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Category:

Neuropathies

Number of Conditions: 1

Amyloidosis-Related Neuropathy

Specialty: Neurology

Symptoms:
numbness; tingling in extremities; orthostatic hypotension; gastrointestinal symptoms; carpal tunnel syndrome

Root Cause:
Deposition of misfolded amyloid proteins in nerves, impairing their function; often associated with familial or systemic amyloidosis.

How it's Diagnosed: videos
Biopsy of affected tissue (nerve or organ), genetic testing for familial amyloidosis, and serum/urine tests for amyloid precursors.

Treatment:
Treating the underlying amyloidosis with chemotherapy or targeted therapies, managing symptoms, and supportive care.

Medications:
Tafamidis (a stabilizer for transthyretin amyloidosis), patisiran (RNA interference for hereditary amyloidosis), and bortezomib (a proteasome inhibitor used in systemic amyloidosis).

Prevalence: How common the health condition is within a specific population.
Rare; varies depending on type, with transthyretin amyloidosis affecting approximately 50,000 people worldwide.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, mutations in transthyretin (TTR) gene, and age.

Prognosis: The expected outcome or course of the condition over time.
Progressive but manageable with early intervention; untreated cases have a poor prognosis.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Organ failure, severe neuropathy, and mobility loss.