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1.
Blood Coagul Fibrinolysis ; 35(2): 62-65, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38179703

ABSTRACT

Glanzmann thrombasthenia is a rare bleeding disorder induced by inherited defects of the platelet membrane αIIbß3 glycoprotein. Glomangiopericytoma, on the other hand, is a very rare sinonasal tumor demonstrating a perivascular myoid phenotype. We herein report the first described case in the literature of Glanzmann thrombasthenia and glomangiopericytoma. The patient is a 40-year-old man diagnosed with type 1 Glanzmann thrombasthenia who presented with repetitive and profuse posterior epistaxis initially managed with platelet transfusions and recombinant activated factor VII (rFVIIa). Due to the unresolved epistaxis, nasal endoscopy was performed revealing a vascularized tumor. Subsequently, a sphenopalatine artery embolization followed by a surgical excision of the tumor was performed. The pathology report diagnosis of the tumor was glomangiopericytoma. This case sheds the lights on a very rare cause of epistaxis in a patient with Glanzmann thrombasthenia, with a challenging multidisciplinary management. A local cause of epistaxis should always be considered even in case of a diagnosed bleeding disorder, especially when the bleeding is recurrent.


Subject(s)
Head and Neck Neoplasms , Thrombasthenia , Male , Humans , Adult , Thrombasthenia/complications , Thrombasthenia/diagnosis , Epistaxis/etiology , Platelet Transfusion/adverse effects , Head and Neck Neoplasms/complications , Platelet Membrane Glycoproteins
2.
Transfusion ; 63(12): 2384-2391, 2023 12.
Article in English | MEDLINE | ID: mdl-37952246

ABSTRACT

BACKGROUND: Glanzmann thrombasthenia (GT) is a rare, autosomal recessive disorder of platelet glycoprotein IIb-IIIa receptors. Pregnant patients with GT are at increased risk of maternal and fetal bleeding. There is a paucity of literature on the peripartum management of patients. CASE DESCRIPTION: We present the antepartum through the postpartum course of a patient with GT who was managed by a multidisciplinary approach that included communication across maternal-fetal medicine, hematology, transfusion medicine, and anesthesiology services. In addition to routine prepartum obstetric imaging and hematologic laboratory studies, we proactively monitored the patient for anti-platelet antibodies every 4-6 weeks to gauge the risk for neonatal alloimmune thrombocytopenia. Furthermore, we prioritized uterotonics, tranexamic acid, and transfusion of HLA-matched platelets to manage bleeding for mother and fetus intrapartum through the postpartum periods. CONCLUSION: To date, there are limited guidelines for managing bleeding or preventing alloimmunization during pregnancy in patients with GT. Here, we present a complex case with aggressive management of bleeding prophylactically for the mother while serially monitoring both mother and fetus for peripartum bleeding risks and events. Moreover, future studies warrant continued evaluation of these approaches to mitigate increased bleeding risks in subsequent pregnancies.


Subject(s)
Pregnancy Complications , Thrombasthenia , Thrombocytopenia, Neonatal Alloimmune , Pregnancy , Infant, Newborn , Female , Humans , Thrombasthenia/complications , Thrombasthenia/therapy , Hemorrhage/complications , Mothers
3.
Blood Coagul Fibrinolysis ; 34(8): 545-548, 2023 Dec 01.
Article in English | MEDLINE | ID: mdl-37942747

ABSTRACT

Glanzmann's Thrombasthenia (GT) is a rare hemorrhagic condition caused by a platelet surface receptor disorder of the glycoprotein (GP) IIb/IIIa. Symptoms of GT are various forms of hemorrhages, such as purpura, epistaxis and menorrhagia. Gastrointestinal bleeding (GIB) is a rare expression of the condition and may occur due to traumas in the GI tract or as a consequence of gastrointestinal angiodysplasia (GIADs). In this case report, we present a middle-aged woman with recurrent GIB consequent to GIADs with persistent melena and iron deficiency anemia. After several unsuccessful therapeutic interventions, the patient was studied by the hereditary hemorrhagic telangiectasia's (HHT - Osler-Weber-Rendu disease) unit, where she received bevacizumab, showing a complete improvement in symptoms as well as a reduction in her GIADs. This case shows that bevacizumab could be a possible line of treatment for patients with coagulation disorders with GIADs.


