Hereditary amyloidosis: Evidence against early amyloid deposition

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Abstract
Twelve members of the Indiana hereditary amyloidosis type II kindred were tested for the presence of amyloid deposits. All were young adults (age 26–37), with no evidence of disease and with 1 affected parent. Six were found to be carriers of the variant gene, by DNA testing and/or reduced serum retinol-binding protein levels. Nevertheless, no amyloid could be found in any skin, rectal, or carpal tunnel biopsy specimens. Our results suggest that hereditary amyloidosis type II is a true late-onset disease, in which accumulation of amyloid does not start until late in life—perhaps only a short time before symptoms appear.