Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
Fabrizio SalviMario Mascalchi

Abstract

Oculomeningovascular amyloidosis is a variant of transthyretin (TTR) amyloidotic polyneuropathy, which is associated with blindness and brain ischemia, microhemorrages, and siderosis due to prominent production of the abnormal TTR in the eye and in the choroid plexuses. Tafamidis is a TTR stabilizer that is orally administered and, by interfering with amyloid fibril formation and deposition, is capable of slowing progression of TTR polyneuropathy and of early-stage cardiomyopathy. However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown. We observed failure of tafamidis to halt progression of oculomeningovascular amyloid deposition in a patient with familial Ala36Pro TTR amyloidosis. She received molecular diagnosis at age 24 and presented at age 26 with paresthesias of the lower limbs and bowel dysfunction. Echography showed minimal amyloid opacities in the corpus vitreum. Treatment with tafamidis meglumine was started. Sixteen months later, she complained of severe headache followed by left hemiparesthesias and numbness lasting 20 minutes. Magnetic resonance imaging showed multiple focal an...Continue Reading

Citations

Apr 24, 2020·The FEBS Journal·Francisca PinheiroSalvador Ventura
Jan 4, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Efthimios DardiotisTheodoros Kyriakides
Mar 26, 2019·Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis·Joel N Buxbaum
Apr 4, 2021·International Journal of Molecular Sciences·Bokyung KimJin Hae Kim

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