Trastornos plaquetarios hereditarios: una revisión narrativa de la literatura

Platelets play a pivotal role in coagulation. Inherited platelet disorders (IPDs) are rare and heterogeneous conditions caused by genetic abnormalities, which remain underdiagnosed and underreported. This literature review aimed to describe the main IPDs and their associated mutations while highlighting the clinical and laboratory keys for timely diagnosis and management. IPDs are primarily linked to specific genetic defects affecting the structure, production or function of cytoskeletal proteins, granules and platelet membrane receptors. Others are caused by germline mutations and transcription factor deficiencies. The clinical spectrum of IPDs is highly variable, even within the same disorder, ranging from asymptomatic cases to life-threatening presentations. The investigation of IPDs begins with a well-founded clinical suspicion following a meticulous analysis of the patient’s medical history and the disease course. Identifying the implicated genes is crucial for determining treatment strategies and prognosis. The only curative treatment is allogeneic hematopoietic stem cell transplantation. Prognosis is poor once myelofibrosis and pancitopenia develop. Finally, given the low prevalence and high morbidity and mortality associated with IPDs,continuous education and training for healthcare professionals are imperative.