Spontaneous splenic rupture in a patient with congenital afibrinogenemia

Abstract

Afibrinogenemia is a rare bleeding disorder which is observed with an incidence of 1:1 000 000. It is an autosomal recessive disease and occurs as a result of mutation in one of the three genes which code the three polypeptide chains of fibrinogen. Basic clinical findings include spontaneous bleeding, bleeding after minor trauma or due to surgery. Splenic rupture in afibrinogenemia has been reported only in 6 cases so far. In this article, we present a 15-year old congenital afibrinogenemia patient with spontaneous splenic rupture. (Türk Ped Arş 2014; 49: 247-9)

Clinical Features and Management of Congenital Fibrinogen Deficiencies

“…10 Cerebral bleeds, sometimes spontaneous, are the leading cause of death. 11,12 Three clinical manifestations are peculiar to afibrinogenemia: an increased susceptibility to spontaneous splenic rupture, 13 poor wound healing, 14 and painful bone cysts 15 (►Table 1). The third classically develop in the diaphysis of long bones during childhood and seem to benefit from fibrinogen substitution, suggesting hemorrhage during bone remodeling as a possible etiology.…”

Spontaneous vulvar hematoma as a rare manifestation of congenital hypofibrinogenemia. Case report

“…The most frequent clinical manifestations of hypofibrinogenemia are umbilical cord hemorrhage, intracranial hemorrhage and mucosal hemorrhage; other less frequent manifestations are skeletal muscle hemorrhage, joint bleeds, paradoxical arterial and venous thrombotic events (9), ruptured spleen (3,12) and hepatic hematoma. (13) There are no reported cases describing spontaneous vulvar hematoma as a clinical manifestation.…”

“…When severe hemorrhagic manifestations, such as gastrointestinal bleeding with unknown etiology, are observed, the corresponding studies should be carried out to look for the cause. (1,(3)(4)(5)(6) The severe form of hypofibrinogenemia is similar to afibrinogenemia (1), and also manifests itself mainly in the neonatal period, in 85% of cases through umbilical cord bleeding. Its presentation in older individuals is rare, and its hemorrhagic manifestations may be gastrointestinal, genitourinary, cutaneous, by spontaneous splenic rupture and central nervous system; the latter is the main cause of death in these patients.…”

“…Its presentation in older individuals is rare, and its hemorrhagic manifestations may be gastrointestinal, genitourinary, cutaneous, by spontaneous splenic rupture and central nervous system; the latter is the main cause of death in these patients. (2,3,5) To diagnose hypofibrinogenemia, immunoreactive fibrinogen levels are evaluated, obtaining results that show very low values that should be associated with prolonged clotting times. (1,2,7) Treatment in symptomatic individuals consists mainly of fibrinogen replacement therapy and strict daily follow-up of fibrinogen levels in plasma in order to ensure adequate hemostasis.…”

Blunt abdominal trauma. Spleen injuries. Part 2

“…Для повреждения селезенки, особенно патологически измененной, не требуется приложения большой силы. Хорошо известны случаи ее спонтанного разрыва при различных заболеваниях [25,42,46,51,74,87]. Прочность селезенки на разрыв на 4 / 5 обеспечивается неповрежденной капсулой [73].…”