Case Presentation: 69-year-old-female with past medical history significant for Heart Failure with preserved ejection fraction (HFpEF), chronic lymphedema, and hypertension presented with 1 week of shortness of breath, melena and dysphagia. On admission, vital signs were notable for hypotension and physical examination revealed bibasilar rales and abdominal distension. Laboratory findings showed hyponatremia (129 mmol/L), elevated creatine (2.75 mg/dL) and leukocytosis (15.14 k/uL). Urinalysis was notable for 30 mg/dL of protein, numerous bacteria and WBC. Computed Tomography (CT) noted a distended stomach with gastric wall air, edematous peritoneum, and an emphysematous bladder. A nasogastric tube was placed for gastric decompression and IV fluids and antibiotics were initiated for acute kidney injury and sepsis secondary to suspected cystitis and gastritis. Urgent endoscopy showed ulceration of the gastric cardia and an esophageal ulcer, consistent with ischemia. Biopsy was notable for the presence of fungal spores consistent with Candida. A pleural effusion was also found, necessitating thoracentesis and chest tube placement. Patient was managed with extended course antibiotics and antifungals, bowel rest, IV pantoprazole, and IV fluids for urosepsis and ischemic gastritis attributed to resolved volvulus. Patient proceeded to have a protracted hospital course with complications including gastroparesis, necessitating placement of a PEGJ tube for feeds, and persistent AKI leading to hemodialysis. Serum protein electrophoresis revealed a gamma-migrating paraproteinemia, and light chain analysis revealed a reduced kappa/lambda ratio of 0.03. An abdominal fat pad biopsy was performed and positive for Congo red staining, confirming amyloidosis. Bone marrow biopsy revealed plasma cell neoplasm consistent with smoldering multiple myeloma. Further workup yielded a final diagnosis of amyloid light chain (AL) amyloidosis. The patient was started on an immuno-chemotherapy regimen of daratumumab with CyBorD (bortezomib-cyclophosphamide-dexamethasone). She was discharged, tolerating oral feeds, with resolved AKI after weeks of hemodialysis and plans for outpatient oncology follow-up.
Discussion: AL amyloidosis is a rare disorder caused by abnormal protein folding and deposition of immunoglobulin light chains produced by plasma cells. It typically presents as a multiorgan disease, primarily affecting the kidneys (70%), heart (60%), and liver (25%). Symptomatic gastrointestinal involvement occurs in approximately 8% of cases. Diagnosis is often challenging due to nonspecific symptoms, which are usually attributed to isolated organ dysfunction. A confirmatory biopsy—either of the affected organ or the abdominal fat pad—is typically performed after detecting an immunoglobulin abnormality during initial evaluation. In our patient, the diagnosis was delayed due to the multi-organ failure at her initial presentation and was ultimately made during the workup for AKI. The first line treatment for eligible patients is an autologous hematopoietic cell transplantation. For other patients, a bortezomib based regimen is used.
Conclusions: AL amyloidosis is a systemic disease that can manifest through diverse patterns of organ dysfunction. Persistent, unexplained, or atypical organ damage without a clear etiology should prompt consideration of systemic diseases like AL amyloidosis.