Illness caused by abnormal protein is among the most misdiagnosed in the U.S.
Sabahat Bokhari, MD, is a cardiologist treating a rare disease known as amyloidosis, which means he’s also part detective.
Bokhari heads up Lehigh Valley Health Network’s amyloidosis program, one of only a handful of such centers in Pennsylvania dedicated to the diagnosis and treatment of a condition that affects less than 250,000 people in the U.S., well under one-tenth of 1 percent of the population.
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.
Some notable Pennsylvanians were amyloidosis victims, including former Gov. Robert Casey Sr. and former Pittsburgh Mayor Richard Caliguiri.
It sometimes takes medical detective work to diagnose amyloidosis because symptoms can be the same as other conditions, like 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.
“If you catch the disease early, then patients can expect a normal quality of life and normal life span.” - Sabahat Bokhari, MD
Bokhari said the LVHN program, started in the fall of 2020 at Lehigh Valley Hospital (LVH)–Cedar Crest, currently treats about 200 patients. It succeeds based on a partnership with other fields at the health network, including hematology, neurology, and hand surgeons. “We have a whole team, so our goal is to spot this disease in patients before it affects major organs,” Bokhari says. “The goal is to start treatment as soon as possible.”
Nearly all amyloidosis cases fall into two types – AL amyloidosis, also called primary amyloidosis, and transthyretin cardiac amyloidosis. The latter is subdivided in two types, hereditary or wild type transthyretin (TTR) cardiac amyloidosis.
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, if untreated.
Patients are closely followed through a variety of screening tests, including a technetium-99m pyrophosphate scintigraphy (PYP). The PYP scintigraphy for diagnosing TTR cardiac amyloidosis was developed by Bokhari.
Bokhari in 2019 co-authored an article – “Screening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice” – in the Journal of the American College of Cardiology that notes red flags for doctors to use in diagnosing the disease in the heart.
Drugs can help manage the disease, but not reverse it. “If you catch the disease early, then patients can expect a normal quality of life and normal life span,” Bokhari says. “Because it involves multiple systems, it gets missed. I’m sure there are a lot more patients who’ve been underdiagnosed.”
