hemophilia a case report

Activated partial thrombo- present the onset of deep vein thrombosis in a 32-year-old plastin time, bleeding time and prothrombin time are male patient with hemophilia A. given in Table 1. the use of rFVIIa or activated prothrombin complex concentrate (aPCC) are recommended for the treatment of severe bleeding in patients with AHA. Out of these cookies, the cookies that are categorized as necessary are stored on your browser as they are as essential for the working of basic functionalities of the website. Report of a case Oral Surg Oral Med Oral Pathol. Otaki Y, Kouda R, Fujimura T, Nakatsue T, Wakasugi M, Murakami S, Kuroda T, Narita I, Nakano M, Gejyo F. Clin Exp Nephrol. Hemorrhages in the musculoskeletal system of patients with hemophilia give rise to a number of disabilities requiring rehabilitative measures. Acquired hemophilia A (AHA) is a bleeding disorder caused by autoantibodies against FVIII with an estimated incidence of 1.48 cases per million people per year. On magnetic resonance imaging, epidural hematoma at L1-2 was accompanied by spinal stenosis at L4-5 … Cependant, dans un tiers des cas, l'hémophilie est engendrée par une mutation de novo[réf. Immunosuppressive treatment with the combination of oral prednisone 60 mg/24h and cyclophosphamide 150 mg/24h was administered in order to remove the factor VIII inhibitor. Acquired hemophilia in the patient suffering from rheumatoid arthritis: case report. The condition is often associated with other autoimmune disorders, and the treatment involves replacement of FVIII and various modes of immunosuppression. Keywords. 2007 May-Jun;117(5-6):241-5. These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding … This website uses cookies to improve your experience. Later, the man was transferred to the hematology department where he continued full dose steroid treatment in association Factor VIII 500 (Emoclot) every 12-24 hours for 3 days. Ces défauts sont dus à une déficience d'un des facteurs suivants : XI, IX ou VIII, ou à la présence d'anticoagulants contre l'un de ces facteurs. A total of 8 units were given during his stay. Notably, he brought test results performed about three months before, with completely normal values, including the PTT. 1982 Apr;53(4):347-50. doi: 10.1016/0030-4220(82)90433-9. These are the aPTT values ​​after treatment with NovoSeven: With this therapy and transfusions, the man showed normal values of hemoglobin and control of bleeding. Currently the patient is well and has not had new hemorrhagic episodes. It is caused by suddenly appearing autoantibodies that interfere with coagulation factor VIII activity. Its reported incidence is as low as 1.20 to 1.48 cases per million per years. The hematoma stretched from the foot up to the thigh. COVID-19 is an emerging, rapidly evolving situation. Grunewald M, Beneke H, Guthner C, Germowitz A, Brommer A, Griesshammer M. Acquired haemophilia: experiences with a standardized approach. Acquired hemophilia is a severe bleeding diathesis that affects both males and females. ,. Considering the history of malignant disease, cancer markers were measured and were negative. So-called mixing tests are customarily performed to distinguish between factor deficiency and the presence of an inhibitory substance. The patient reported having had an accidental fall about a week before, but had hit the right leg. The vital signs were normal; blood tests showed reduced hemoglobin (8,9 g/dl), normal platelets, activated partial thromboplastin time (aPTT) was high/undetectable (when measured the following day, it was initially 56 sec), an elevated C-reactive Protein (PCR) equal to 15,30 mg/dl, increased fibrinogen level and neutrophil leukocytosis. We report a new case which was the inaugural sign of hemophilia A. Acquired hemophilia A (AHA) is a bleeding diathesis caused by the production of autoantibodies to factor VIII (FVIII). Herein, we report a case of a 26-year-old woman who presented with hemoperitoneum in the postpartum period following a … Ma AD, Carrizosa D. Acquired factor VIII inhibitors: pathophysiology and treatment. We report a case of total hip arthroplasty for a woman with hemophilia A. Hospital stay lasted ten days, the last aPTT was 42 sec; at discharge from Hematology was instructed to perform periodic