Subject(s)
Angiodysplasia , Blood Platelet Disorders , Menorrhagia , Thrombasthenia , Humans , Middle Aged , Female , Thrombasthenia/complications , Thrombasthenia/drug therapy , Bevacizumab/therapeutic use , Platelet Glycoprotein GPIIb-IIIa Complex , Menorrhagia/etiology , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Hemorrhage/complications , Rare Diseases/complications , Angiodysplasia/complications , Angiodysplasia/drug therapy
6.
Rev Esp Enferm Dig ; 115(3): 149, 2023 03.
Article in English | MEDLINE | ID: mdl-35899703

ABSTRACT

The major function of platelets is to contribute to hemostasis. If an impairment in their production and/or function occurs, abnormal bleeding can develop. An 18-year-old male presented to our hospital after four episodes of hematemesis. His medical history was relevant for Glanzmann thrombasthenia diagnosed during early childhood. On initial examination, he appeared pale and with normal blood pressure. His complete blood count included a hemoglobin concentration of 11.0 g/dL, additional laboratory tests were within the normal ranges. The initial approach consisted of a high dose of proton pump inhibitors. Hours later, esophagogastroduodenoscopy revealed diffuse oozing bleeding from gastric mucosa with no other visible lesions such as peptic ulcers or varices.


Subject(s)
Peptic Ulcer , Thrombasthenia , Male , Humans , Child, Preschool , Adolescent , Thrombasthenia/complications , Thrombasthenia/diagnosis , Gastrointestinal Hemorrhage/etiology , Gastrointestinal Hemorrhage/diagnosis , Hematemesis/etiology , Acute Disease
8.
Indian J Dent Res ; 33(2): 219-222, 2022.
Article in English | MEDLINE | ID: mdl-36254965

ABSTRACT

The Rationale: Glanzmann thrombasthenia is a rare platelet disorder affecting 0.0001% of the population. Dentists may often be unaware of this condition, and manipulation of soft tissue can lead to grave consequences, which may even result in fatality. Patient Concerns: In this case report, a 4-year-old patient with Glanzmann thrombasthenia reported to the department with a chief complaint of a discoloured tooth. Clinical Findings: On examination, 51 was nonvital, and pulpectomy was the treatment planned. The non-vital anterior tooth was treated with a pulpectomy procedure. There was uncontrolled bleeding during the procedure. Treatment: A topical solution of BotroClot was used to arrest the bleeding, and obturation was completed following that. The post-operative period was uneventful. Take-away Lessons: Case report explored the use of a topical hemostatic agent to arrest bleeding from the canal. This case report warrants eliciting a thorough medical history before any dental procedure.


Subject(s)
Hemostatics , Thrombasthenia , Batroxobin , Child, Preschool , Hemorrhage/etiology , Hemostatics/therapeutic use , Humans , Thrombasthenia/complications , Thrombasthenia/diagnosis , Tooth, Deciduous
9.
Haemophilia ; 28(4): 633-641, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35412688

ABSTRACT

INTRODUCTION: Frequent and severe bleeding events (SBE) in patients with inherited qualitative platelet disorders Bernard-Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) can lead to secondary iron deficiency anemia (IDA). SBE are primarily treated with platelet transfusions or recombinant activated factor VII (rFVIIa) infusions. The impact of IDA on bleeding management and disease outcomes is understudied. AIM: To evaluate bleeding management, outcomes, and any association with IDA in pediatric patients with BSS and GT. METHODS: Retrospective chart-review of pediatric patients with BSS or GT followed at a single hemophilia treatment center between 2007 and 2019. RESULTS: We identified 14 patients with BSS (n = 2) or GT (n = 12). Patients received rFVIIa (7%), platelet transfusions (7%), or a combination of both (57%) for SBE. Eleven patients (79%) had IDA requiring oral and/or intravenous iron replacement and 50% required red blood cell transfusions. Due to recurrent SBE and refractory IDA, three patients (21%) received rFVIIa prophylaxis at 90 µg/kilogram 2-3 times/week for ≥15 months. Patients initiated on rFVIIa prophylaxis had a median baseline hemoglobin of 9.8 g/dL (min-max: 8.0-10.7 g/dL) compared to 11.7 g/dL (8.4-13.8 g/dL) for patients treated on-demand. Following initiation of rFVIIa prophylaxis, median hemoglobin and ferritin increased by 1.3 g/dL (0.7-2.5 g/dL) and 14.6 ng/mL (0.2-42.9 ng/mL), respectively, and bleeding rates were reduced by 7-78%. CONCLUSION: IDA is a known complication of recurrent bleeding events in individuals with inherited bleeding disorders. Routine monitoring for IDA may help improve bleeding management and reduce bleed burden in BSS/GT.


