensory Diagnostic_procedure examination Diagnostic_procedure revealed diminished Lab_value tactile Diagnostic_procedure and Diagnostic_procedure pain Diagnostic_procedure sensation Diagnostic_procedure in a stocking Lab_value and Lab_value glove Lab_value pattern Lab_value and vibratory Diagnostic_procedure sensation Diagnostic_procedure was distally Lab_value reduced Lab_value in the lower Biological_structure limbs Biological_structure .
The motor Diagnostic_procedure and Diagnostic_procedure sensory Diagnostic_procedure functions Diagnostic_procedure of upper Biological_structure extremities Biological_structure were relatively Lab_value spared Lab_value .
Initial laboratory Diagnostic_procedure data Diagnostic_procedure that included full Diagnostic_procedure blood Diagnostic_procedure count Diagnostic_procedure , transaminase Diagnostic_procedure , creatinine Diagnostic_procedure , electrolytes Diagnostic_procedure , cardiac Diagnostic_procedure troponin Diagnostic_procedure , and thyroid Diagnostic_procedure function Diagnostic_procedure were normal Lab_value or negative Lab_value .
N Diagnostic_procedure - terminal Diagnostic_procedure fragment Diagnostic_procedure of Diagnostic_procedure pro Diagnostic_procedure - brain Diagnostic_procedure natriuretic Diagnostic_procedure peptide Diagnostic_procedure ( NT Diagnostic_procedure - proBNP Diagnostic_procedure ) was 3,996 Lab_value pg/mL.
Nerve Diagnostic_procedure conduction Diagnostic_procedure studies Diagnostic_procedure confirmed bilateral Detailed_description sensory Disease_disorder - motor Disease_disorder neuropathy Disease_disorder (Table 1).
An electromyography Diagnostic_procedure study Diagnostic_procedure demonstrated active denervation Sign_symptom and chronic reinnervation Sign_symptom changes Sign_symptom in the tibialis Biological_structure anterior Biological_structure and gastrocnemius Biological_structure .
Electrocardiogram Diagnostic_procedure ( ECG Diagnostic_procedure ) revealed sinus Lab_value rhythm Lab_value , low Lab_value voltages Lab_value in limb Diagnostic_procedure leads Diagnostic_procedure , QS Lab_value waves Lab_value in precordial Diagnostic_procedure and Diagnostic_procedure inferior Diagnostic_procedure leads Diagnostic_procedure , first Detailed_description - degree Detailed_description atrioventricular Sign_symptom block Sign_symptom , and prolonged Lab_value QTc Diagnostic_procedure (Figure 1).
Two Detailed_description - dimensional Detailed_description echocardiography Diagnostic_procedure revealed marked concentrically Detailed_description thickened Sign_symptom and speckled Sign_symptom appearance Sign_symptom of ventricular Biological_structure walls Biological_structure , biatrial Biological_structure dilatation Sign_symptom , and left Diagnostic_procedure ventricular Diagnostic_procedure ejection Diagnostic_procedure fraction Diagnostic_procedure of 70% Lab_value (Figure 2).
Doppler Diagnostic_procedure revealed a severe Severity restrictive Sign_symptom mitral Sign_symptom filling Sign_symptom pattern Sign_symptom with E/A Diagnostic_procedure ratio Diagnostic_procedure 2.1 Lab_value .
Coronary Diagnostic_procedure angiography Diagnostic_procedure findings were normal Lab_value .
The combined occurrence of low Lab_value QRS Diagnostic_procedure voltage Diagnostic_procedure in the ECG Diagnostic_procedure , ventricular Biological_structure thickening Sign_symptom , and signs of diastolic Sign_symptom dysfunction Sign_symptom is strongly suggestive of cardiac Biological_structure amyloidosis Disease_disorder .
The following serum Detailed_description λ Diagnostic_procedure light Diagnostic_procedure - chain Diagnostic_procedure concentration Diagnostic_procedure was 1,763 Lab_value (normal range: 598–1,329 mg/dL, and κ Diagnostic_procedure light Diagnostic_procedure - chain Diagnostic_procedure concentration Diagnostic_procedure was normal Lab_value .
Rectum Biological_structure biopsy Diagnostic_procedure confirmed amyloid Detailed_description infiltrate Sign_symptom (Figure 3).
So, the diagnosis of AL Disease_disorder amyloidosis Disease_disorder was established.
Despite chemotherapy Medication administration of melphalan Medication , dexamethasone Medication , immunomodulator Detailed_description lenalidomide Medication , and supportive Therapeutic_procedure therapy Therapeutic_procedure including montmorillonite Medication to decrease diarrhea Sign_symptom and low Dosage - dose Dosage furosemide Medication to alleviate fluid Sign_symptom retention Sign_symptom , the patient continued to deteriorate Sign_symptom and died Outcome at home Nonbiological_location after Date 3 Date months Date after the initial diagnosis.