Systemic light chain amyloidosis is a rare and severe disorder characterized by amyloid fibril deposition in various tissues, often leading to organ failure. Early diagnosis is crucial but challenging due to diverse clinical manifestations. Our case report presents a complex case of systemic light chain amyloidosis in a 62-year-old patient with cardiac, renal, neurological, and gastrointestinal involvement. The patient\'s treatment with cyclophosphamide, bortezomib, dexamethasone, and intravenous daratumumab yielded significant improvement, aligning with recent studies. Following treatment, the patient improved from stage IV to stage II systemic light chain amyloidosis per the National Comprehensive Cancer Network (NCCN) guidelines, indicating a more favorable prognosis. Hence, the successful integration of daratumumab in our case underscores its potential as a valuable addition to the treatment regimen for advanced systemic light chain amyloidosis, showcasing significant improvements across multiple organ systems.

BACKGROUND: Immunoglobulin light chain (AL) amyloidosis presents a clinical spectrum characterized by diverse manifestations and involvement of multiple organs, posing a significant diagnostic challenge for physicians.
RESULTS: We present a case of a patient admitted to our hospital due to recurrent cough and sputum, which was initially diagnosed as refractory tuberculosis. Throughout his hospitalization, the patient experienced distressing symptoms, including uncontrollable chest tightness, hypotension, and fever. Noteworthy observations included a persistent elevation in cardiac biomarkers, indicative of cardiac damage. Bronchoalveolar lavage revealed the presence of various pathogenic microorganisms, while bone marrow flow cytometry demonstrated the existence of clonal plasma cells. Additionally, the urine free light chain assay detected the presence of M protein, and the positive congo red staining of the abdominal wall fat biopsy confirmed amyloid deposition in the tissues. Taking into account the patient\'s clinical presentation and the examination findings, we reached a conclusive diagnosis of immunoglobulin light chain (AL) amyloidosis.
CONCLUSIONS: This case serves as a reminder for physicians to consider rare diseases like AL amyloidosis when patients present with symptoms involving multiple organ systems such as heart, lung and kidney that are unresponsive to conventional treatment options.

We present the case of a 79-year-old man with rapidly progressive myopathy as the initial manifestation of light chain amyloidosis associated with multiple myeloma. The patient experienced progressive lower limb weakness resulting in difficulty climbing stairs. Ancillary tests revealed slightly elevated serum creatine kinase levels. The electromyogram revealed a diffuse myogenic pattern while muscle MRI indicated fatty replacement of the quadriceps muscles. Muscle biopsy revealed the presence of amyloid deposits in the vessel walls. An elevated level of lambda (246 mg/L) light chain was detected. The bone marrow aspiration results were consistent with the diagnosis of multiple myeloma. In conclusion, even if amyloid myopathy is a rare condition, routine screening for amyloid deposits in muscle biopsy is crucial and should be performed systematically. In the present case, it enabled a rapid diagnosis and the beginning of treatment.

Amyloidosis is a plasma cell dyscrasia that leads to the excessive production and deposition of mutant protein fragments in various organs. Cardiac amyloidosis is often implicated in two main subtypes: transthyretin (ATTR) and light chain (AL). While both subtypes increase the risk of restrictive cardiomyopathy, cardiogenic shock, and arrhythmias, poorer outcomes are seen in those with cardiac infiltration secondary to AL amyloidosis. Prognosis depends on the timing of diagnosis and the extent of the disease burden prior to recognition and treatment. The following case report describes a young patient who was admitted to the intensive care unit (ICU) for concerns of decompensated heart failure of unknown etiology, later determined to be due to amyloidosis. We describe her clinical course prior to and during hospital admission, along with the proposed physiologic factors that may have contributed to her poor outcome.