Subject(s)
Anemia , Bernard-Soulier Syndrome , Blood Platelet Disorders , Hemophilia A , Iron Deficiencies , Thrombasthenia , Anemia/complications , Blood Platelet Disorders/complications , Child , Hemophilia A/drug therapy , Hemorrhage/complications , Hemorrhage/prevention & control , Humans , Recombinant Proteins/therapeutic use , Retrospective Studies , Thrombasthenia/complications
12.
Braz J Anesthesiol ; 72(6): 823-825, 2022.
Article in English | MEDLINE | ID: mdl-34852265

ABSTRACT

Glanzmann's Trombasthenia (GT) is a genetic disorder, that develops with a tendency toward bleeding and is characterized by the absence or decrease in platelet aggregation. Surgical bleeding may be difficult to control. Platelet transfusion is the main treatment, albeit refractoriness can occur. We describe the case of a patient with GT and platelet refractoriness, who was submitted to radical prostatectomy and dental extraction. The perioperative treatment with apheresis platelet concentrate and activated recombinant factor seven allowed the procedures to be performed uneventfully. We discuss the complexity of the case and the treatment option.


Subject(s)
Thrombasthenia , Male , Humans , Thrombasthenia/complications , Thrombasthenia/surgery , Factor VIIa/therapeutic use , Platelet Transfusion , Hemorrhage
13.
Blood Coagul Fibrinolysis ; 32(5): 349-351, 2021 Jul 01.
Article in English | MEDLINE | ID: mdl-33878047

ABSTRACT

Glanzmann thrombasthenia is an inherited disease causing bleeding episodes due to platelet dysfunction. The standard treatment for moderate-severe bleeding is platelet transfusion. Recombinant factor VIIa (rFVIIa) is successfully used in bleeding episodes and invasive procedures. Here, we present a patient with Glanzmann thrombasthenia, whose bleeding episodes could only be controlled by rFVIIa. The patient is a 28 years old male, who has had frequent bleeding episodes unresponsive to local hemostatic agents and tranexamic acid and had an anaphylactoid reaction to platelet transfusion. We started the patient on a low-dose (20 µg/kg) rFVIIa once a week. The patient has no spontaneous bleeding since then. This is the first case report of a Glanzmann thrombasthenia patient on routine prophylaxis with low-dose rFVIIa.


Subject(s)
Factor VIIa/therapeutic use , Hemorrhage/etiology , Hemorrhage/prevention & control , Thrombasthenia/complications , Adult , Dose-Response Relationship, Drug , Factor VIIa/administration & dosage , Humans , Male , Recombinant Proteins/administration & dosage , Recombinant Proteins/therapeutic use
14.
J Pediatr Hematol Oncol ; 43(8): e1120-e1123, 2021 11 01.
Article in English | MEDLINE | ID: mdl-33625096

ABSTRACT

Glanzmann thrombasthenia is a rare congenital thrombocytopathy. The first-line treatment in severe life-threatening bleeding is a transfusion of platelet concentrate or recombinant factor VIIa in the case of platelet transfusion refractoriness. We present the case of a 16-year-old boy with Glanzmann thrombasthenia who was admitted to hospital with severe bleeding into the quadriceps femoris muscle. At the age of 15 years, he was hospitalized again because of chronic bleeding into the right ankle joint, resulting in joint destruction. Here we give a scheme of management and treatment of this patient. Hemostatic therapy followed by radiosynovectomy of the right ankle joint and introduction of secondary preventive treatment with recombinant factor VIIa proved to be efficacious and safe.


