Figure 32-1 Amyloid depositions (arrows) in endoneurium and vessel walls illustrated by Congo-red stain (top left) showing apple green birefringence under polarized light (top right), H&E stain (bottom left), methylviolet stain (bottom middle), and serum amyloid protein (SAP) immunostain.
CONCLUSION
TTR amyloidosis is a rare condition that frequently presents with progressive sensory, motor, and autonomic length-dependent peripheral neuropathy. Nerve biopsy and genetic testing aid in the diagnosis. With specific therapeutic options available for this fatal disease, awareness and early diagnosis have become more important, and a recently reported average time from presentation to diagnosis of 4 years in nonfamilial cases cannot be satisfactory.2
1. Andrade C. A peculiar form of peripheral neuropathy. Brain. 1952;75:408-427.
2. Plante-Bordeneuve V., Ferreira A., Lalu T., Zaros C., Lacroix C., Adams D., et al. Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP) [see comment]. Neurology. 2007;69(7):693-698.
3. Plante-Bordeneuve V., Lalu T., Misrahi M., Reilly M.M., Adams D., Lacroix C., et al. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 1998;51(3):708-714.
4. Holt I.J., Harding A.E., Middleton L., Chrysostomou G., Said G., King R.H., et al. Molecular genetics of amyloid neuropathy in Europe. Lancet. 1989;1(8637):524-526.
5. Kelly J.W., Colon W., Lai Z., Lashuel H.A., McCulloch J., McCutchen S.L., et al. Transthyretin quaternary and tertiary structural changes facilitate misassembly into amyloid. Adv Protein Chem. 1997;50:161-181.
6. Dyck P.J., Lambert E.H. Dissociated sensation in amyloidosis: Compound action potential, quantitative histologic and teased fiber, and electron microscopic studies of sural nerve biopsies. Arch Neurol. 1969;20:490-507.
7. Garcia-Herola A., Prieto M., Pascual S., Berenguer M., Lopez-Viedma B., Mir J., et al. Progression of cardiomyopathy and neuropathy after liver transplantation in a patient with familial amyloidotic polyneuropathy caused by tyrosine-77 transthyretin variant. Liver Transpl Surg. 1999;5(3):246-248.
8. Holmgren G., Ericzon B.G., Groth C.G., Steen L., Suhr O., Andersen O., et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet. 1993;341(8853):1113-1116.
9. Suhr O.B., Holmgren G., Steen L., Wikstrom L., Norden G., Friman S., et al. Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation. 1995;60(9):933-938.
10. Peterson S.A., Klabunde T., Lashuel H.A., Purkey H., Sacchettini J.C., Kelly J.W. Inhibiting transthyretin conformational changes that lead to amyloid fibril formation. Proc Natl Acad Sci USA. 1998;95(22):12956-12960.
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