UNASSIGNED: Cardiac involvement in amyloid light-chain (AL) amyloidosis usually represents a brick in the wall of a multi-system disease. The presence of cardiac deposition of free light chains (FLCs) is the main determinant of survival. Isolated cardiac AL is an uncommon scenario characterized by a challenging diagnostic and therapeutic workup.
UNASSIGNED: A 57-year-old asymptomatic man was presented for an incidental finding of myocardial necrosis at the electrocardiogram (ECG) performed for newly diagnosed arterial hypertension. Alongside signs of previous myocardial infarction, transthoracic echocardiography showed a severely increased left ventricular (LV) wall thickness not consistent with ECG voltages, segmental akinaesia with normal LV systolic function with \'apical sparing\' pattern. Laboratory assessment showed an unexpectedly high level of natriuretic peptide and persistently abnormal troponin in the absence of symptoms or signs of heart failure or ongoing ischaemia. Coronary angiogram confirmed the coronary artery disease. Before revascularization, a complete diagnostic workup was carried. Serum electrophoresis detected a monoclonal gammopathy that was further investigated by serum immunofixation, revealing high lambda FLCs concentration. Fat pad, bone marrow, and salivary glands biopsies resulted negative for amyloid deposition. Finally, endomyocardial biopsy was consistent with AL amyloidosis. Urgent percutaneous revascularization was performed, and the patients was timely started on chemotherapy.
UNASSIGNED: The diagnosis of isolated cardiac AL amyloidosis is challenging and carries important therapeutic implications. As the short-term prognosis might be severely compromised, an accurate diagnostic flowchart has to be systematically pursued to obtain a precise diagnosis and address the optimal, tailored management.

BACKGROUND: Amyloidosis is a rare disease characterized by extracellular deposition of misfolded protein aggregated into insoluble fibrils. Gastrointestinal involvement in systemic amyloidosis is common, but is often subclinical or presents as vague and nonspecific symptoms. It is rare for gastrointestinal symptoms to be the main presenting symptom in patients with systemic amyloidosis, causing it to be undiagnosed until late-stage disease.
METHODS: A 53 year-old man with diarrhea, hematochezia, and weight loss presented to a community hospital. Colonoscopy with biopsy at that time was suspicious for Crohn disease. Due to worsening symptoms including nausea, vomiting, and a new petechial rash, an abdominal fat pad biopsy was done. The biopsy showed papillary and adnexal dermal amyloid deposition, in a pattern usually seen with cutaneous amyloidosis. However, Cytokeratin 5/6 was negative, excluding cutaneous amyloidosis. The patterns of nodular amyloidosis, subcutaneous amyloid deposits and perivascular amyloid were not seen. Periodic Acid-Schiff stain was negative for lipoid proteinosis, Congo red was positive for apple green birefringence on polarization and amyloid typing confirmed amyloid light chain amyloidosis. Repeat endoscopic biopsies of the gastrointestinal tract showed amyloid deposition from the esophagus to the rectum, in a pattern usually seen in serum amyloid A in the setting of chronic inflammatory diseases, including severe inflammatory bowel disease. Bone marrow biopsy showed kappa-restricted plasma cell neoplasm.
CONCLUSIONS: Described is an unusual presentation of primary systemic amyloidosis, highlighting the risk of misdiagnosis with subsequent significant organ dysfunction and high mortality.

UNASSIGNED: Amyloidosis is a systemic infiltrative disease that can affect nearly every organ in the human body. It is characterized by the deposition of misfolded protein within various tissues and organs. Once there is cardiac involvement this portends a worse prognosis.
UNASSIGNED: We describe a case series of two patients with cardiac amyloidosis presenting as a cardiogenic shock. There were several missed opportunities in diagnosing cardiac amyloid prior to their fatal presentations. In the first case, a 65-year-old African-American male patient presented with worsening shortness of breath and signs of heart failure. Echocardiography revealed preserved ejection fraction. He was diagnosed with light chain subtype of cardiac amyloidosis, and rapidly deteriorated during his admission. Patient in the second case is a 75-year-old African-American female who presented with worsening heart failure and hypotension. Echocardiography revealed reduced ejection fraction. She was diagnosed with transthyretin cardiac amyloid. Her clinical status worsened during admission and she went into cardiogenic shock requiring multiple vasopressors.
UNASSIGNED: This case series discusses two incidences of cardiac amyloidosis presenting as cardiogenic shock in African-American patients. This article postulates that cardiac amyloidosis may be misdiagnosed for more common causes of heart failure especially among this demographic group. Once patients with cardiac amyloid present with cardiogenic shock their clinical course is typically rapidly fatal despite aggressive measures. Earlier detection is imperative to prevent poor outcomes.