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Semin Neurol 2019; 39(05): 578-588
DOI: 10.1055/s-0039-1688994
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Neuropathy Associated with Systemic Amyloidosis

Michelle Kaku
1   Department of Neurology, Boston Medical Center, Boston, Massachusetts
2   Amyloidosis Center, Boston Medical Center, Boston University, Boston, Massachusetts
,
John L. Berk
2   Amyloidosis Center, Boston Medical Center, Boston University, Boston, Massachusetts
3   Department of Pulmonology, Boston Medical Center, Boston, Massachusetts
› Author Affiliations
Further Information

Publication History

Publication Date:
22 October 2019 (online)

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Abstract

Peripheral neuropathy occurs in the setting of both hereditary and acquired amyloidosis. The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the transthyretin (TTR) gene, which can lead to neuropathic hereditary transthyretin amyloidosis (hATTR; previously referred to as transthyretin familial amyloid polyneuropathy), whereas acquired immunoglobulin light chain (AL) amyloidosis is the most common acquired form. Patients typically present with a sensorimotor polyneuropathy, focal neuropathy such as carpal tunnel syndrome, or autonomic neuropathy. When neuropathy is the sole or dominant presenting symptom, the diagnosis is commonly delayed. With the advent of new drug therapies for AL amyloidosis and hATTR amyloidosis, including proteasome inhibitors, TTR silencers, and TTR protein stabilizers, the neurologist is uniquely positioned to diagnose neurologic manifestations of systemic amyloidosis, leading to earlier disease identification and treatment. This article reviews the epidemiology, clinical presentations, pathophysiology, diagnostic workup, and treatment of neuropathy in the setting of amyloidosis.

Keywords

hereditary neuropathy - transthyretin - AL amyloidosis - primary amyloidosis
 

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