title: Inherited thrombocytopenias frequently diagnosed in adults.
abstract: The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are all rare diseases, they are little known by clinicians, who therefore tend to suspect the most common forms. Second, making a definite diagnosis often requires complex laboratory techniques that are available in only a few centers. Finally, half of the patients have forms that have not yet been described. As a consequence, many patients with inherited thrombocytopenias are misdiagnosed with immune thrombocytopenia, and are at risk of receiving futile treatments. Misdiagnosis is particularly frequent in patients whose low platelet count is discovered in adult life, because, in these cases, even the inherited origin of thrombocytopenia may be missed. Making the correct diagnosis promptly is important, as we recently learned that some forms of inherited thrombocytopenia predispose to other illnesses, such as leukemia or kidney failure, and affected subjects therefore require close surveillance and, if necessary, prompt treatments. Moreover, medical treatment can increase platelet counts in specific disorders, and affected subjects can therefore receive drugs instead of platelet transfusions when selective surgery is required. In this review, we will discuss how to suspect, diagnose and manage inherited thrombocytopenias, with particular attention to the forms that frequently present in adults. Moreover, we describe four recently identified disorders that belong to this group of disorders that are often diagnosed in adults: MYH9-related disease, monoallelic Bernard-Soulier syndrome, ANKRD26-related thrombocytopenia, and familial platelet disorder with predisposition to acute leukemia.
authors.affiliation: Department of Internal Medicine, University of Pavia-IRCCS Policlinico San Matteo Foundation, Pavia, Italy. c.balduini@smatteo.pv.it
authors.forename: C L
authors.initials: CL
authors.lastname: Balduini
authors.forename: A
authors.initials: A
authors.lastname: Savoia
authors.forename: M
authors.initials: M
authors.lastname: Seri
mesh_terms: D000328:Adult; D001606:Bernard-Soulier Syndrome / Q000175:diagnosis; D001791:Blood Platelet Disorders / Q000175:diagnosis; D001792:Blood Platelets / Q000166:cytology; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D007938:Leukemia / Q000097:blood / Q000235:genetics; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D010976:Platelet Count; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C583630:ANKRD26 protein, human; D036341:Intercellular Signaling Peptides and Proteins; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D009687:Nuclear Proteins; D018995:Myosin Heavy Chains
keywords: bleeding disorders; inherited disorders; platelets; thrombocytopenia