Examination of abdominal subcutaneous fat aspirates is a practical, sensitive and specific method for the diagnosis of systemic amyloidosis. Here we describe the development and implementation of a clinical assay using mass spectrometry-based proteomics to type amyloidosis in subcutaneous fat aspirates. First, we validated the assay comparing amyloid-positive (n=43) and -negative (n=26) subcuta...

Primary systemic amyloidosis (AL) is an uncommon disease characterized by the extracellular deposition of a protein with a beta-fibrillar structure, consisting of monoclonal immunoglobulin light chains, lambda or kappa (ratio of lambda to kappa, 3:1). In systemic amyloidosis liver involvement is frequent but it rarely has clinical importance. The massive and localized liver deposition of amyloi...

Light chain systemic amyloidosis is rare but may accompany laryngeal or pulmonary involvement, which may increase the risk in airway management. We present a case of a patient planned for resection of cervical epidural mass. The patient had face and neck ecchymoses and purpuras with an unknown cause. Mask ventilation and intubation were successful, but the operation was cancelled to evaluate bl...

Cardiovascular involvement of amyloidosis is present in 90% of cases, which is frequently associated with the primary form of the disease (AL amyloidosis). Clinical manifestations are represented by heart failure due to restrictive myocardiopathy and electrical impulse conduction abnormalities, which are clinically remarkable in up to 50% of the cases. The prognosis of patients with systemic am...

A case of facial primary nodular cutaneous amyloidosis is reported. This illustrates: the striking appearance of this unusual condition; the investigations appropriate to establish the diagnosis and to exclude underlying systemic amyloidosis or a condition which might contribute to amyloidosis; and the difficulty of successful management. Initial investigation failed to reveal any evidence of s...

Amyloidosis is a disorder of protein folding characterized by extracellular aggregation and deposition of amyloid protein fibrils. Light-chain amyloidosis, also known as primary systemic amyloidosis, is the most common form of the disease. We present a case of an 84-year-old male with a history of systemic primary amyloidosis causing genitourinary, cardiac, and autonomic dysfunction who present...

We report a patient with myeloma-associated systemic AL amyloidosis who showed chronic polyarthralgia as the main symptom. The clinical picture was similar to that of rheumatoid arthritis with regard to symmetrical swelling with tenderness in multiple joints, but inflammatory reactions were almost normal and autoantibodies were negative. He was diagnosed as having systemic AL amyloidosis based ...

Background Multi-organ disease with cardiac involvement carries a very poor prognosis in Systemic AL Amyloidosis. The risk of nephrogenic systemic fibrosis is a significant obstacle in assessing cardiac status using CMR in patients with systemic AL amyloidosis who have advanced renal failure. Measurement of myocardial T1 values has been limited until now, due to long breathhold times. We have d...

Amyloidosis is a disease related to abnormal protein folding and deposition of that abnormal protein between cells of the body in various tissues and organs, resulting in multiple clinical manifestations. We report a case of amyloidosis with atypical features, isolated to the mediastinum, in a 75-year-old male who presented with fatigue and shortness of breath. Amyloidosis that is isolated to t...

Respiratory involvement with amyloidosis typically involves the tracheobronchial tree or lung parenchyma. We describe a patient with systemic amyloidosis who was respirator-dependent because of extensive amyloid infiltration of the diaphragm, with no evidence of other pulmonary amyloidosis. Diaphragmatic myopathy from amyloid should be considered in respiratory failure in amyloidosis.