Serving the HCM Spectrum Disorder Community Since 1996


Amyloidosis is the general name of a group of more specific diseases characterized by the deposit of the misfolded protein amyloid. Amyloidosis is a multisystem disease because amyloid deposits can form in a variety of organs and cause symptoms for the afflicted organs. Amyloidosis is considered to be a bone marrow disease because amyloid is produced in the bone marrow. The specific causes of amyloidosis vary depending on the subtype. Cardiac amyloidosis (CA) can present with similar symptoms to hypertrophic cardiomyopathy because it causes a thickening of the cardiac muscle, but pathology differentiates the two.
Depending on the organs affected symptoms vary. General symptoms include but are not limited to, changes in skin color, fever fatigue, joint pain, low red blood cell count, shortness of breath, swelling of the tongue, muscle weakness, and sudden weight loss.  Symptoms related specifically to CA are congestive heart failure, progressive thickening of the heart muscle, shortness of breath, swelling of the legs or abdomen, and chest pressure or discomfort (angina). CA presents as a restrictive cardiomyopathy regardless of type. When cardiac muscle hypertrophy is present in patients with a thickened left ventricle and no family history of HCM endomyocardial biopsies are generally considered in order to test for the presence of amyloid.
Once amyloidosis is suspected a definitive diagnosis is needed as soon as possible. This is because median survival for patients with untreated amyloidosis is 13 months. In general Amyloidosis has a poor prognosis, but CA has the worst prognosis. CA is very rare but is well documented.
For amyloidosis treatment patients should see a specialized amyloidosis center along with specialized doctors for any of their afflicted organs. Treatment for amyloidosis should be taken immediately. Untreated the mortality rate is very high and moderately rapid. For further detail on treatment and diagnosis of specific type of amyloidosis unrelated to HCM simulating cardiac involvement please refer to the Amyloidosis Foundation
“Amyloidosis.” Mayo Clinic,
www.mayoclinic.org/diseases-conditions/amyloidosis/symptoms-causes/syc-20353178. Acessed May 3 2018.
"Updates in Cardiac Amyloidosis: A Review." Journal of the American Heart Associationhttp://jaha.ahajournals.org/content/1/2/e000364 N.p., n.d. Web. 3 May 2018.
"Cardiac Amyloidosis." Medscape. https://emedicine.medscape.com/article/1967220-overview#a6N.p., n.d. Web. 3 May 2018.