The thicker, and potentially stiffer, sclera can lead to overestimation of intraocular pressure (IOP) and potential misdiagnosis of glaucoma. Patients with acromegaly have significantly thicker ...

Early recognition of acromegalic features can expedite diagnosis and reduce heart failure risk. Timely surgical resection of a growth hormone-secreting pituitary adenoma, combined with ...

Three of the 4 patients with hereditary transthyretin amyloidosis (ATTR) and a negative bone scintigraphy had cardiac carbon-11-labeled Pittsburgh compound B uptake. Cardiomyopathy could be detected ...

Oral infigratinib demonstrated the first statistically significant improvement in body proportionality in a randomized achondroplasia trial. BridgeBio Pharma reported positive topline results from ...

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a rare acquired autoimmune neurological disorder in which both T-cell-mediated and humoral immune mechanisms target healthy myelinated ...

Taylor Kane is executive director of Remember the Girls, a nonprofit group that advocates on behalf of females with X-linked disorders (Photo courtesy of Taylor Kane) New Jersey native Taylor Kane ...

Columnist with multiple sclerosis (MS) discusses how rising drug costs affect people with MS, recommending a few ways to handle the problem.

Gastrointestinal involvement in systemic mastocytosis (SM) is a common complication and often leads to endoscopic findings. Gastrointestinal (GI) symptoms are the second most frequent clinical ...

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jennifer Miller, MD, a professor of pediatric endocrinology at the University of Florida in Gainesville who specializes in ...

Testing for elevated tryptase levels and mast cell activation may reveal SM in cases with multiple possible diagnoses. Diagnosis of systemic mastocytosis (SM) was delayed in a patient due to symptoms ...

The updated 2025 BSR management recommendations for patients with AAV provide systematic and evidence-based recommendations to support UK clinicians in managing AAV across the entire life course.

Rare Disease Advisor, a trusted source of medical news and feature content for healthcare providers, offers clinicians insight into the latest research to inform clinical practice and improve patient ...