Rare Disease Report

The Effect of AL Amyloidosis

MAY 11, 2018
Heather Landau, M.D.

Heather Landau, M.D., Assistant Attending Physician at the Memorial Sloan Kettering Cancer Center, explains AL - or Light Chain - Amyloidosis. In this video, she describes in detail the clinical definition of the disease, what organs are affected, and early presentation.

Landau: Light chain amyloidosis is a plasm cell disorder that starts in the bone marrow. The culprit is a pathologic plasma cell that goes awry and makes abnormal proteins that mis-fold and deposit in organs, causing organ damage. The factory that makes the light-chains is a pathologic plasma cell. The issue is that once these light chains are produced they can deposit as a substance called amyloid and disrupt tissue structure and function mainly in the heart, GI tract, the liver, kidneys, soft tissues, and the nervous system. By and large the kidneys and the heart are the most commonly affected organs. Early presentation is different depending on which organ is affected.

The patients with kidney disease, if we pick them up early, are asymptomatic and they usually just get picked up by a routine urinalysis that is being done for something else. The problem with AL amyloidosis is It mimics common conditions, such as patients who feel unwell and short of breath and other non-specific symptoms, that are more representative of less rare disease than amyloidosis. So, when someone goes to their internist and says I’m tired and short of breath they look for cardiac disease in the way the general population has cardiac disease, like schemic cardiac disease or pulmonary disease. I’ve even seen patients have sinus surgery when they weren’t breathing well when this was all cardiac amyloid.

Most of the patients are suspected or have been diagnosed when they get to me. We did a survey with the amyloid research consortium and found over 400 patients have seen an average of four different doctors, the median number of specialists, before they get a diagnosis, often times going unrecognized. 

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