Resources

Dr. Nativi-Nicolau and Dr. Elizabeth Mauricio discussed the decision pathway in management of ATTR amyloidosis from the cardiac and neurological standpoint.

Dr. Heather Landau discussed current treatment options for relapsed and refractory AL amyloidosis patients. Dr. Landau also talked about the current testing methodology used to monitor a patient’s disease status, and the role maintenance therapy may play in the management of relapsed AL amyloidosis.

Dr. Morie Gertz gave a 101 overview of clinical trials, including consideration in how they are designed, and the phases needed for drug development. Dr. Gertz also discussed current clinical trials that are evaluating the next generation of drugs for the treatment of AL and ATTR amyloidosis.

Rizio AA, White MK, D’Souza A, Hsu K, Schmitt P, Quock TP, Signorovitch J, Lousada I, Sanchorawala V. Health-Related Quality of Life Instruments for Clinical Trials in AL Amyloidosis: Report from the Amyloidosis Forum HRQOL Working Group. Patient Relat Outcome Meas. 2023 May 18;14:153-169. doi: 10.2147/PROM.S399658. PMID: 37229285; PMCID: PMC10202704.

This quick summary of common "red flag" amyloidosis symptoms and diagnostic algorithm can help understand the steps in a traditional path to diagnosis and amyloidosis type determination. This tool should not be used to replace proper medical guidance and diagnosis, but can be helpful for understanding your journey to diagnosis.

Cardiologist Dr. Ahmad Masri MD, MS and genetic counselor Emily Brown, MGC, CGC discuss the role of genetic testing in hereditary ATTR amyloidosis care, along with providing disease management recommendations for genetic carriers.

Sean, a patient with hereditary ATTR amyloidosis, describes his journey to diagnosis. Over an agonizing seven-year journey to diagnosis, Sean received bilateral carpal tunnel surgery, a hospital trip after a dire cardiac event, and saw multiple doctors fail to diagnose his amyloidosis. In his story, Sean shares the reason he is optimistic about the future and advice he has for others living with hereditary ATTR amyloidosis or still searching for a diagnosis.    

Ralph, a patient with Wild-Type ATTR amyloidosis, describes his journey to diagnosis. A commercial and technical diver, Ralph’s bilateral carpal tunnel was often attributed to his career. After multiple doctors misdiagnosed Ralph, one physician sent a tissue sample out for a biopsy, which led to Ralph’s amyloidosis diagnosis. From there, a journey of self-education, empowerment, and treatment have helped him take on amyloidosis and keep living, despite the challenges of this difficult disease.