Articles related to RARE CONDITIONS & DISEASES

A first joint EULAR/PReS guideline unifies systemic juvenile idiopathic arthritis and adult-onset Still’s disease under a single name, Still’s disease, and recommends early IL-1 or IL-6 inhibitor therapy over prolonged glucocorticoid use.

A Medicare cohort study found a median delay of 494 days between incident heart failure diagnosis and ATTR-CM diagnosis, with female sex, aortic stenosis, COPD, coronary artery disease, diabetes, and hypertension associated with longer diagnostic delays.

Late-breaking sessions at AAN 2026 spanned rare disease, migraine prevention, epilepsy, FTD, MS, early Alzheimer’s, neuropathic pain, and stiff person syndrome, with mixed signals across disease-modifying and symptomatic therapies.

Hereditary TTP, an ultra-rare ADAMTS13 deficiency affecting roughly one in a million, is now managed with weekly recombinant ADAMTS13 infusions in a pediatric outpatient setting.

This case highlights how Rapunzel syndrome may masquerade as a functional or sensory feeding disorder and emphasizes the value of magnetic resonance enterography as a radiation-free diagnostic modality in pediatric patients with unexplained weight loss.

“We are surprised and disappointed by this FDA decision for EBV+ PTLD patients who have a significant unmet need, highlighted by tabelecleucel’s orphan drug designation and by the granting of breakthrough status.” — Dr. Cokey Nguyen, Atara CEO