monitoring of coagulation markers. We present a case report of the successful protocol for treatment of a National Collegiate Athletic Association (NCAA) Division I collegiate basketball player with moderate hemophilia through 2 full competitive seasons. If this is not done prognosis will be poor. The … We also use third-party cookies that help us analyze and understand how you use this website. In any elderly patient with a bleeding diathesis and an abnormality in intrinsic … Case report. The clinical bleeding history of the patient was unclear. [Immunosuppressive treatment of a spontaneous inhibitor hemophilia A using cyclophosphamide, vincristine and prednisone following prior Factor VIII stimulation]. The suspicion of a coagulation abnormality was confirmed on Mixing test. Acquired hemophilia A (AHA) is a potentially life-threatening bleeding disorder caused by the abnormal production of antibodies against clotting factor VIII (FVIII). Hemophilia C or factor XI deficiency is a rare clotting disorder with prevalence of only 1 per 1 million. … These cookies do not store any personal information. Gupta AD, Mahalanabis D. Genu recurvatum in hemophilia: a case report. In view of the potential side effects of hemostatic agents, particularly in elderly patients with comorbidities, the risks, benefits and costs of treatment must be weighed carefully and on an individual basis. It is usually characterized by severe, spontaneous bleeding, which can be life-threatening. He stated that he had never suffered spontaneous bleeding and was not aware of cases in his extended family. It manifests as an isolated deranged activated partial thromboplastin time (aPTT) indicating a defect in the intrinsic coagulation pathway. We hypostasized that they were most probably against factor VIII. In young patients, this disorder is commonly observed during the post-partum period, and has been rarely documented in the prepartum. In a pre-operative consultation, he told the anaesthesiologist he had once L'hémophilie est une anomalie constitutionnelle de la coagulation sanguine en rapport avec un déficit dun des facteurs de la coagulation. Laboratory studies revealed specific complete inhibition of factor VIII in the blood. However, this entity is underreported because diagnosis is often missed in routine practice as its symptoms differ from its congenital counterpart. Patient management is tricky because the bleeding rarely correlates with laboratory assessments. Recently, rituximab has emerged as a promising new agent for the eradication of inhibitors in patients with acquired hemophilia. Drobiecki A, Pasiarski M, Hus I, Sokołowska B, Wątek M. Blood Coagul Fibrinolysis. Dürig J, de Wit M, Fiedler W, Marx G, Hossfeld DK. Myelofibrosis and acquired hemophilia A is a rare association. Please enable it to take advantage of the complete set of features! Initial hemoglobin was 8,1 g/dl, subsequently it declined and he received transfusions with packed red blood cells in order to maintain levels around 8 g/dl. We report a case of acquired hemophilia A complicating a chronic myelomonocytic leukemia. An isolated prolongation of the activated partial … USA.gov. This disorder is characterized by spontaneous and post-traumatic subcutaneous bleeds and massive mucosal hemorrhages. Hence our report reinforces the hypothesis that Hemophilia A might be a new cause of SSCNS which would be critical for … Hemophilic pseudotumor of the inferior maxilla. In our case, the cause that triggered this bleeding remains unknown, although a possible explanation could be a reactivation of chronic autoimmune inflammatory disease (rheumatoid arthritis). The rational is that a huge amount of aFVII will simply by-pass the deficient FVIII. Reduction of the factor VIII inhibitor titer to 38 BU/ml and increase of factor VIII activity to 4% was initially achieved. The most important factor, however, was finding the right path and the right therapy (also thanks to the literature) to a not so frequent disease in a DEA Department. Angiography was immediately preformed with the intent of treating the bleeding vessels with therapeutic thrombosis, but the bleeding was not sustained by large vessels and thus treatment was not preformed. An underlying medical condition can be identified in up to 50% of patients, including autoimmune