Sticky platelet syndrome: history and future perspectives.

The sticky platelet syndrome (SPS) is a thrombophilic qualitative platelet disorder with familial occurrence and autosomal dominant trait, characterized by increased in vitro platelet aggregation after low concentrations of adenosine diphosphate and/or epinephrine. Its clinical manifestation includes arterial thrombosis, pregnancy complications (fetal growth retardation and fetal loss), and less often venous thromboembolism. SPS was considered to be a rare thrombophilic disorder, but it can be found relatively often as a cause of unexplained thrombosis, particularly among patients with arterial thrombosis such as stroke. The syndrome was recognized as a distinct disorder in 1983 by Holiday and further characterized in the 1980s and 1990s, with Mammen and Bick providing the key findings. Although recognized for more than 30 years, significant issues, namely the syndrome's etiology, inheritance, and epidemiology, remain unclear. The aim of the first part of this review is to summarize the previous 35 years of the research into, and to provide a brief historical account of, SPS. The history section is focused particularly on the work of two most prominent investigators: Eberhard F. Mammen and Rodger L. Bick. The second part summarizes the present understanding of the syndrome and outlines unresolved issues and the trends in which the future research is likely to continue.

Genetic basis of congenital platelet disorders.

Over the past 4 decades, a better understanding of the genetic origins of inherited platelet disorders has illuminated avenues of investigation in megakaryopoiesis and has identified targets of pharmacologic intervention. Many of these discoveries have been translated into clinical medicine. The success of inherited platelet disorder research is underpinned by broader advances in methodology through the biochemical and molecular revolution of the 20(th) and 21(st) centuries, respectively. Recently, modern genomics techniques have affected platelet and platelet disorders research, allowing for the discovery of several genes involved in platelet production and function and for a deeper understanding of the RNA and miRNA networks that govern platelet function. In this short review, we focus on recent developments in the genetic elucidation of several disorders of platelet number and in the molecular architecture that determines the "genetic makeup" of a platelet in health and disease.

[Blood platelets]. / Les plaquettes sanguines.

Studies of inherited platelet disorders have led to major advances in our knowledge of platelet physiology, thus permitting the development of antiplatelet agents that are now widely used to treat vascular diseases. New therapeutic strategies have also resulted from a better understanding of megakaryocytopoiesis, notably including the use of thrombopoietin analogs for immune thrombocytopenias.

2B or not to be--the 45-year saga of the Montreal Platelet Syndrome.

Over 45 years ago, Montreal Platelet Syndrome was first described as a rare inherited platelet disorder characterised by macrothrombocytopenia with spontaneous platelet clumping, abnormal platelet shape change upon stimulation and a defect in platelet calpain. This syndrome has now been reclassified as type 2B von Willebrand disease with the V1316M VWF mutation in the only kindred ever reported. We herein revisit the historical platelet characteristics originally described in Montreal Platelet Syndrome in light of the new diagnosis. This paper will review the 45-year saga of Montreal Platelet Syndrome, a story that highlights the value of revisiting a rare diagnosis to look for a more common explanation.

Russia's imperial blood: was Rasputin not the healer of legend?

The only son of Russia's last Tsar, a great-grandson of Queen Victoria, continues to be used as the favorite example of the X-linked inheritance of hemophilia, in spite of the fact that this popular historical diathesis has never been confirmed by any form of modern medical laboratory testing. Certain to be controversial, a new study of the symptoms that were witnessed by those who were closest to the teenaged Russian heir now raises the possibility that his blood disorder might well have been something other than hemophilia. The key to discovering Tsarevich Alexei's true diagnosis is found in those now legendary allegations that the infamous "Mad Monk", Grigory Rasputin, had possessed a power of healing that was somehow responsible for the young boy's mysterious history of spontaneous recoveries. If we are to accept the popular diagnosis of history and call it a clotting factor deficiency, then the boy's now famous sudden recoveries will remain a complete mystery. The so-called "Mad Monk" Rasputin, as a direct result of the revolutionary propaganda of the time, is then overblown into a larger-than-life legend. If, however, we are to change the diagnosis and call it a platelet disorder, then the air is let out of the legend, and Rasputin is revealed to have been nothing more than a very ordinary middle-aged Siberian hippie who did not possess any healing powers at all.