FAP and Your Heart
If you have familial amyloid polyneuropathy (FAP), a progressive neurodegenerative disease, your doctor has probably talked to you about screening for problems with your heart.
About 80% of FAP patients have cardiac involvement. If left untreated, heart disease can have serious consequences for your health.
What causes heart problems in FAP?
Mutations in the TTR gene cause FAP. This means that the protein this gene encodes for has errors and is slightly “sticky.” These faulty proteins aggregate or clump together, forming amyloid bundles that interfere with cell and tissue function. The amyloids gradually accumulate in nerve cells and organs like the heart.
What cardiac symptoms are common in FAP?
As amyloids accumulate, heart muscle stiffens and has trouble pumping. Doctors call this cardiomyopathy. The first cardiac symptom patients may notice is arrhythmia, or an irregular heartbeat. Some people have this symptom for years before being diagnosed with FAP.
Patients may also experience symptoms like shortness of breath and severe fatigue. Some may have dizzy or fainting spells.
How do doctors keep cardiac problems in check?
FAP patients should undergo regular health screenings to monitor their heart health. There are a number of tests that doctors may use, depending on your location and the specific symptoms you are experiencing.
These tests can include echocardiography, which assesses the ability of the heart to pump blood, or electrocardiography (also called an ECG or EKG), which measures the electrical activity in the heart with each heartbeat.
Another test they may use to assess heart function is myocardial perfusion scintigraphy. This test involves injecting the patient with a radioactive tracer dye and tracking the flow of the dye through the heart to investigate blood flow and evidence of damage.
How do doctors treat heart problems in FAP?
To date, treatment options for FAP are limited to slowing disease progression and managing symptoms. Treatments for heart symptoms are also supportive rather than curative, and specific to each patient.
Last updated: Aug. 6, 2020
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