Ryan O’Keefe: Exploring Gaucher’s Disease
Ryan O’Keefe, Internal Medicine Resident at the Hospital of The University of Pennsylvania, Creator of Point of Care Medicine, shared a post on X:
“Gaucher’s Disease
Gaucher’s disease is the most common lysosomal storage disorder, caused by a deficiency of the enzyme glucocerebrosidase (GBA).
This leads to the accumulation of its substrate, glucocerebroside, within the lysosomes of macrophages, forming ‘Gaucher cells.’
These lipid-laden cells infiltrate various organs, leading to a variable clinical picture that often mimics rheum, heme, and infectious diseases.
Hepatosplenomegaly is a classic finding due to the infiltration of Gaucher cells in the reticuloendothelial system.
Bone pain, lytic lesions, pathologic fractures, and avascular necrosis are common.
Anemia and thrombocytopenia are frequent due to bone marrow infiltration and hypersplenism.
Gaucher’s disease confers a significantly increased lifetime risk of hematologic malignancies, particularly multiple myeloma and other gammopathies.
Patients require lifelong screening with SPEP, UPEP, and serum free light chains.
The chronic inflammation can manifest as fever, arthritis, and marked hyperferritinemia, mimicking adult-onset Still’s disease.
Source: CPS – April 25, 2026 Simplicity in Complexity – rheumatoid arthritis in the setting of a febrile illness”
Stay updated with Hemostasis Today.
-
Aug 13, 2026, 18:39Lukas Röthlisberger: Real-World Evidence on Effectiveness and Safety of Rivaroxaban in Children
-
Aug 13, 2026, 18:36Soner Yilmaz: Blood Safety in Türkiye Through More Than 22.5 Million Blood Donations
-
Aug 13, 2026, 18:31Muthukumarasamy Raja: FDA Approval of EZPLAZ Marks a Breakthrough in Emergency Plasma Care
-
Aug 13, 2026, 18:29Peter Zdziarski: Protecting Our Community While Creating a Future Where We Are No Longer Needed
-
Aug 13, 2026, 18:29Morgan E Amos: Thrilled to Receive the Student Research Award From HTRS
-
Aug 13, 2026, 16:38Sheharyar Raza: Plasma Exchange in Multiple Sclerosis
-
Aug 13, 2026, 16:31Juan Manuel Cisneros Carrasco: The True Cost of Blood Donation
-
Aug 13, 2026, 16:25Connie Montgomery: Bridging the Gap Between Patients, Culture and Clinical Trials
-
Aug 13, 2026, 16:16Isabella Presch: A New AI Approach to Protein Engineering