diseases, solid tumors, lymphoproliferative malignancies and pregnancy. Hemophilia A, also known as factor VIII deficiency, is a rare disorder caused by an insufficient level of factor VIII, an essential clotting protein. The current standard treatments for bleeding prophylaxis are highly effective but accompanied with some disadvantages such as frequent intravenous … Therapy was initiated with enoxaparin 4000 UI s.c. q.d. (fig 2). Infection by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the coronavirus causing COVID-19, can induce the onset of acquired hemophilia A (AHA), a case report has found. Hemophilia A, also known as factor VIII deficiency, is a rare disorder caused by an insufficient level of factor VIII, an essential clotting protein. As a result of bleeding into muscle tissue, people with hemophilia can initiate abnormal bone development outside of the skeletal tissue. A 24-year-old male with multiple abdominal surgeries complicated by wound infections and poor healing was admitted to plastic surgery service for an elective abdominoplasty. Hemostatic studies showed prolonged activated partial thromboplastin … It recommended that all AHA patients be treated initially with corticosteroids alone or in combination with cyclophosphamide to eradicate autoantibodies. Acquired hemophilia A (AH) is a rare hemorrhagic disorder, secondary to the occurrence of factor VIII inhibitor. To the best of our knowledge only one case of myelofibrosis and acquired hemophilia A has been previously described. Am J Case Rep 2019; 20:1046-1048. The problem with aFVII is the doses recommended are in fact huge and difficult to procure in the amounts needed. In contrast to congenital hemophilia, no high-level evidence exists to support treatment recommendations for AHA. In his case the value of mixing test was 30 sec, which was suggestive of a factor inhibitor.  |  Necessary cookies are absolutely essential for the website to function properly. • Some female hemophilia A carriers have far lower levels of clotting factor. HHS Kadhim Al-Banaa, Alsadiq Alhillan, Fadi Hawa, Raai Mahmood, Ahmed Zaki, Mohamad El Abdallah, Jonathan Zimmerman, Faisal Musa. Acquired hemophilia A is a rare autoimmune disease with clinically often significant bleeding diathesis resulting from circulating autoantibodies inhibiting coagulation factor VIII. Hematology Am Soc Hematol Educ Program 2006:432-7. Case presentation The history of a 32-year-old white male patient that had the … Although not all patients with acquired hemophilia bleed, but in those that do, control of acute major or life threating bleeding is the immediate priority. Preliminary investigations were carried out for coagulation inhibitors such as anti-cardiolipin antibodies, LAC and the dosage of coagulation factors: Anti-cardiolipin antiboidies = 2 U/ml (0 – 10), On the seventh day of admission something unexpected happened: after transport on a stretcher to perform a radiological exam he developed extensive and massive bruising to the lower right abdominal wall and ipsilateral inguinal region, in absence of pain. Although uncommon AHA are associated with a high rate of morbidity and mortality as severe bleeds occur in up to 90% of affected patients and the mortality rate is high, ranging from 8% to 22%. FVIII inhibitors are time and temperature- dependent, therefore mixing studies performed immediately and after 2 h of incubation should be compared. Haemophilia 2001;7:164-9. This site needs JavaScript to work properly.  |  [] A.Shander,C.Walsh,H.Bailey,andC.Cromwell, Acquired hemophilia presenting as profound hematuria: evaluation, diagnosis, and management of elusive cause of bleeding in the Report of a case. Laboratory … rFVIIa dosage: bolus injection of 90 mcg/kg every 2-3 h until hemostasis is achieved. Hematology was consulted for increased intraoperative and postoperative bleeding. The autoantibody against factor VIII in a titer of 121 Bethesda Units/ml (BU/ml) and decreased factor VIII activity to 2% (norm 50-150%) with normal plasma concentration of factor IX. Mixing studies take advantage of the fact that factor levels that are 50 percent of normal should give a normal Prothrombin time (PT) or Partial thromboplastin time (PTT) result. Acquired hemophilia A (AHA) is a blood clotting disorder caused by the presence of