Subject(s)
Factor VIIa/administration & dosage , Hemorrhage/prevention & control , Quadriceps Muscle/pathology , Thrombasthenia/complications , Adolescent , Hemorrhage/etiology , Hemorrhage/pathology , Humans , Male , Prognosis , Recombinant Proteins/administration & dosage
15.
Thromb Haemost ; 121(3): 332-340, 2021 Mar.
Article in English | MEDLINE | ID: mdl-33124022

ABSTRACT

Platelet transfusion is the standard treatment to control or prevent bleeding in patients with Glanzmann's thrombasthenia (GT), but platelets are often unavailable. Recombinant activated factor VII (rFVIIa) is an effective alternative to platelets in patients with GT with past/present refractoriness to platelet transfusions and antibodies to platelets. However, there is an unmet need for an alternative to platelets in patients without antibodies. This report summarizes evidence of efficacy and safety of rFVIIa in patients with GT without refractoriness or antibodies to platelets from three different sources: the Glanzmann's Thrombasthenia Registry (GTR), published literature (January 01, 1999 to December 01, 2017), and the Novo Nordisk safety surveillance database. In the GTR, 133 patients received rFVIIa for the treatment of 333 bleeding episodes and prevention of bleeding in 157 surgical procedures. Overall efficacy rates were 79 and 88%, respectively, in patients treated for bleeding episodes or for the prevention of bleeding during surgery; effectiveness was generally similar across refractoriness/antibody status categories. Median dose per infusion of rFVIIa was close to that recommended for patients with GT (90 µg/kg). Data from 14 published case reports also demonstrated that rFVIIa is effective with an acceptable safety profile in patients with GT without antibodies to platelets. Analysis of adverse events reported in GTR and in Novo Nordisk safety surveillance database did not raise any new safety concerns. These data supported the label extension of rFVIIa to include cases where platelets are not readily available, which was approved by the European Medicines Agency in December 2018.


Subject(s)
Factor VIIa/therapeutic use , Thrombasthenia/drug therapy , Adolescent , Adult , Child , Factor VIIa/adverse effects , Female , Hemorrhage/etiology , Hemorrhage/prevention & control , Humans , Male , Prospective Studies , Recombinant Proteins/adverse effects , Recombinant Proteins/therapeutic use , Registries , Thrombasthenia/complications , Treatment Outcome , Young Adult
16.
Platelets ; 32(2): 288-291, 2021 Feb 17.
Article in English | MEDLINE | ID: mdl-32200672

ABSTRACT

Gastrointestinal angiodysplasia (GIA) is the most common cause of occult gastrointestinal bleeding (GIB) requiring often hospitalization and transfusions, especially in patients with hemorrhagic disorders. Thalidomide, impairing neo-angiogenesis, has been successfully used in the management of bleeding in patients with GIA and in particular in patients with inherited bleeding disorders. Only one case of short-term treatment with thalidomide in a patient with Glanzmann thrombasthenia (GT) and recurrent GIB due to GIA has been reported so far.We report the case of a woman with GT developing high frequency recurrent GIB due to GIA requiring repeated blood and platelet transfusions, who was treated with thalidomide obtaining a striking and stable reduction of GIB and of the requirement of platelet and blood transfusions for over 5 years. Moreover, we raise the suspicion that the association between GT and GIA may not be fortuitous.


Subject(s)
Angiodysplasia/complications , Angiodysplasia/drug therapy , Thalidomide/therapeutic use , Thrombasthenia/complications , Thrombasthenia/drug therapy , Aged , Female , Humans , Thalidomide/pharmacology
17.
Blood Coagul Fibrinolysis ; 32(2): 155-158, 2021 Mar 01.
Article in English | MEDLINE | ID: mdl-33196513

ABSTRACT

Glanzmann's thrombasthenia is a rare inherited autosomal recessive bleeding disorder caused by platelet dysfunction. Adolescent girls with Glanzmann's thrombasthenia may experience problematic heavy menstrual bleeding beginning at menarche; this can be difficult to manage. Here, we report the case of an 11-year-old girl with Glanzmann's thrombasthenia who presented with heavy menstrual bleeding at menarche, which was difficult to control. The vaginal bleeding persisted and did not respond to a treatment with packed red blood cells (16 U total), platelet concentrates (70 U total), or administration (>50 doses) of recombinant activated factor VII (rFVIIa). Eventually, a combination of rFVIIa and hormonal therapy (a combined oral contraceptive pill) was introduced. The bleeding stopped at nearly 1 month from onset of menarche. Thereafter, the condition was managed by monthly subcutaneous administration of a GnRH agonist. Management of severe menorrhagia in adolescent patients with Glanzmann's thrombasthenia requires close collaboration with gynecologists or adolescent medicine specialists. More clinical studies are required to identify an effective combination of rFVIIa and hormonal therapy for this condition.


