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Haematology
Published in Kaji Sritharan, Jonathan Rohrer, Alexandra C Rankin, Sachi Sivananthan, Essential Notes for Medical and Surgical Finals, 2021
Kaji Sritharan, Jonathan Rohrer, Alexandra C Rankin, Sachi Sivananthan
X-linked, affecting males, due to factor VIII deficiency which can be mild (>5% VIII level), moderate (1–5%) or severe (<1%). Clinical features: bleeding into deep tissues such as muscles and joints. Diagnosis: based on a normal PT but prolonged APTT which corrects with the addition of normal plasma. Treatment: intravenous recombinant factor VIII concentrate, either prophylactically (in severe disease) or at the earliest opportunity after bleeding commences. DDAVP can be given for mild or moderate cases.
Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
3.14. Which of the following is/are inherited as an autosomal recessive condition?Phenylketonuria.Cystic fibrosis.Factor VIII deficiency (haemophilia A).Neurofibromatosis.Congenital adrenal hyperplasia.
Inflammation
Published in George Feuer, Felix A. de la Iglesia, Molecular Biochemistry of Human Disease, 2020
George Feuer, Felix A. de la Iglesia
Hemorrhagic syndromes are connected with inherited defects of coagulation factors (Table 2). In these disorders the defect is mainly due to the synthesis of an abnormal protein rather than the lack of production.376 Deficiences of Factors VII, VIII, and IX are the most frequently occurring disease conditions. Both defects are related to extrinsic and intrinsic pathways of coagulation 89,157 Factor VIII and Factor IX deficiencies are X chromosomelinked disorders, and they are mainly found in males. The management of Factor VIII inhibitors in nonhemophilic patients seems to be essential.157 Hereditary antithrombin III deficiency is connected with venous thrombosis.309 In certain conditions, such as colon adenocarcinoma, the production of acquired factors has been observed.81
Iliopsoas hematomas in people with hemophilia: diagnosis and treatment
Published in Expert Review of Hematology, 2020
E. Carlos Rodriguez-Merchan, Hortensia De la Corte-Rodriguez
Beyer et al. reported in 2010 a cross-sectional survey on current practice in the treatment of muscle hematomas in patients with severe hemophilia with the contribution of 22 experts [2]. In a hypothetical case, for a 70-kg individual with a soleus triceps hematoma, the mean initial dose of factor VIII was 2730 U (range: 1750–4000) every 12 hours for 3–5 days. In a similar case of a patient with inhibitors, 31.8% mentioned first-line and solely utilization of either recombinant factor VIIa (rFVIIa) or activated prothrombin complex concentrate (APCC), while 36.4% changed between bypassing drugs. Using rFVIIa, the mean dose was 100 μg/kg (range: 85–270), and with APCC, the mean dose was 70 U kg(−1) (range: 50–100). The majority (68.2%) of experts did not utilize antifibrinolytics [2].
Patients with hemophilia A and inhibitors: prevention and evolving treatment paradigms
Published in Expert Review of Hematology, 2020
David Lillicrap, Karin Fijnvandraat, Guy Young, Maria Elisa Mancuso
Although more physiological, the strategy of replacing deficient factor VIII (FVIII) in patients with hemophilia A is not without risk, including the development of antibodies (inhibitors) against exogenously administered FVIII. About 25–30% of previously untreated patients (PUPs) with severe hemophilia A develop antibodies to FVIII [1], typically within the first 10–15 days of exposure [2]. A complex and multifactorial mix of genetic (F8 genotype, family history of inhibitors, ethnicity, human leukocyte antigen haplotype, immunogenotype, etc.) and environmental (treatment intensity, treatment regimen, product type, etc.) risk factors contribute to inhibitor development [3]. During inhibitor development, antigen-presenting cells present FVIII fragments to CD4 + T helper cells which recruit B cells which, in turn, become plasma cells that produce antibodies (Figure 1).
Unilateral nonhaemorrhagic adrenal infarction as a cause of abdominal pain during pregnancy
Published in Gynecological Endocrinology, 2019
F. Chasseloup, N. Bourcigaux, S. Christin-Maitre
Only two patients from the literature required a cesarean section due to inadequate pain management. Anticoagulation therapy was introduced in most patients even without any proof of thrombosis. As the physiopathology of adrenal infarction and hemorrhage is not clear, anticoagulation therapy should be discussed depending on bleeding risk. A case reported of sequential right then left adrenal thrombosis illustrates the importance of anticoagulation therapy to prevent further thrombotic events [3]. In this respect, it is important that all patients be screened for thrombophilia because of potential spontaneous thrombosis. Three patients were found to have increased factor VIII activity which has been associated with deep venous thrombosis [19]. One case had a factor V Leiden mutation explaining thrombosis [19]. However, one patient was found to have a heterozygous C677T polymorphism in the gene encoding Methylenetetrahydrofolate reductase (MTHFR) which has been associated with increased levels of homocysteine. Its association with deep venous thrombosis however is still controversial [20,21].