Familial Amyloidosis: Recent Novel and Rare Mutations in a Clinical Population

The hereditary forms of systemic amyloidosis (AF) represent a diverse group of autosomal dominant diseases that occur much less frequently than immunoglobulin light chain amyloidosis (AL). Establishing a diagnosis of AF can be challenging when the phenotype is similar to that seen in some patients with AL and an accurate family history of disease is absent. This chapter details several new and unusual mutations associated with AF identified at our center since the IX International Symposium on Amyloidosis. Patients with AF comprise 10 percent of total amyloid clinic population. The majority of patients with AF had the TTR-associated type of familial amyloidosis. Cardiac dysfunction was often featured in the TTR-associated forms of AF, while renal involvement was common in the non-TTR types.