Congenital dysfibrinogenemias: Molecular abnormalities of fibrinogen

Abstract

Congenital dysfibrinogenemias are characterized by a qualitative abnormality o the fibrinogen molecule. Since the first description by Imfoerato and Dettori in 1958 [15], a total of 28 families consisting of 107 patients with this disorder have been reported (Table 1), In analogy to the hemoglobinopathies, the abnormal fibrinogens are named according to the cities where they were discovered. Only a few of the reported patients have an overt hemorrhagic diathesis which may explain the relative infrequency with which the disease is described in the literature. The disorder is inherited and transmitted from either sex to either sex. Only four of the reported cases lack a positive family history; all others appeared in families with an autosomal dominant pattern of heredity. It could be demonstrated in Fibrinogen Detroit that the homozygotes have completely abnormal fibrinogen molecules in their plasma, while heterozygotes have about half normal and half abnormal molecules [24]. Only members of 14 of the 28 families (noted by a single asterisk in Table 1) had a hemorrhagic diathesis which was generally very mild in nature. Some bruising, mild hemorrhages following trauma and occasionally prolonged menstrual periods seem to be the most common clinical findings. Interestingly, patients with Fibrinogen Baltimore, Paris II and New York suffered from thromboembolic disease. The laboratory diagnosis greatly depends upon whether a patient is homozygous or heterozygous. The only two tests that seem to be uniformly abnormal in all cases are thrombin times and reptilase times. Only Fibrinogen Oklahoma had normal thrombin times. This is due to the fact that the abnormality affects the stabilization phase of fibrin formation and not the proteolytic or the polymerization phase. The delayed fibrin formation from fbrinogen by thrombin cannot only be demonstrated in plasma but also with the purifed fibrinogen. In some instances, the addition of calcium chloride to the plasma shortened the thrombin times. Mixing patient's plasma with normal plasma and then performing thrombin times has in some instances

DOI: 10.1007/BF00995218

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@article{Mammen1976CongenitalDM, title={Congenital dysfibrinogenemias: Molecular abnormalities of fibrinogen}, author={Eberhard F. Mammen}, journal={Blut}, year={1976}, volume={33}, pages={229-234} }