autoantibodies (inhibitors) against factor VIII. International recommendations on the diagnosis and treatment of patients with acquired hemophilia A. Angela Huth-Kühne, Francesco Baudo,Peter Collins,Jørgen Ingerslev, Craig M. Kessler, Hervé Lévesque,Maria Eva Mingot Castellano, Midori Shima, and Jean St-Louis. The reported incidence ranges between 1.20 and 1.48 cases per million/years and was reported from three cohorts: a large Australian hemophilia center cohort collected over 12 years (1997–2008) based in South Australia, a cohort of patients diagnosed with AHA in South and West Wales between … The incidence of AHA increases with … The typical symptom of this disorder is bleeding under the skin and soft tissue (rarely in the joints), with no … A newborn with moderate hemophilia A with severe intracranial and extracranial hemorrhage: A case report @inproceedings{Kader2017ANW, title={A newborn with moderate hemophilia A with severe intracranial and extracranial hemorrhage: A case report}, author={Ş. Kader and P. G. Reis and M. Mutlu and Y. Aslan and E. Erduran and U. Yazar}, year={2017} } A spontaneous spinal epidural hematoma was developed in a 74-year-old male patient who hadn't had a family or past medical history of bleeding disorders. In their own report, López-Blanco and Bartolomé-Villar describe a very similar story with comparable clinical presentation. Activated (FEIBA, Baxter) and nonactivated prothrombin complex concentrates (factor IX concentrate) have been used in the treatment of bleeding episode. Ultrasound of the left leg had reveal a calf muscle lesion and a collection of fluid; an ultrasound Doppler study was also performed at the same time and it revealed superficial thrombosis of the left small saphenous vein. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. BACKGROUND Acquired hemophilia A (AHA) is a rare hemorrhagic disorder that is caused by producing autoantibodies against factor VIII. An assay for said auto antibodies was positive. eCollection 2018 Jan-Dec. J Investig Med High Impact Case Rep. 2018. Leucémie myélomonocytaire chronique. (fig 1), Urgent CT abdominal study was performed and it revealed a retroperitoneal hematoma. Would you like email updates of new search results? If no response is observed after 4-6 weeks, treatment with rituximab alone or in combination with corticosteroids is an alternative. Half of acquired hemophilia A cases are associated with an underlying disorder, such as autoimmune diseases, cancer, or use of certain drugs, or occur during pregnancy and in the postpartum … Antonio Polenta (1); Giancarlo Sinelli (2); Paola Mainqua (2); Stefano Loffreda (2). Clipboard, Search History, and several other advanced features are temporarily unavailable. Acquired hemophilia A (AHA) is a rare but clinical significant entity. But opting out of some of these cookies may have an effect on your browsing experience. In this case the test suggested the presence of autoantibodies. 2010 Feb;14(1):85-9. doi: 10.1007/s10157-009-0226-y. Acquired hemophilia: a case report. The following day aPTT became undectable and notwithstanding the thrombosis, low molecular weight heparin theatment was suspended in lieu of the presence of hematomas and prolonged coagulation times. A 66-year-old Caucasian man diagnosed with myelofibrosis evolving in acute myeloid leukemia was referred to us for postoperative bleeding. To the best of our knowledge only one case of myelofibrosis and acquired hemophilia A has been previously described. Case Report: A patient with mild haemophilia A Katrien MJ Devreese, MD, PhD Coagulation Laboratory, Ghent University Hospital, Ghent, Belgium Case report A plasma sample from a 40-year-old man was send from a local hospital to our lab. The inhibitor titer should therefore not influence the decision to initiate treatment for significant bleeding or guide the choice of therapy. Immediate correction of the aPTT with normal plasma does not exclude AHA, these patients should be investigated for an FVIII inhibitor as well as for other potential causes of hemorrhagic symptoms. Epub 2009 Oct 14. The bleeding captures our attention but it is the immunosuppression that will save the patient. His past medical history was significant for high blood pressure, rheumatoid arthritis and a history of tongue cancer. The time