Subject(s)
Menorrhagia/etiology , Menorrhagia/therapy , Thrombasthenia/complications , Child , Contraceptives, Oral/therapeutic use , Erythrocyte Transfusion , Factor VIIa/therapeutic use , Female , Humans , Menarche , Platelet Transfusion , Recombinant Proteins/therapeutic use
19.
J Pak Med Assoc ; 70(6): 1084-1085, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32810113

ABSTRACT

We report peri- and post-operative management of haemostasis in a 11-year old girl with Glanzmann Thrombasthenia (GT) who had feminizing genitoplasty for genital ambiguity due to Congenital Adrenal Hyperplasia (CAH-21 Hydroxylase deficiency). A blend of Glanzmann Thrombasthenia (GT) and DSD 46XX due to CAH is not reported in literature. Surgery particularly genitourinary reconstruction in patients with GT is challenging due to risk of intra and post-operative bleeding. Haemostasis can successfully be achieved with platelet transfusions, antifibrinolytic (Tranexamic acid) and judicious use of recombinant factor VIIa (rFVIIa) even in a resource limited setting.


Subject(s)
Thrombasthenia , Child , Female , Hemostasis , Humans , Platelet Transfusion , Postoperative Hemorrhage , Recombinant Proteins , Thrombasthenia/complications , Thrombasthenia/therapy
20.
J Pediatr Adolesc Gynecol ; 33(5): 489-493, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32610148

ABSTRACT

STUDY OBJECTIVE: To assess the treatment patterns and efficacy of hormonal (HM) and non-HM (NHM) management of heavy menstrual bleeding (HMB) in young women with inherited platelet function disorders (IPFDs). DESIGN, SETTING, AND PARTICIPANTS: A retrospective chart review was performed of outpatient treatment of HMB in female patients age 9-25 years who were diagnosed with IPFDs and referred to gynecology and/or hematology at a tertiary care hospital between 2006 and 2018. INTERVENTIONS: The study sample was identified using billing codes for IPFDs. Data on HM and NHM treatments and outcomes over a one- to two-year period were collected. Initial treatment was defined as the first treatment prescribed after referral. Descriptive statistics, Pearson χ2, and t tests were used for analysis. MAIN OUTCOME MEASURES: Treatment failure was defined as a change in treatment method because of continued bleeding. RESULTS: Thirty-four girls met inclusion criteria. After their initial visit, 19/34 (56%) were treated with HM, 12/34 (35%) with NHM, 2/34 (6%) with a combination of methods, and 1/34 (3%) were untreated. Initial treatment failed in 19/34 (56%) and those patients subsequently required a mean of 2 additional treatments during follow-up. Of the 34 included, 6/34 (18%) remained uncontrolled despite numerous treatment changes and 2/34 (6%) because of noncompliance. When control was achieved, 7/26 (27%) of patients were receiving combined oral contraceptives and 6/26 (23%) desmopressin acetate. CONCLUSION: HMB in girls with IPFDs can be difficult to control despite ongoing follow-up and treatment changes. Although the most effective treatment for HMB in young women with IPFDs was not identified, these findings will help providers and patients with setting expectations. Prospective studies are needed to develop recommendations on best practices.


Subject(s)
Antifibrinolytic Agents/therapeutic use , Contraceptives, Oral, Combined/therapeutic use , Contraceptives, Oral, Hormonal/therapeutic use , Menorrhagia/drug therapy , Adolescent , Adult , Ambulatory Care/statistics & numerical data , Female , Humans , Menorrhagia/etiology , Prospective Studies , Retrospective Studies , Thrombasthenia/complications , Treatment Failure , Young Adult
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