Differential Diagnosis for Amyloidosis
- Single most likely diagnosis
- AL (Primary) Amyloidosis: This is the most common form of amyloidosis, characterized by the deposition of light chain immunoglobulins in various tissues, often associated with multiple myeloma or other plasma cell dyscrasias. The presentation can vary widely, including renal failure, heart failure, neuropathy, and gastrointestinal symptoms, making it a broad differential consideration.
- Other Likely diagnoses
- AA (Secondary) Amyloidosis: This form is associated with chronic inflammatory diseases such as rheumatoid arthritis, chronic infections (e.g., tuberculosis), and familial Mediterranean fever. It involves the deposition of serum amyloid A protein and typically affects the kidneys, liver, and spleen.
- Hereditary Amyloidosis (e.g., Transthyretin Amyloidosis): Caused by mutations in the transthyretin (TTR) gene, leading to the deposition of abnormal TTR protein in tissues. It often presents with neuropathy and cardiomyopathy.
- Do Not Miss diagnoses
- Wild-Type Transthyretin Amyloidosis: A form of amyloidosis that occurs in older adults, primarily affecting the heart. It's crucial to distinguish from other forms of cardiomyopathy and can be missed due to its late onset and nonspecific symptoms.
- Amyloidosis associated with Aging: Senile systemic amyloidosis, which primarily affects the heart, can mimic other cardiac conditions and may be overlooked without specific diagnostic testing.
- Rare diagnoses
- Dialysis-Related Amyloidosis: Associated with long-term hemodialysis, characterized by the deposition of beta-2 microglobulin amyloid fibrils, primarily affecting bones and joints.
- Localized Amyloidosis: Involves the deposition of amyloid in specific organs or tissues without systemic involvement, such as the brain (in Alzheimer's disease), the lungs, or the skin.
- Other rare hereditary forms of amyloidosis, such as those caused by mutations in the apolipoprotein AI or apolipoprotein AII genes, which can present with a variety of systemic symptoms depending on the organs involved.