Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome

Abstract

Inherited platelet disorders (IPDs) are a heterogeneous group of diseases affecting platelet production, morphology, and function. The degree of thrombocytopenia and functional abnormality of platelets determines the clinical manifestations. Although severe deficiencies may cause excessive bleeding beginning in early childhood, most of IPDs have mild bleeding tendencies and therefore are not always easy to distinguish from acquired platelet disorders. The diagnosis of IPD may require extensive laboratory investigation, because current routine laboratory tests are not satisfactory for differential diagnosis in some cases, and most of the specific tests are not readily available in many countries. This review summarizes the classification and clinical and molecular characteristics of known IPDs, including Bernard-Soulier syndrome and Glanzmann thrombasthenia, with a focus on current challenges in the laboratory diagnosis and management of bleeding in these patients.

Improving care and treatment options for women and girls with bleeding disorders

“…Other female bleeding disorders may occur more often; in the United States and Europe, the most common of these is VWD . Other haemostatic defects include platelet deficiencies, such as Glanzmann's thrombasthenia, Bernard–Soulier syndrome and storage pool disease . Additional disorders include plasminogen activator inhibitor‐1 deficiency, connective tissue disorders and hereditary haemorrhagic telangiectasia .…”

Laboratory diagnostics of inherited platelet disorders

“…In the case of thrombocythopenia, bone marrow aspirate/biopsy is generally required to investigate abnormalities of the megakaryocytic lineage [2]. Co-morbidities and associated somatic defects, together with genetic testing, lead to the final diagnosis of the great majority of inherited thrombocythopenias such as WAS, thrombocytopenias associated with skeletal defects, MHY9-related disorders, XLT and PT/J (Figure 1).…”

“…They usually present as primary hemostatic defects that may range from a prolonged bleeding after trauma or surgery in adulthood to life-threatening, spontaneous hemorrhages (gastrointestinal, genitourinary or even intracranial) occurring early in life [1,2].…”

Modern approach to diagnosis of inherited functional platelet disorders

“…Наследственные нарушения функций тромбоцитов в рамках синдромальной патологии [14,15] частичное перекрытие симптомов между здоровой популяцией и пациентами с нетяжелыми тромбоци-топатиями [13,16]. Так, согласно данным недавнего анкетирования 500 взрослых здоровых добровольцев, у 25% опрошенных были отмечены носовые кровот-ечения, у 19% -примесь крови в стуле, у 18% -лег-кое появления экхимозов, еще у 18% -длительное кровотечение после экстракции зубов; 47% опрошен-ных женщин сообщали о наличии меноррагий, 23% -получали лечение по данному поводу [17].…”