Learn

In the absence of aortic stenosis or history of hypertension, the differential diagnosis of ventricular wall thickening included hypertrophic cardiomyopathy and infiltrative disorders such as Fabry disease and amyloidosis. Both Fabry disease and amyloidosis are associated with proteinuria and peripheral neuropathy, but cardiac apical sparing favours amyloidosis.

Friedreich ataxia is associated with hypertrophic cardiomyopathy and neuropathy, but heavy proteinuria is atypical. Given the nephrotic syndrome, absent myositis‐specific antibodies, and symptom progression on immunosuppression, we performed a kidney biopsy. Light microscopy indicated thickened glomerular basement membranes and mesangial expansion with eosinophilic material. Congo red stains were performed, along with immunofluorescence studies and electron microscopy, confirming a diagnosis of amyloidosis.

This MJA medical education shares more.

Learning Outcomes

1. Explain key components of the article
2. List main findings
3. Identify the symptoms for amyloidosis to determine correct patient management.

Details

Author: Laura Bywater, Anthea C Gist, Rahul G Muthalaly, Joanna Loh, Ian Simpson, Anthony J White and Andy KH Lim

Article Type: Medical Education