Brahem, Imen; Charfeddine, Bassem; Chraiti, Haythem; Ben Abdallah, Jihene; Ben Othmen, Leila; Neffati, Souhir; Ali Smach, Mohamed; Ltaief, Affef; Ksourri, Monia; Dridi, Hedi; Limem, Khalifa
The deficiency in factor I or fibrinogen is a largely unknown genetic disease. It is a rare condition inherited as an autosomal recessive, whose clinical events are variable, ranging from moderate to minimal bleeding or cataclysmic hemorrhage. We report a case of congenital afibrinogenemia in a 17 years-old patient hospitalized in surgical ICU for hemoperitoneum medium abundance discovered by abdominal ultrasound performed before a picture of abdominopelvic pain lasting for 24 hours. Exploration led to the diagnosis of congenital afibrinogenemia with favorable evolution with a contribution of factor deficient. Through this case we raise the problem of congenital afibrinogenemia in diagnosis and the peculiarities of its management. PMID:20870582
C. F. S. Amaral; N. A. Rezende; T. M. G. Pedrosa; Da Silva, O A; E. R. P. Pedroso
This paper reports two cases of afibrinogenemia with normal platelet count following Crotalus durissus terrificus, snake bite Both patients presented high output acute renal failure and case two also had increased blood levels of CPK and LDH compatible with the diagnosis of rhabdomyolysis. Case one was given an unknown amount of antivenom and was treated with epsilonaminocaproic acid and a fresh whole blood transfusion and showed recovery of the coagulation disturbance 40 hours following thes...
C. F. S. Amaral
Full Text Available This paper reports two cases of afibrinogenemia with normal platelet count following Crotalus durissus terrificus, snake bite Both patients presented high output acute renal failure and case two also had increased blood levels of CPK and LDH compatible with the diagnosis of rhabdomyolysis. Case one was given an unknown amount of antivenom and was treated with epsilonaminocaproic acid and a fresh whole blood transfusion and showed recovery of the coagulation disturbance 40 hours following these measures. Case two was given an adequate amount of crotalide antivenom and the coagulation tests performed 12 hours later showed a normal partial thromboplastin time and fibrinogen 86 mg/100ml. Case one presented no haemorrhagic disturbances. Case two presented persistent bleeding following venopuncture and after removal of impetigo crust in the legs. Acute renal failure was treated conservatively and both patients were discharged from the hospital with recovery of the renal function.
Sham Sunder Goyal
Full Text Available Congenital afibrinogenemia is a very rare autosomal recessive disorder, results from mutation that affects plasma fibrinogen concentration. It is frequently associated with bleeding diathesis of varying severity. We describe the case of a 10-year-old child diagnosed of congenital afibrinogenemia who presented to hospital with subperiosteal haematoma and was posted for incision and drainage. Replacement therapy is the mainstay of treatment of bleeding episodes in this patient and plasma-derived fibrinogen concentrate is the agent of choice. Cryoprecipitate and fresh frozen plasma are alternative treatments. Appropriate amount of cryoprecipitate were transfused pre-operatively to the child. Individuals with congenital afibrinogenemia should be managed by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Anaesthesiologist, surgeons and haematologist should work like a unit to manage the surgical emergencies.
Neerman-Arbez, Marguerite; Honsberger, Ariane; Antonarakis, Stylianos E; Michael A. Morris
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by the complete absence of detectable fibrinogen. Uncontrolled bleeding after birth from the umbilical cord is common, and spontaneous intracerebral bleeding and splenic rupture can occur throughout life. Patients respond well to fibrinogen replacement therapy, either prophylactically or on demand. Because the half-life of infused fibrinogen is essentially normal, the genetic defect is assumed to be at the level o...
Tavil, Betül; Korkmaz, Ayşe; Bayhan, Turan; Aytaç, Selin; Unal, Sule; Kuskonmaz, Baris; Yigit, Sule; Cetin, Mualla; Yurdakök, Murat; Gumruk, Fatma
In this study, we aimed to evaluate the incidence, risk factors, causes and clinical management of intracranial haemorrhage (ICH) diagnosed during foetal life or in the first month of life in term neonates with a discussion of the role of haematological risk factors. This study included term neonates (gestational age 37-42 weeks) with ICH diagnosed, treated and followed up in the Neonatal Intensive Care Unit of Hacettepe University, Ankara, Turkey, between January 1994 and January 2014. Medical follow-up was obtained retrospectively from hospital files and prospectively from telephonic interviews and/or clinical visits. During the study period, 16 term neonates were identified as having ICH in our hospital. In six (37.5%) neonates, ICH was diagnosed during foetal life by obstetric ultrasonography, and in 10 (62.5%) neonates, it has been diagnosed after birth. Haemorrhage types included intraventricular haemorrhage (IVH) in eight (50.0%), intraparenchymal haemorrhage in six (37.5%), subarachnoid haemorrhage in one (6.2%) and subdural haemorrhage in one (6.2%) neonate. IVH was the most common (n = 5/6, 83.3%) haemorrhage type among neonates diagnosed during foetal life. Overall, haemorrhage severity was determined as mild in three (18.7%) neonates, moderate in three (18.75%) neonates and severe in 10 (62.5%) neonates. During follow-up, one infant was diagnosed as afibrinogenemia, one diagnosed as infantile spasm, one cystic fibrosis, one orofaciodigital syndrome and the other diagnosed as Friedrich ataxia. Detailed haematological investigation and search for other underlying diseases are very important to identify the reason of ICH in term neonates. Furthermore, early diagnosis, close monitoring and prompt surgical interventions are significant factors to reduce disabilities. PMID:26829281
Full Text Available Objective: We did a clinical audit to determine the status of coagulation disorders in a hemophilia care center in Pakistan. Setting: Fatimid foundation blood bank and hematological diseases center, Lahore. Study Design: This is a retrospective descriptive study. Materials and Methods: All patients registered at Lahore center were included. Data was collected using a questionnaire including age, gender, diagnosis, hepatitis and human immune deficiency virus (HIV status, number of episodes of bleeding, most common site of bleeding, severity of disorder and number of transfusions required to treat the episode. Results: During the study period, a total of 923 registered patients were reviewed at Lahore center and of these, 408 patients (44.2% were on regular follow-up. Inherited bleeding disorders identified in these patients included hemophilia A, hemophilia B, vWD, factor VII deficiency, factor V deficiency, factor X deficiency, dysfibrinogenemia, afibrinogenemia, factor XIII deficiency; and platelet function defects. Median age was 17 years with a range of three to 57 years. Median age at diagnosis was one year. There were 329 (80.6% males and 79 (19.3% females. The products used in these patients included factor VIII concentrate, fresh frozen plasma, cryoprecipitate, cryosupernatant and platelets. Testing for transmission of viral infections was also done in these patients and one patient (0.2% was found hepatitis B positive, six patients (1.4% were hepatitis C positive and two patients (0.49% were HIV positive. Conclusion: Hemophilia A, hemophilia B and vWD are the commonly encountered inherited bleeding disorders in our patients followed by other recessively transmitted disorders with a median age of 17 years and male to female ratio of 4: 1. Most of the patients utilized services available at Fatimid foundation with good clinical results. In Pakistan, non-governmental organizations (NGOs are trying their best for providing optimal treatment