Alpha-1 antitrypsin deficiency (AATD) is found to be associated with pregnancy-related complications and adverse birth ...

ATTR-PN diagnosis requires a combination of neurological and non-neurological tests, such as blood pressure monitoring, a ...

The potential of axonal damage as a biomarker of disease severity and predictor of further outcomes is highlighted by its effect on functional disability, even in early disease stages. Patients who ...

A recent analysis of the PEXIVAS trial showed that plasma exchange can significantly improve kidney function in patients with AAV and kidney involvement.

The Chasing Rainbows Foundation raises awareness of rare pregnancy-related diseases. Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Erin Collins, founder of the Chasing ...

Dentists should be aware that manifestations of hereditary angioedema may be triggered by certain dental procedures. A boy who presented for dental treatment experienced periorbital and facial ...

Preimplantation genetic testing has become an effective, safe way to prevent the transmission of monogenic diseases; however, limited experience with the technique has been reported in HAE. Using ...

Managing HAE is a challenge but even more so when a patient has concomitant bipolar affective disorder. An article by Wimalasiri and colleagues published in BMJ Case Reports highlighted the unusual ...

Recent findings indicate that the new BTK inhibitors, although not targeting TEC kinases, may be responsible for fungal infections via a disruption of the signal downstream of BTK, responsible for ...

A patient with a working diagnosis of eosinophilic pneumonia was found to have EGPA upon further investigations. An elderly woman initially suspected of having eosinophilic pneumonia was eventually ...