(LifeWire) - An exceedingly rare condition, cardiac amyloidosis is diagnosed in just 3,000 people each year. Because of this, little attention is paid to it among an array of heart conditions affecting more than 80 million Americans. But cardiac amyloidosis is not to be ignored -- if untreated, it is always fatal.
Cardiac amyloidosis (CA), also known as "stiff heart syndrome," is characterized by abnormal protein deposits in the heart muscle called amyloids. Over time, these clumps multiply and can disrupt the heart's rhythm or make it work too hard, essentially "stiffening" it.
Amyloidosis can also occur in other organs; even with CA, it may also be in the liver or another vital area such as the bone marrow. It is considered "semi-malignant" because of the way its abnormalities multiply.
Swelling a Tell-Tale Symptom
Rarely occurring in those younger than 40 but more often in men than women, CA may present with a variety of symptoms that by themselves could signal many possible conditions. It may not even cause symptoms. However, a constellation of symptoms can occur in CA: shortness of breath during activity; heart palpitations; swelling of the legs or ankles; difficulty breathing when lying down; fatigue; and excessive night-time urination.
Upon examination, a patient may have enlarged neck veins, a swollen liver, abnormally low blood pressure that drops when the patient stands, or abnormal lung or heart sounds. A chest or abdominal CT scan is considered the gold standard of tests to test for cardiac amyloidosis, but other invasive and non-invasive tests are also used, including MRIs, nuclear heart scans, echocardiograms or cardiac catheterization. A biopsy of heart tissue is the only way to confirm a CA diagnosis.
Unfortunately, the prognosis for CA patients is poor -- less than 30% survive two years after diagnosis. However, a variety of treatments are being developed to attack CA, which is considered a chronic disease, and in the past few years scientists have found promising new approaches to therapy. Some CA patients receive heart transplants or combination heart-liver transplants, which are considered viable options if the disease is not elsewhere in the body and the patient is strong enough to tolerate such major surgery.
Coping Skills Important
Other treatments include chemotherapy; prednisone, an anti-inflammatory medication; or surgery to implant a cardiac pacemaker or internal defibrillator to regulate heart rhythm.
With such a challenging diagnosis -- as with many types of heart disease -- those with cardiac amyloidosis face emotional hurdles that doctors know can further stress their bodies and contribute to cardiac decline. Some hospitals offer counseling or classes to help heart patients and their families cope with their diagnosis and teach relaxation and coping skills.
The Amyloidosis Research Foundation, which serves patients with all forms of the condition, also offers support and keeps patients abreast of new clinical trials.
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Falk-Udo, Sack, Kristen Arnt, Hartmut Goldschmidt, Philipp A. Schnabel, Thomas Dengler, Achim Koch, and Matthias Karck. "Treatment Options for Severe Cardiac Amyloidosis." European Journal of Cardio-Thoracic Surgery 33(2008) 257-262. 17 Sep. 2008 <http://ejcts.ctsnetjournals.org/cgi/content/abstract/33/2/257>.
Selvanayagam, Joseph B., Philip N. Hawkins, Biju Paul, Saul G. Myerson, and Stefan Neubauer. "Evaluation and Management of the Cardiac Amyloidosis." Journal of the American College of Cardiology 50(2008) 2101-2110. 17 Sep. 2008 <http://content.onlinejacc.org/cgi/content/abstract/50/22/2101>.