scholarly journals Congenital Hypofibrinogenemia: Presentation of a Rare Coagulation Disorder

Cureus ◽  
2020 ◽  
Author(s):  
Karol Acevedo Viales ◽  
Kathia Valverde Muñoz ◽  
Daniela Gutiérrez Valverde
Keyword(s):  
Coagulation Disorder ◽  
Congenital Hypofibrinogenemia

scholarly journals Women With Congenital Hypofibrinogenemia/Afibrinogenemia: From Birth to Death

2020 ◽  
Vol 26 ◽  
pp. 107602962091281
Author(s):  
Yan Zhang ◽  
Xiaohang Zuo ◽  
Yue Teng
Keyword(s):  
Rare Case ◽  
Case Reports ◽  
Coagulation Disorder ◽  
Bleeding Disorders ◽  
Life Stages ◽  
Female Patients ◽  
Different Types ◽  
Congenital Hypofibrinogenemia ◽  
Fibrinogen Molecule ◽  
Spontaneous Recurrent Abortion

Congenital fibrinogen disorders are a group of most frequent rare coagulation disorder, characterized by deficiency and/or defects in the fibrinogen molecule. Quantitative disorders include hypofibrinogenemia and afibrinogenemia. Due to their specific physiological characteristics, female patients tend to have congenital hypofibrinogenemia/afibrinogenemia, such as spontaneous recurrent abortion, menorrhagia, infertility, antepartum and postpartum hemorrhage, and so on. Current studies of congenital hypofibrinogenemia/afibrinogenemia mainly focus on different types of fibrinogen mutations, etiology/pathogenesis, and some rare case reports of the diseases. So far, there is no study available to systematically review the specific features of female patients with congenital bleeding disorders. This review aims to deal with hematological, gynecologic and obstetric issues, and relevant clinical management of congenital hypofibrinogenemia/afibrinogenemia at different life stages of female patients. We believe this review provides valuable reference for clinicians in the field of hematology, obstetrics, as well as gynecology.

Hämophilie-Zentrum Bonn 1980 – 2009

2011 ◽  
Vol 31 (S 01) ◽  
pp. S4-S10 ◽  
Author(s):  
I. Besmens ◽  
H.-H. Brackmann ◽  
J. Oldenburg
Keyword(s):  
Young Patients ◽  
Severe Form ◽  
Coagulation Disorder ◽  
Care Providers ◽  
Long Distance ◽  
Patient Age ◽  
Patient Âgé ◽  
Number Of Patients ◽  
Clotting Disorder ◽  
Regional Character

SummaryThe Bonn Haemophilia Care Center provides patient care on a superregional level. The centre’s large service area is, in part, due to the introduction of haemophilia home treatment and related to this the individualized prophylaxis in children and adults by Egli and Brack-mann in Bonn in the early 1970s, that represented a milestone in German haemophilia therapy. Epidemiologic patient data from the two selected time points, 1980 and 2009, are evaluated to illustrate the change in the composition of the patient clientele. In 1980 a total of 639 patients were treated at the Bonn Haemophilia Center. 529 patients exhibited a severe form and 110 a non-severe form of the respective clotting disorder. In 2009 the Bonn Haemophilia Center took care for a total of 837 patients. There were 445 patients who suffered from a severe form of the considered clotting disorder while 392 showed a non-severe course. The number of less severely affected patients has increased significantly in 2009. Patients in 1980 were predominantly suffering from a severe form and most had to travel more than 150 km from their homes to the treatment center. In 2009 the number of patients living a medium-long distance from the care provider has significantly increased while the number of patients living more than 150km from the center has decreased. Comparing 2009 to 1980 a growth of the center’s regional character becomes apparent, especially when patient age and severity of the coagulation disorder are taken into consideration. The regional character was more strongly pronounced with milder disease severity and lower patient age. Due to the existence of well established primary haemophilia care in CCCs in Germany, the trend for the recent years is that the proportion of young patients that choose haemophilia care providers closer to their homes is increasing.

scholarly journals Thrombocytopenia and Intracranial Venous Sinus Thrombosis after “COVID-19 Vaccine AstraZeneca” Exposure

2021 ◽  
Vol 10 (8) ◽  
pp. 1599
Author(s):  
Marc E. Wolf ◽  
Beate Luz ◽  
Ludwig Niehaus ◽  
Pervinder Bhogal ◽  
Hansjörg Bäzner ◽  
...  
Keyword(s):  
Sinus Thrombosis ◽  
Clinical Manifestations ◽  
Venous Sinus ◽  
European Medicines Agency ◽  
Coagulation Disorder ◽  
Platelet Factor ◽  
Venous Sinus Thrombosis ◽  
Antiplatelet Antibodies ◽  
Imaging Results ◽  
Venous Thromboembolic Events

