Rezidivierende Phlebothrombosen und Ulcera crurum als Manifestationsformen hereditärer Gerinnungsstörungen und des Klinefelter-Syndroms

Abstract

Recurrent phlebothromboses in young patients with subsequent severe postthrombotic syndrome and chronic venous leg ulcers may be caused by underlying hereditary disorders of hemostasis or may occur as part of other congenital syndromes. The most common hereditary disorders of hemostasis in this respect appear to be deficiencies of antithrombin III, protein C, and protein S, and activated protein C resistance (mutations of factor V). Less frequently, dysfibrinogenemia, increased plasminogen activator inhibitor levels, or deficiencies of tissue plasminogen activator or heparin cofactor II may be found. Klinefelter's syndrome and homocystinuria are prime examples of those rare congenital disorders indirectly associated with an elevated risk of thrombosis in young individuals. Early diagnosis of these disorders will allow timely treatment, preventive care and counselling of patients as well as family members.

Increased activity of factor VIII coagulant associated with venous ulcer in a patient with Klinefelter's syndrome

“…Impaired wound healing and spontaneous ulcerations in patients with Klinefelter's syndrome are said to be attributed to venous insufficiency and complicated by thromboembolic events. In some clinical reports an association of Klinefelter's syndrome with thrombophlebitis, 5 factor V Leiden mutation 6 or evidence of platelet hyperaggregability 7 had been found. Local impairment of fibrinolysis leading to the development of microthrombi may be other important factors in these thromboembolic processes 2 .…”

Venous Leg Ulcers in a Patient with Klinefelter's Syndrome and Increased Activity of Plasminogen Activator Inhibitor-1

“…Leg ulcerations in patients with Klinefelter's syndrome are often attributed to venous insufficiency and complicated by thromboembolic processes. Some investigators have found an association between Klinefelter's syndrome and thrombophlebitis (3,4), or evidence of platelet hyperaggregability (5). Local impairment of fibrinolysis leading to the development of microthrombi may be another important factor in these thromboembolic processes (6).…”

Ulcus cruris bei einem 37jährigen Mann als Hinweis auf ein Klinefelter-Syndrom

“…das Antikardiolipin-Syndrom oder erhöhte Plasminogen-Aktivator-Inhibitor-(PAI-) Spiegel verantwortlich gemacht (6,10,15,17). Die Funktion von PAI besteht in der irreversiblen Bindung von Plasminogen-Aktivator, welcher so nicht mehr fibrinolysiert werden kann, mit Entwicklung von venösen und arteriellen Thromben (12,17…”

“…Bei Betroffenen besteht eine erhöhte Inzidenz von Varikosis, chronischer venöser Insuffizienz mit rezidivierenden Ulzera und tiefen Beinvenenthrombosen, deren Ursache bisher ungeklärt ist (3,12,13,16). Mögliche pathogenetische Faktoren werden im weiteren diskutiert.…”