Our team approach is designed to effectively diagnose and treat this rare condition that can affect major organs such as the heart, kidneys and liver and help patients live their best life.
What is amyloidosis?
Amyloidosis is caused by an abnormal protein that accumulates in organs, like the heart, kidneys or liver. In the heart, for example, it stiffens the walls of the heart, making it much less efficient at pumping blood through the body.
Nearly all amyloidosis cases fall into two types – AL amyloidosis, also called primary amyloidosis, and transthyretin cardiac amyloidosis. There are two types of transthyretin cardiac amyloidosis – hereditary and wild type.
If left untreated, AL amyloidosis can be fatal in six months. Hereditary or familial amyloidosis can be fatal in 2.5 to 3.5 years on average.
It sometimes takes medical detective work to diagnose amyloidosis because symptoms can be the same as other conditions, such as carpal tunnel syndrome. Other red flags for possible amyloidosis include an irregular heartbeat, difficulty swallowing, shortness of breath, severe fatigue and swelling in the legs and ankles.
How is amyloidosis diagnosed?
If your doctor suspects amyloidosis, you will be closely followed through a variety of screening tests, including a technetium-99m pyrophosphate scintigraphy (PYP). The PYP scintigraphy for diagnosing TTR cardiac amyloidosis is imaging developed by Sabahat Bokhari, MD, of Lehigh Valley Heart and Vascular Institute.
Early treatment is important
Drugs can help manage the disease, but not reverse it. If detected early, patients can expect a normal quality of life and normal life span. Because it can involve multiple organs, it can be missed or underdiagnosed.