Problems in diagnosing congenital dysfibrinogenemia and hypofibrinogenemia: The genetic characteristics of the first "Polish" fibrinogens [Problemy diagnostyki dysfibrinogenemii i hipofibrynogenemii wrodzonej - Charakterystyka genetyczna pierwszych "polskich" fibrynogenów]
Undas A.,Zaklad Kardiochirurgii |
Iwaniec T.,II Katedra Chorob Wewnetrznych |
Zawilska K.,Oddzial Hematologii I Chorob Wewnetrznych
Acta Haematologica Polonica | Year: 2011
Congenital quantitative and/or qualitative abnormalities of the fibrinogen molecule are characterized by a decreased functional fibrinogen concentration (usually <1.5 g/l) and normal fibrinogen antigen in dysfibrinogenemia or similarly reduced in the case of hypofibrinogenemia. Over 450 cases of genetically determined variants of fibrinogens, mostly caused by a mutation in the α- or γ-chain fibrinogen genes, have been described so far. Dysfibrinogenemia usually is detected incidentally in adults, 50-60% of them have no symptoms of hemostatic disorders, while in the remaining subjects there are either venous and/or arterial thrombosis or embolism, only 25% of them have bleeding tendency, e.g. epistaxis or after tooth extraction. The first case of hypofibrinogenemia (γAla82Gly) has been described in an elderly woman with marked bleeding tendency, impaired wound healing and miscarriages. The first original "Polish" fibrinogens, discovered in 2008-2010, were named fibrinogen Krakow, fibrinogen Poznan and fibrinogen Zabrze. Fibrinogen Krakow (γAsn325Ile) is a case of dysfibrinogenemia manifested as venous thrombosis at a young age, fibrinogen Poznan (γLys111X) is a nonsense mutation associated with hypofibrinogenemia and a mild bleeding diathesis, and fibrinogen Zabrze (γArg275His) is asymptomatic dysfibrinogen, characterized by reduced fibrin clot permeability and susceptibility to lysis. The first Polish experience in the detailed evaluation of genetically determined disorders of fibrinogen structure confirms that the thrombin time and fibrinogen concentration should be included in the screening panel, not only in patients with a history of bleeding, but also in those with venous or arterial thrombosis, especially if their family history is positive. Once detected reduced levels of fibrinogen (<1.5 g/l), obtained mostly by the coagulometric (the Clauss) method, should entail a more detailed assessment of the patient, including genetic testing and genetic counseling.
Mastalerz L.,II Katedra Chorob Wewnetrznych |
Kania A.,II Katedra Chorob Wewnetrznych
Pneumonologia i Alergologia Polska | Year: 2010
Recently published international recommendations including Global INitiative for Asthma, PRACTicing ALLergology and Allergic Rhinitis and its Impact on Asthma offer antileukotriene drugs for adult and childhood asthma and allergic rhinitis. In this article we discuss the arguments for and against antileukotriene drugs therapy in the treatment of obstructive lung diseases and rhinitis. © 2010 Via Medica.