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When to suspect amyloidosis

by Ian on Wed Jun 06, 2018 12:15 am

In a recent article about the diagnosis and treatment of light chain amyloidosis, there is some information that may be useful to people who come here with concerns that they may have multiple myeloma. The article is by Dr. Morie Gertz of the Mayo Clinic, and it notes the following:

"The diagnosis of AL amyloidosis should be considered by a cancer care provider in any patient seen with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepato­megaly, or diarrhea. This is much easier to list than it is to recognize in practice. Heart failure with preserved ejection fraction, one of the most common manifestations of AL amyloidosis, can be mis­diag­nosed because the echo­cardiogram has nonspecific findings. Wall thickening can be mis­interpreted as hypertension with hypertrophy or hypertrophic cardiomyopathy. Although cardiac magnetic resonance imaging with gadolinium can be quite specific, this test is often not ordered unless the diagnosis is suspected. A pseudo­infarction pattern seen on the EKG could be misinterpreted as true ischemic disease"

The article goes on to discuss peripheral neuropathy and symptoms that are very specific to amyloidosis, but also not so common:

"Patients with peripheral neuropathy and a monoclonal gammopathy are frequently mis­diag­nosed as CIDP (chronic inflammatory demyelinating polyneuropathy). These patients can undergo months of immunoglobulin infusions or plasma exchange before a diagnostic evaluation for AL amyloidosis is initiated. Monitoring for the physical signs of AL amyloidosis, such as tongue enlargement or periorbital purpura, is not adequate as these are found in only 15% of patients. Although these findings are highly specific for AL amyloidosis, they are very insensitive and their absence should never be used to exclude a diagnosis of AL amyloidosis."

Reference:

Gertz, M, "Immunoglobulin light chain amyloidosis diagnosis and treatment algorithm 2018," Blood Cancer Journal, 23 May 2018 (full text of article)

Ian

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