Causes and Diagnoses

Causes and Diagnoses of Amyloidosis

Amyloidosis, a complex disease unfamiliar to many physicians, requires a specialized evaluation to ensure that not only the correct diagnosis of amyloidosis is made, but also that the specific type is identified. Correct diagnosis is critical as treatments are specific to the type of amyloidosis identified.

Amyloidosis is definitively diagnosed with a biopsy test (tissue removed from the body and examined to identify the type and extent of disease). While biopsy remains a preferred procedure for diagnosis, there are several non-invasive tests (e.g., MRI of the heart; heart ultrasound (echocardiogram); or nuclear imaging of the heart) which can aid in diagnosis.

Due to the hereditary nature of some forms of amyloidosis, identifying relatives who may be at risk for the disease is an important consideration. The goal for at-risk relatives is early diagnosis before symptoms develop. At Northwestern Medicine, genetic counseling is available to family members to identify amyloid gene mutations and disease.