When to suspect inherited platelet disorders and how to diagnose them

Diagnostic workup of inherited platelet disorders

“…Genetic testing aims to determine the precise cause of IPDs, especially when other laboratory tests are not informative, confirm a diagnosis of IPDs suggested by the above-mentioned laboratory tests, and guide optimal treatment [ 2 , 11 ]. In addition, molecular analysis can provide information on the disease course, such as IPDs associated with myelofibrosis, lung fibrosis, and malignancy [ 2 ].…”

“…Inherited platelet disorders (IPDs) can cause mucocutaneous bleeding due to impaired primary hemostatic function of platelets, thrombocytopenia, or both. IPDs show markedly heterogeneous clinical presentation and genetics [ 1 - 3 ]. The prevalence of IPDs is considered very low, approximately 1 in 10 4-6 persons worldwide [ 4 , 5 ].…”

“…Although this classification can help understand the pathophysiology and characteristics of each IPD, a specific subtype of IPD is diagnosed by synthesizing various test results in real-world clinical practice. A few clinical guidelines suggest a step-by-step approach for diagnosing IPDs [ 2 , 3 , 9 , 10 ]. The first step in the diagnosis of IPDs starts with a careful clinical evaluation of the patient and family members, including history and pattern of bleeding with or without surgery and trauma, intake of food drugs that can affect platelet function, and family history of thrombocytopenia or other malignancies [ 9 , 11 ].…”

“…If IPDs are suspected, a laboratory workup begins. Routine laboratory evaluations, such as complete blood count (CBC), prothrombin time, activated partial thromboplastin time, and screening tests for vWD including von Willebrand factor (vWF) antigen, ristocetin cofactor activity, and coagulation factor VIII activity, should be performed [ 2 , 9 ]. Diseases that are not related to platelet function, particularly immune thrombocytopenia (ITP), should be excluded before starting diagnostic workup for IPDs.…”