What Is Familial Amyloid Cardiomyopathy?
Familial Amyloid Cardiomyopathy, which is also known by the name of Hereditary Amyloid Cardiomyopathy, is a pathological condition in which amyloid deposits result in cardiac conditions. It may even at times result in conditions like carpal tunnel syndrome. This condition is found mostly in the elderly population from the African region. Familial Amyloid Cardiomyopathy is usually misdiagnosed as a cardiac condition due to hypertension or other factors rather than amyloid deposits, as it is quite common in the elderly population. Previously, Familial Amyloid Cardiomyopathy was considered a rare entity, but with the ever advancing technology this disease is now far more common, especially in people from the African regions.
What Causes Familial Amyloid Cardiomyopathy?
The root cause of Familial Amyloid Cardiomyopathy is mutations in the TTR gene. Because of these mutations there is an alteration in the production of proteins. People with Familial Amyloid Cardiomyopathy produce abnormal TTR protein all through their lives, because of which TTRT amyloid deposits occur usually in the nerves of the heart. These deposits build up gradually over time, hence the damage sustained due to this condition is also fairly gradual, hence by the time the major symptoms of Familial Amyloid Cardiomyopathy start the person has already become elderly.
What Are The Symptoms of Familial Amyloid Cardiomyopathy?
The major symptoms of Familial Amyloid Cardiomyopathy usually are observed after the patient has crossed the age of 50. If the amyloid deposits in the heart are minimal then the condition may remain asymptomatic. It is only when there is a large amount of amyloid deposits then the symptoms are observed. Some of the symptoms observed due to Familial Amyloid Cardiomyopathy are:
- Dyspnea with or without activity
- Palpitations
- Swelling of the lower extremities
- Excessive fatigue
- Nausea
- Unintentional weight loss
- Dizziness
- Syncopal episode with strenuous activity
- Sleep disorder
- Chest pain
How Is Familial Amyloid Cardiomyopathy Diagnosed?
To diagnose Familial Amyloid Cardiomyopathy the following procedures might be done:
Blood Test: This will be done to look at cardiac markers, which will be elevated in cases of Familial Amyloid Cardiomyopathy.
Electrocardiogram: This test shows the heartbeat in the form of electrical impulses. This test can show whether there is any abnormality in the rhythm of the heart and whether the heart is functioning normally.
Echocardiogram: This test makes use of ultrasound waves to look at the functioning of the heart. This test can accurately identify any abnormality of the functioning of the heart.
CT/MRI Scan: This test will give three dimensional images of the heart and any abnormality present can be identified easily.
DPD Scan: This is by far the most confirmatory study to identify amyloid deposits in the heart, as the radioactive tracer specifically tracks down amyloid deposits and that can be seen on images confirming the diagnosis.
Heart Biopsy: This is also one of the best ways to confirm the diagnosis of Familial Amyloid Cardiomyopathy. A sample of the tissue of the heart muscle is taken and examined in laboratory setting to look for amyloid deposits.
Genetic Testing: This test can check for mutations in the TTR gene resulting in Familial Amyloid Cardiomyopathy.
How Is Familial Amyloid Cardiomyopathy Treated?
There is no clear cut treatment for Familial Amyloid Cardiomyopathy or to curtail amyloid deposits in the heart except supportive care. Some of the treatment measures taken are:
- Reducing supply of TTR protein
- Supporting organs that contain amyloid deposits
- As of now, the only available treatment for cutting down production of TTR protein is by liver transplantation, but this is not used for Familial Amyloid Cardiomyopathy.
- Novel medications are in the trial phase to reduce the supply of TT protein.
Apart from the above, following measures may be taken to control the symptoms of Familial Amyloid Cardiomyopathy:
Diet: Restricted salt diet and consumption of fluids up to 2 liters a day is recommended
Diuretics: These may be prescribed so that any excess salt or water is eliminated from the body. Some of the medications that come under this category are furosemide or spironolactone. These drugs also help in improving swelling of the lower extremities and shortness of breath.
Monitoring Weight: It is also helpful to check the weight almost on a daily basis to see if there is any weight loss or gain
Support Stockings: This will be given for control of ankle edema due to Familial Amyloid Cardiomyopathy
Apart from this, patients are advised to take the following medications with caution and only after consulting with a physician:
- Calcium channel blockers
- Digoxin
- ACE inhibitors
- Angiotensin receptor blockers
- Beta blockers.
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