Clinical History:
The patient has numerous complaints including weakness, myalgia, arthralgia, back pain radiating down bilateral legs, cramps and twitching, imbalance, speech disorder, difficulty walking, and numbness. His past medical history is remarkable for gout and he is taking both allopurinol and colchicine. His physical exam is remarkable for mild weakness of the tibialis and gastrognemius, decreased sensation in a stocking distribution and a foot-drop on gait testing. Electrophysiological testing reveals axonal sensorimotor neuropathy with some demyelinated features. Lab testing shows CK of 322, hemoglobin A1c of 5.5, and is negative for ANA, ANCA and MPO antibodies.
What is the underlying etiology based on the images below?
Answer:
Amyloidosis – The same as this case!
Electron microscopy reveals randomly oriented fibrils measuring 2-7 nm (70-120 Å).
Molecules: amyloid A, immunoglobulins and Ig light chains, Transthyretin (ATTR), Cystatin C, APOA1, gelsolin, fibrinogen, and lysozyme.
Requires specialized testing to identify molecules (immunohistochemistry, immunofluorescence, mass spectroscopy, etc.).
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