Nonfamilial prealbumin-type amyloid polyneuropathy

Area of Science:

• Neurology
• Genetics
• Pathology

Background:

• Amyloid polyneuropathy can present with severe motor, sensory, and autonomic dysfunction.
• Familial amyloid polyneuropathy (FAP) is a hereditary condition often associated with abnormal prealbumin levels.

Observation:

• A 53-year-old man exhibited symptoms consistent with FAP, including progressive polyneuropathy starting at age 48.
• Serum prealbumin levels were normal, and prealbumin DNA sequencing revealed no abnormalities.

Findings:

• The absence of specific biomarkers and genetic mutations excluded a diagnosis of FAP (Japanese type).
• Clinical presentation strongly suggested amyloidosis, but FAP was ruled out.

Implications:

• This case highlights the importance of differential diagnosis in polyneuropathy presentations.
• Systemic senile amyloidosis is considered a potential alternative diagnosis in such cases.
• Further investigation may be needed to identify the specific type of amyloidosis.