Test Your Knowledge About the Diagnosis of Alpha-1 Antitrypsin Deficiency Test Your Knowledge About the Symptoms of Patients With AATD Test Your Knowledge About the Prognosis of Patients With AATD ...

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 ...

EGPA-associated nasal polyposis should be managed with medically (ie, biologics, anti-inflammatory drugs, and topical corticosteroids) and, in some cases, surgery. Nasal polyposis associated with ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

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 ...

Baby marijuana plants grow under artificial light at the giant indoor cultivation facility of Curio Wellness in Timonium, Maryland. (Photo by Larry Luxner) Huntington disease is one of the many ...

Approximately 42% of patients showed evidence of SMN1 to SMN2 conversion, confirmed by the presence of SMN1-specific variants downstream of SMN2. To shed more light on the genetic determinants of SMA ...

The use of semaglutide has been associated with improvement of treatment-resistant mast cell activation symptoms in an overweight patient with SM. Glucagon-like peptide-1 receptor agonists (GLP-1RAs) ...

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 ...

In diagnosed cases of cutaneous mastocytosis, investigations to rule out systemic mastocytosis may be appropriate. A young child with a small chest lump and anemia was found to have cutaneous ...

Literature on pediatric IgG4-RD is relatively scarce, meaning that much about the disease course in this patient population is unknown. Immunoglobulin G4-related disease (IgG4-RD) is a rare ...

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.