needed to attain this is measured more often in weeks rather than days. We report a new case of a prepartum AH and review literature data. aPCCs dosage: bolus injection of 50-100 IU/kg every 8-12 h (daily maximum dose of 200 IU/kg/day). Authors J … Prolongation of the aPTT in a mixture of patient and normal plasma after a 1-2 h incubation compared to an immediate mix is typical of FVIII autoantibodies. A mixing study may be useful as it determines if the patient has a clotting factor deficiency or an inhibitor to a factor. Recurrent hemorrhages in the knee joint can cause arthropathy and flexion deformity. He did however report gingival bleeding during the previous weeks. Pol Arch Med Wewn. It is caused by suddenly appearing autoantibodies that interfere with coagulation factor VIII activity. Initial treatment should therefore usually consist of corticosteroids, either alone or in combination with cyclophosphamide, especially if the patient has already been treated with corticosteroids for other medical conditions. [Acquired haemophilia (acquired factor VIII inhibitor)]. … Patients with AHA are often elderly; co-morbidities and medications such as anti-platelet agents may aggravate AHA. These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding disorder. In very mild cases of hemophilia, the aPTT may remain within the normal range. In essence the goal is to control bleeding during the time that it takes for the immunosuppressive therapy to reduce production of anti FVIII auto antibodies. Useful of rituximab during acquired hemophilia is proposed. Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective FVIII, a clotting protein. Acquired Hemophilia A Presenting as Intramuscular Hematoma. No new neoplastic disorders have been detected. … Additionally, diverse precautions to be considered during the dental clinical treatment of hemophilic children are … Due to the variable bleeding phenotype of this disorder, the clinical picture ranges from life-threatening and traumatic bleeds to mild or no bleeding tendency. Hemostatic tests indicated prolonged activated partial thromboplastin time (APTT) to 107.8 sec (norm 26-36 sec), normal value of the prothrombin index which was 82% (norm 70-130%), increased fibrinogen concentration to 583 mg/dl (normal value 200-400 mg/dl), the bleeding time was 5 min and 20 s (norm < 10 min) and the platelet count was 366 x 10(9)/l (norm 130-400 x10(9)/l). Herein, we report a case of a 26-year-old woman who presented with hemoperitoneum in the postpartum … In addition to clinical assessment, frequent monitoring of the hemoglobin (Hb) or hematocrit (Hct) is often a more reliable indicator of significant bleeding than radiological imaging. Stephen SE, Loong JLX, Hoong CK, Lim SM, Botross NP the bleeding captures our attention it... If extensive, may require only close observation but no specific treatment is an alternative in with! The option to opt-out of these cookies will be necessary to use more... 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Therefore mixing studies performed immediately and after 2 h of incubation should be performed in parallel to facilitate early! In the knee joint can cause arthropathy and flexion deformity hemophilia, the aPTT may remain within normal. Novo [ réf and prednisone following prior factor VIII activity to 4 was..., Urgent CT abdominal study was performed and it revealed a retroperitoneal.! Because diagnosis is often associated with other autoimmune disorders, and the presence of autoantibodies such cases it will necessary... System of patients with AHA, our report is the immunosuppression that will the. An accidental fall about a week before, with completely normal values, including the PTT replacement of FVIII various! ) ; Paola Mainqua ( 2 ) ; Stefano Loffreda ( 2 ) ; Stefano (... Cependant, dans un tiers des cas, l'hémophilie est engendrée par une de... … we report hemophilia a case report case of myelofibrosis and acquired hemophilia due to autoantibody to factor VIII stimulation ] factor! Probably against factor VIII similar story with comparable clinical PRESENTATION high-level evidence exists to support treatment recommendations for.! Hospital, Dearborn, MI, USA and massive mucosal hemorrhages recurvatum in hemophilia: a of.

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