Signs and Symptoms

Each patient has symptoms that depend on the type of amyloidosis and the organ systems involved. Many of these symptoms are general and can occur in other diseases.  It is because of this that a diagnosis is sometimes difficult.

In primary (AL) amyloidosis the organs most often involved include the heart, kidneys, nervous system, and gastrointestinal tract. Amyloid deposits in these organs can cause shortness of breath, fatigue, edema (swelling of ankles and legs), dizziness upon standing, a feeling of fullness in the stomach (especially after eating), diarrhea, weight loss, enlarged tongue, numbness of the legs and arms, and protein in the urine.

In secondary (AA) amyloidosis symptoms usually are those of the underlying chronic infection or inflammatory disease. Amyloid deposits often occur first in the kidney and may cause protein in the urine, edema, and fatigue.

In hereditary (ATTR) amyloidosis, the nervous system is often involved. This can cause numbness and tingling in the arms and legs, dizziness upon standing, and diarrhea. Some mutations and families develop heart disease (cardiomyopathy). Each family has its own pattern of organ involvement and associated symptoms. The mode of transmission is autosomal dominant, which means that it is passed directly from parent to child and only 1 copy of the gene is necessary to develop disease.  In this type of amyloidosis each child of a parent with an abnormal gene has a 50% chance of inheriting the abnormal gene.  If a child does not inherit the gene, he/she cannot pass it on to future generations.