Background: As of 8 April 2021, a total of 2.9 million people have died with or from the coronavirus infection causing COVID-19 (Corona Virus Disease 2019). On 29 January 2021, the European Medicines Agency (EMA) approved a COVID-19 vaccine developed by Oxford University and AstraZeneca (AZD1222, ChAdOx1 nCoV-19, COVID-19 vaccine AstraZeneca, Vaxzevria, Covishield). While the vaccine prevents severe course of and death from COVID-19, the observation of pulmonary, abdominal, and intracranial venous thromboembolic events has raised concerns. Objective: To describe the clinical manifestations and the concerning management of patients with cranial venous sinus thrombosis following first exposure to the “COVID-19 vaccine AstraZeneca”. Methods: Patient files, laboratory findings, and diagnostic imaging results, and endovascular interventions of three concerning patients were evaluated in retrospect. Results: Three women with intracranial venous sinus thrombosis after their first vaccination with “COVID-19 vaccine AstraZeneca” were encountered. Patient #1 was 22 years old and developed headaches four days after the vaccination. On day 7, she experienced a generalized epileptic seizure. Patient #2 was 46 years old. She presented with severe headaches, hemianopia to the right, and mild aphasia 13 days after the vaccination. MRI showed a left occipital intracerebral hemorrhage. Patient #3 was 36 years old and presented 17 days after the vaccination with acute somnolence and right-hand hemiparesis. The three patients were diagnosed with extensive venous sinus thrombosis. They were managed by heparinization and endovascular recanalization of their venous sinuses. They shared similar findings: elevated levels of D-dimers, platelet factor 4 antiplatelet antibodies, corona spike protein antibodies, combined with thrombocytopenia. Under treatment with low-molecular-weight heparin, platelet counts normalized within several days. Conclusion: Early observations insinuate that the exposure to the “COVID-19 vaccine AstraZeneca” might trigger the expression of antiplatelet antibodies, resulting in a condition with thrombocytopenia and venous thrombotic events (e.g., intracranial venous sinus thrombosis). These patients’ treatment should address the thrombo-embolic manifestations, the coagulation disorder, and the underlying immunological phenomena.

Factor X Friuli coagulation disorder

1973 ◽  
Vol 27 (3) ◽  
pp. 151-158 ◽  
Author(s):  
Antonio Girolami ◽  
Arnaldo Carli ◽  
Roberto Falomo ◽  
Luigi Marco
Keyword(s):  
Coagulation Disorder ◽  
Factor X

scholarly journals Novel Severe Hemophilia a Mouse Model with Factor VIII Intron 22 Inversion

Biology ◽  
2021 ◽  
Vol 10 (8) ◽  
pp. 704
Author(s):  
Jeong Pil Han ◽  
Dong Woo Song ◽  
Jeong Hyeon Lee ◽  
Geon Seong Lee ◽  
Su Cheong Yeom
Keyword(s):  
Mouse Model ◽  
Hemophilia A ◽  
Clinical Symptoms ◽  
Structural Similarity ◽  
Coagulation Disorder ◽  
Severe Hemophilia ◽  
Spontaneous Bleeding ◽  
Intron 22 Inversion ◽  
Fviii Activity

Hemophilia A (HA) is an X-linked recessive blood coagulation disorder, and approximately 50% of severe HA patients are caused by F8 intron 22 inversion (F8I22I). However, the F8I22I mouse model has not been developed despite being a necessary model to challenge pre-clinical study. A mouse model similar to human F8I22I was developed through consequent inversion by CRISPR/Cas9-based dual double-stranded breakage (DSB) formation, and clinical symptoms of severe hemophilia were confirmed. The F8I22I mouse showed inversion of a 391 kb segment and truncation of mRNA transcription at the F8 gene. Furthermore, the F8I22I mouse showed a deficiency of FVIII activity (10.9 vs. 0 ng/mL in WT and F8I22I, p < 0.0001) and severe coagulation disorder phenotype in the activated partial thromboplastin time (38 vs. 480 s, p < 0.0001), in vivo bleeding test (blood loss/body weight; 0.4 vs. 2.1%, p < 0.0001), and calibrated automated thrombogram assays (Thrombin generation peak, 183 vs. 21.5 nM, p = 0.0012). Moreover, histological changes related to spontaneous bleeding were observed in the liver, spleen, and lungs. We present a novel HA mouse model mimicking human F8I22I. With a structural similarity with human F8I22I, the F8I22I mouse model will be applicable to the evaluation of general hemophilia drugs and the development of gene-editing-based therapy research.

