hATTR-PN

Every so often, my husband, Aubrey, and I go through this exercise where we evaluate our circumstances in life and decide if we should shake things up a bit. Since the pandemic‘s start, we both have been challenged, not only by its hampering our movement and autonomy, but also…

Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP), a study shows. These findings shed light on the underlying mechanisms of FAP and point to these small blood vesicles, known as extracellular…

The day arrived when COVID-19 stepped into our home via our youngest daughter. She found out that a university classmate who’d sat next to her had been infected with omicron. Fortunately, she is in a self-contained area of our home, so as long my husband and I don’t come into…

A highly sensitive tool has been developed to help identify patients with familial amyloid polyneuropathy (FAP). Using a compound score based on clinical symptoms and electrophysiological data, clinicians can now determine which patients should undergo genetic testing. “This score can be easily performed also during electrophysiological evaluation and can…

Healthcare providers involved in diagnosing and treating rare diseases believe that increased physician education and collaboration with specialized facilities will have the greatest positive impact on treating these conditions over the next five years, according to results from a 2021 survey. Definitive Healthcare, a healthcare commercial intelligence company, conducted…

In 2018, Gov. Bill Haslam made Tennessee the first U.S. state to declare March as Amyloidosis Awareness Month. Since then, those diagnosed with the disease worldwide are acknowledged, recognized, and appreciated this month for the untold challenges they face with this condition. Setting aside a particular month to…

Familial amyloid polyneuropathy (FAP) caused by Thr49Ser, a rare disease-causing mutation, was identified for the first time in three patients from Japan, as described in a recent case series. The mutation appears to be highly penetrant, according to the report, meaning most people carrying it develop overt disease symptoms.

Patient registries are a hot topic of rare disease research and many organizations are taking advantage of this resource by signing up their patient communities and connecting with researchers. Eric Sid, MD, program officer for the Office of Rare Diseases Research (ORDR), said it is difficult to estimate how…

Every week I write my column using my personal experience as a caregiver to a spouse diagnosed with hereditary ATTR amyloidosis. Writing demonstrates my competence to reflect on my words and actions. I can celebrate my strength and tenacity in carrying my responsibilities as a mother to four…

Early signs of swallowing difficulties and carpal tunnel syndrome may serve as biomarkers for familial amyloid polyneuropathy (FAP) patients carrying the Ala97Ser (A97S) mutation, a study suggests. According to researchers, these factors may help identify A97S patients who might benefit from early treatment. The study, “Unique Phenotypes With…