Massive Splenomegaly with Pancytopenia in an Adult: Gaucher's Disease.

Farid AlamJitendra SinghNilesh KumarKailash KumarAnju Dinkar

Published in: Cardiovascular & hematological disorders drug targets (2023)

This case emphasizes keeping a differential diagnosis of glycogen storage disorder while evaluating a case of unexplained pancytopenia with massive splenomegaly in adulthood for an extended period. Currently, enzyme replacement therapy and substrate reduction therapy are the mainstay therapeutic options for GD.

Keyphrases

replacement therapy
smoking cessation
depressive symptoms
early life
bone marrow
structural basis