A Case of Chronic Thrombocytopenia in a 17-Year-Old Female

Roger Riley, MD, PhD; Asad Khan, MD; Shella Pai, MS, SH(ASCP); Laura Warmke, MD; Marcus Winkler, MD; William Gunning, PhD


Lab Med. 2019;50(4):406-420. 

In This Article

Final Diagnosis

The peripheral blood morphologic and ultrastructural findings are diagnostic of gray PLT syndrome (GPS), a rare inherited type of thrombocytopenia characterized by a deficiency of α-granules in PLTs. GATA1 and NBEAL2 gene-mutation testing was suggested. Treatment consisted of desmopressin and/or PLT transfusion as needed for invasive procedures or severe bleeding. The patient was advised to avoid nonsteroidal antiinflammatory drugs (NSAIDs). Additional radiographic and clinical laboratory studies did not reveal a definitive etiology of the chronic fatigue or leg pain.