Margarida Maia, PhD, science writer —

The parameters of muscle ultrasound, which uses sound waves to make pictures of muscles, are significantly different among people with familial amyloid polyneuropathy (FAP), those not yet showing overt disease symptoms, and healthy people. That’s according to a small study in Malaysia that suggests this noninvasive imaging scan…

A study of people carrying mutations known to cause familial amyloid polyneuropathy (FAP) found that those with disease symptoms had significantly higher levels of neurofilament light chain (NfL) — a protein that’s a marker of nerve cell damage — in their blood than those who hadn’t shown symptoms, indicating…

Abnormalities in capillaries, or very small blood vessels, and inflammation from increased blood clotting may contribute to nerve damage, or neuropathy, in advanced familial amyloid polyneuropathy (FAP), according to finding that offer new insights into the mechanisms of peripheral nerves damage in FAP, offering potential targets for developing new…

Running a genetic screening may help to diagnose familial amyloid polyneuropathy (FAP) among people with sensory-motor polyneuropathy — damage to many nerves involved in sensations and motor skills — and at least two symptoms suggestive of FAP. That’s according to a study in Italy that identified FAP in 10%…

New 15-year data from a global study involving more than 6,000 people with ATTR amyloidosis, an umbrella term for conditions that include familial amyloid polyneuropathy (FAP), found that nearly 1 in 4 patients experience both neurological and cardiac symptoms, showing the need, according to researchers, for improved multidisciplinary…

A little more than a year of treatment with eplontersen was found to stabilize or even improve the heart’s structure and function in people with familial amyloid polyneuropathy (FAP) who also were experiencing symptoms of heart disease, known as cardiomyopathy. That’s according to an exploratory analysis of data…

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — can separate people with symptoms of forms of hereditary ATTR amyloidosis (hATTR), including familial amyloid polyneuropathy (FAP), from those who haven’t developed symptoms yet. That’s according to a study in Italy that also showed…

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…

Machine learning, a form of artificial intelligence, may help doctors to identify people suspected of familial amyloid polyneuropathy (FAP) and who should undergo a genetic test for the disease, a study in Italy suggested. Machine learning uses algorithms to analyze data, learn from its analyses, and make a prediction…

Tegsedi (inotersen) helped to stabilize familial amyloid polyneuropathy (FAP) symptoms in a 71-year-old man, but its use also was associated with a rare case of liver damage after one year of treatment. His liver enzymes, a marker of damage to the organ, rose well beyond the normal range, scientists reported.