[Neurogenic autonomic dysfunction in primary amyliodosis].

Area of Science:

• Neurology
• Internal Medicine
• Rare Diseases

Background:

• Neurogenic autonomic dysfunction (NAD) and polyneuropathy are common in diabetes and alcoholism.
• These conditions can also manifest in rare systemic diseases.
• Amyloid light-chain amyloidosis (primary amyloidosis) is a rare cause of these neurological symptoms.

Observation:

• A 56-year-old man presented with polyneuropathy.
• He experienced sympathetic dysfunction (orthostatic intolerance, syncope) and parasympathetic dysfunction.
• Enteric nervous system involvement was also noted.

Findings:

• The case highlights that amyloidosis can present with NAD and polyneuropathy.
• Routine diagnostic screenings may not detect amyloidosis.
• A multidisciplinary approach is crucial for diagnosing rare diseases causing these symptoms.

Implications:

• This case underscores the importance of considering rare etiologies for unexplained NAD and polyneuropathy.
• It emphasizes the need for thorough investigation beyond common causes.
• Early and accurate diagnosis of amyloidosis is critical for patient management.