--- a +++ b/processing/MACCROBAT/26257516.txt @@ -0,0 +1,25 @@ +A 62-year-old male presented with a 15-day history of dyspnea on exertion, associated with both lower extremity edema. +Before this admission, he also had suffered from abdominal bloating and tasteless for a year with noticeable body weight loss at the same time (up to 20 kg). +Over the past 6 months, he developed a multiple system disorder, which included painless paresthesias in the lower limbs, erectile dysfunction, and chronic diarrhea. +He had an average stool frequency of up to ten times per day, with no obvious blood or mucus and no abdominal pain or tenesmus. +Unfortunately, previous stomach and rectum biopsy did not examine for accumulations of amyloid fibril protein. +His family history was unremarkable. +On physical examination, his blood pressure was 82/56 mmHg and heart rate was 52 bpm. +Significant jugular venous distention, moderate hepatomegaly, and lower extremity edema were noted. +A neurological examination revealed weakness and muscular atrophy in the bilateral tibialis anterior and gastrocnemius. +Hyporeflexia was noted on both knees and ankles. +Sensory examination revealed diminished tactile and pain sensation in a stocking and glove pattern and vibratory sensation was distally reduced in the lower limbs. +The motor and sensory functions of upper extremities were relatively spared. +Initial laboratory data that included full blood count, transaminase, creatinine, electrolytes, cardiac troponin, and thyroid function were normal or negative. +N-terminal fragment of pro-brain natriuretic peptide (NT-proBNP) was 3,996 pg/mL. +Nerve conduction studies confirmed bilateral sensory-motor neuropathy (Table 1). +An electromyography study demonstrated active denervation and chronic reinnervation changes in the tibialis anterior and gastrocnemius. +Electrocardiogram (ECG) revealed sinus rhythm, low voltages in limb leads, QS waves in precordial and inferior leads, first-degree atrioventricular block, and prolonged QTc (Figure 1). +Two-dimensional echocardiography revealed marked concentrically thickened and speckled appearance of ventricular walls, biatrial dilatation, and left ventricular ejection fraction of 70% (Figure 2). +Doppler revealed a severe restrictive mitral filling pattern with E/A ratio 2.1. +Coronary angiography findings were normal. +The combined occurrence of low QRS voltage in the ECG, ventricular thickening, and signs of diastolic dysfunction is strongly suggestive of cardiac amyloidosis. +The following serum λ light-chain concentration was 1,763 (normal range: 598–1,329 mg/dL, and κ light-chain concentration was normal. +Rectum biopsy confirmed amyloid infiltrate (Figure 3). +So, the diagnosis of AL amyloidosis was established. +Despite chemotherapy administration of melphalan, dexamethasone, immunomodulator lenalidomide, and supportive therapy including montmorillonite to decrease diarrhea and low-dose furosemide to alleviate fluid retention, the patient continued to deteriorate and died at home after 3 months after the initial diagnosis.