Our patient having no history of chronic inflammatory disease, secondary amyloidosis (deposition of serum amyloid A, an acute phase protein) was ruled out.
Serum protein electrophoresis was normal, as well as the level of immunoglobulin; bone marrow biopsy showed only a slight increase of plasmocyte number (5%).
These findings are typical for patients which develop AL amyloidosis (primary amyloidosis). A serum free light chains assay was performed, showing a marked increase of λ light chains, with a κ/λ ratio of 0.09, indicating the presence of a population of plasma cells producing clonal λ free light chains.
To complete the work-up for the extension of the disease, a lower limb electromiography was performed, which showed sensitive and motor polineuropathy.
More than 27 types of proteins that can form amyloid deposits have been identified, the most frequent being: immunoglobulin light chains (AL amyloidosis or Primary amyloidosis); familial amyloidosis (mutant transthyretin, lysozyme, fibrinogen, gelsolin); senile systemic amyloidosis (normal wild-type transthyretin); Beta2 – microglobulin amyloidosis (hemodialysis related) and secondary amyloidosis (serum amyloid A).
Martin Luther King Jr Essays - Heart Failure Case Study Powerpoint
It is a systemic disorder, but the organs most frequently involved are the kidneys, the heart, gastro-intestinal tract, liver, spleen and peripheral and autonomic nervous system1,2.
Cardiac amyloidosis is a myocardial disease resulting from the extracellular amyloid infiltration of the heart.
Amyloid deposits occur in the ventricles and atria, as well as perivascularly (particularly in the small vessels) and in the valves. The infiltrative process results in biventricular wall thickening with nondilated ventricles, and atrial dilation due to elevation of filling pressures.
Based on the clinical history and examination as well as the above investigations, the diagnosis was of congestive heart failure (functional class NYHA III) due to restrictive cardiomyopathy (CMR). Still frame from cine image in 4 chamber-view showing concentric LV hypertrophy, dilated left atrium and small pericardial effusion. Delayed sequences after gadolinium administration in short axis shows diffuse intramyocardial delayed enhancement.
The association between increased left ventricle wall thickness on ultrasound and low QRS voltage on ECG pointed towards a diagnosis of infiltrative cardiomyopathy, with a first line suspicion of cardiac amyloidosis beeing the most frequent cause of CMR. In order to obtain a histological confirmation of the disease, an abdominal fat aspirate was performed.