Diagnosing Amyloidosis

Time is of the essence when it comes to starting treatment for amyloidosis. However, diagnosing this disease early and properly remains a challenge.

Why is that?

 

Amyloidosis is often overlooked because the signs and symptoms can mimic those of more common diseases. This reality materially extends the time to diagnosis, which frequently spans years. All the while the disease is progressing in the body, doing damage. There is a shared view by some in the amyloidosis world that the actual incidence of this disease is far greater than reported, as there likely are patients that have died before the disease could be diagnosed.

Precise diagnosis is critical because treatment varies greatly, depending on the patient’s specific condition. Diagnosing as early as possible can help prevent further organ damage. In addition, the patient is often in a healthier state and can better tolerate a more aggressive treatment.

Diagnosing amyloidosis isn’t a single test, which is one big reason why it may be so elusive and time-consuming. First, the disease must be definitively confirmed, and second, it is critical to assess how and where it is affecting the body.

Laboratory tests are often the front line of identification but do not constitute a definitive diagnosis. Blood and urine may be analyzed for abnormal protein levels that may indicate amyloidosis. Depending on signs and symptoms, there may also be thyroid and liver function tests.

A biopsy, which can provide a positive identification of amyloid deposits in a piece of tissue, will definitively confirm the diagnosis. The biopsy may be taken from abdominal fat, bone marrow, or organs such as the liver or kidney where the disease is suspected. Tissue biopsies must be stained with Congo red, a dye which turns color if amyloid is present, causing it to have a unique appearance when viewed under a special microscope.

Imaging tests become important to identify and analyze organs affected by amyloidosis, helping to determine disease severity. For example, an echocardiogram may be used to assess the size and function of the heart. 

Only then, once the doctor confirms the diagnosis of amyloidosis and understands the extent of the disease, can a proper treatment regimen be developed.

In this video, Mackenzie Boedicker and Dr. Betsy Mencher (caregiver for her husband) share their experiences and discuss the importance of an early and accurate diagnosis of amyloidosis.

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Source: Boston University Amyloidosis Center, Mayo Clinic