Hereditary amyloidosis is, in general, a systemic condition related to multiple organ system involvement by (β-structured protein deposits. As such, it often mimics the more common forms of systemic amyloidosis: immunoglobulin light chain (AL, primary) and reactive (AA, secondary). The challenge diagnostically is to recognize hereditary amyloidosis as a distinct entity and then to determine the specific type of genetic disease. There are several types of hereditary amyloidosis and precise diagnosis is essential for proper therapy and genetic counselling. This chapter strives to present the subject of hereditary amyloidosis in a way which facilitates understanding of the disease, of the means for diagnosis, of the present and possible future therapies, and of the importance of combined basic and medical research.
ASJC Scopus subject areas
- Orthopedics and Sports Medicine