Blazing the Trail for Amyloidosis in Brazil

Guilherme José Jucá Calheiros carried the Olympic torch in Maceio (AL) Brazil. Guilherme is diagnosed with ATTR Familial Amyloidosis (FAP), which is a rare autosomal dominant amyloidosis disease caused by the deposition of abnormal transthyretin that results from a gene mutation.  TTR-FAP was initially described in 1952 in Póvoa de Varzim, Portugal and has subsequently been reported in Sweden, Japan and Brazil, among other countries.


Known in Brazil as the “disease of Pezinhos,” ATTR familial amyloid polyneuropathy, also called FAP transthyretin-related hereditary amyloidosis or ATTR FAP, is a life-threatening disease and affects up to 5000 people in Brazil according to the Brazilian Association of Familial Amyloidotic Polyneuropathy (ABPAR).

 

Guilherme, an avid athlete in water sports, had a liver transplant to help combat the disease a decade ago. He comes from a family in which his grandfather, aunt, parents, and sister have also been affected. Through his personal determination and dedicated physical activity, he has managed to overcome significant barriers, both personally and professionally. Guilherme’s commitments have earned him the coveted honor and privilege, awarded to only 110 participants, of carrying the Olympic torch of the Rio de Janeiro Day Games on May 29th, in Maceio, AL, Brazil. 

ARC

Amyloidosis Research Consortium, 275 Grove Street, Newton, MA, 02466