A rare mutation in the TTR gene was identified as the cause of familial amyloid polyneuropathy (FAP) in a family in China whose first symptom was diarrhea, according to a case report. All the affected family members eventually developed muscle weakness and some had numbness and/or deficient control of…
hATTR-PN
After a hiatus of three years, it is with a mix of emotions that I return to writing this column. Allow me to reintroduce myself: My name is Ezekiel Lim, and I continue writing to share once again the journey of caregiving for my mother-in-law, who has struggled with…
On Sunday, March 19, I appeared on New Zealand’s 1News to discuss my journey as a caregiver to my late husband, Aubrey, who had hereditary ATTR amyloidosis. I now face the reality that any of our four children could have the genetic mutation that causes the…
Amvuttra (vutrisiran) provided significant clinical benefits in multiple measures of quality of life and physical function in people with familial amyloid polyneuropathy (FAP), according to published details of the HELIOS-A clinical trial. Benefits, which also included early gains in nutritional status, were most pronounced in those in the…
A 63-year-old man in Japan with a large bulge in his right arm bicep, called “Popeye sign,” was diagnosed with late-onset familial amyloid polyneuropathy (FAP), according to a case report which suggests this sign has potential to diagnose the disease. The reason behind the symptom remains unclear in this…
AstraZeneca has added Latin America to the list of regions in which it has exclusive commercialization rights for eplontersen, an investigational therapy being reviewed for approval by the U.S. Food and Drug Administration (FDA) to treat familial amyloid polyneuropathy (FAP). Eplontersen’s original developer, Ionis…
This column has been a year in the making. When my late husband, Aubrey, passed away in May 2022 from hereditary ATTR amyloidosis, I couldn’t articulate my thoughts and feelings to paper or screen. Instead, my mind was filled with questions about how to move forward as a…
Scientists have developed a first patient-reported questionnaire on quality of life that’s specific to transthyretin amyloidosis (ATTR). Called the Transthyretin Amyloidosis – Quality of Life Questionnaire (ATTR-QOL), it was created with significant patient involvement and guidance from a multidisciplinary group of clinical specialists, led by scientists with the Amyloidosis…
Eplontersen continues to safely and effectively ease symptoms and improve quality of life for people with familial amyloid polyneuropathy (FAP) who have been on the treatment for more than 1.5 years in the Phase 3 NEURO-TTRansform clinical trial. That’s according to top-line, 85-week results announced by…
Advanced MRI imaging of the sciatic nerve — a large bundle of nerve fibers running from the lower back down the length of the leg — may help to distinguish familial amyloid polyneuropathy (FAP) patients from healthy people, a study found. Such scans also may work to identify presymptomatic…
Recent Posts
- A look at the emotional and psychological effects of diagnosis
- ATTR amyloidosis cases on the rise in the US as diagnostics improve
- Nerve ultrasound able to spot silent damage in hATTR, study finds
- Heart rhythm problems common in adults with FAP-causing mutation
- The emotional burden of receiving negative genetic test results