scholarly journals Near-miss Obstetric Events in a Tertiary Care Teaching Hospital in Nepal: An Audit

2015 ◽  
Vol 10 (1) ◽  
pp. 30-32 ◽  
Author(s):  
BS Gurung ◽  
RB Koju ◽  
Y Dongol
Keyword(s):  
Blood Transfusion ◽  
Teaching Hospital ◽  
Tertiary Care ◽  
Near Miss ◽  
Coagulation Disorder ◽  
Hypertensive Disorder ◽  
Tertiary Care Teaching Hospital ◽  
Care Teaching ◽  
Obstetric Haemorrhage ◽  
Almost All

Aims: This study aims to determine the frequency of near-miss obstetric events and analyze its nature such as reasons for near-miss, organ dysfunction associated and critical management required among pregnant women managed over a 3-year period in a Tertiary Care Teaching Hospital in Nepal. Methods: This hospital based prospective, descriptive study was done from August 2011 to February 2015. Case eligibility was defined by WHO Near-Miss Guidelines. Medical records of the patients and the interview with the patient, accompanying family members and health workers from referral centres were used to generate the data which were filled in the pre-designed questionnaire. The data generated and analyzed included age and gestation weeks, parity, mode of intervention, associated organ dysfunctions, reasons for near-miss and critical intervention accompanied to manage the near-miss cases. Results were presented in mean ± SD and percentages, wherever applicable. Results: There were 4617 deliveries with 28 near-miss cases. The major factors contributing near-miss events were obstetric haemorrhage followed by hypertensive disorder. Three fourth (n=21) of cases required blood transfusion and almost all cases (n=26) required ICU management. Coagulation disorder was observed in majority of cases (n=23) followed by cardiovascular, respiratory and uterine atony. Conclusions: In this study, maternal near-miss event was mainly attributable to obstetric haemorrhage followed by hypertension and sepsis. Major organ-system disorders observed were coagulation disorder, cardiovascular, respiratory and uterine disorders. Almost all the cases were managed in ICU and majority of them required blood transfusion. 

scholarly journals POST DENTAL EXTRACTION BLEEDING : INCIDENTAL DIAGNOSIS OF A RARE COAGULATION DISORDER

2021 ◽  
Author(s):  
Arunkumar Shadamarshan ◽  
Rohit Sharma ◽  
Ishan Pradhan
Keyword(s):  
Dental Treatment ◽  
Dental Extraction ◽  
Coagulation Disorder ◽  
Surgical Specialty ◽  
Incidental Diagnosis ◽  
Congenital Factor

Management of patients with coagulation disorder is a challenge to any surgical specialty. However, fresh diagnosis of a coagulation disorder as result of complications following routine dental treatment is uncommon. We report a case of congenital Factor 13 deficiency diagnosed in a patient presenting with post-dental extraction bleeding.

scholarly journals COVID-19, neurovascular thrombotic problem and short summary on blood coagulation disorder: a brief review

2022 ◽  
Vol 58 (1) ◽  
Author(s):  
Rujittika Mungmunpuntipantip ◽  
Viroj Wiwanitkit
Keyword(s):  
Blood Coagulation ◽  
Public Health Problem ◽  
Coagulation Disorder ◽  
Global Public Health ◽  
Respiratory Viral Infection ◽  
Short Summary ◽  
Neurological Problem ◽  
Blood Coagulation Disorder ◽  
Neurological System ◽  
Global Public Health Problem

AbstractCOVID-19 is the present global public health problem. This respiratory viral infection can manifest atypical presentation including neurological presentations. An important neurological problem in COVID-19 is neurovascular thrombosis. The basic pathogenesis of thrombosis in neurological system is explainable by the basic principle of thrombohemostasis. A hypercoagulability is a possible problem seen in some COVID-19 cases. In this brief review, the authors summarize venous and arterial thrombosis of neurovascular system as a complication of COVID-19. The updated pathophysiology of COVID-associated blood coagulation disorder is discussed. In addition, consideration regarding new COVID-19 vaccine related thrombotic adverse event is also raised.

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