Diagnosis

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

Neal Weinreb, MD, FACP highlights the latest information about Gaucher disease from WORLDSymposium and provides expert analysis of its clinical relevance to help health care providers better care for patients with this rare disease.

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

Michael E. Wechsler, MD, MMSc provides an overview of Eosinophilic Granulomatosis with Polyangiitis (EGPA) – including how to shorten individuals’ diagnostic journey and the time till they access effective therapy – through these brief courses that are certified for CME credit.

Morie A Gertz, MD, MACP provides an overview of TTR Amyloidosis – including how to shorten individuals’ diagnostic journey and the time till they access treatment which might improve their quality of life or even prevent disease progression – through these brief courses that are certified for CME credit.

• Heather Lau, MD, MS, NYU School of Medicine, New York, NY
• Morie A Gertz, MD, Mayo Clinic, Rochester, MN
• Timothy Craig, DO, Penn State University, Hershey, PA
• Eric T. Wong, MD, Harvard Medical School, Boston, MA