Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia

Cid, Ana Rosa; Montesinos, Pau; Sánchez-Guiu, Isabel; Haya, Saturnino; Lorenzo, José Ignacio; Sanz, Jaime; Moscardó, Federico; Puig, Nieves; Planelles, Dolores; Bonanad, Santiago; Sanz, Guillermo; Vicente, Vicente; González-Manchón, Consuelo; Lozano, Marı́a Luisa; Rivera, José; Sanz, Miguel Á.

doi:10.1002/ccr3.1206

Cited by 9 publications

(9 citation statements)

References 19 publications

(28 reference statements)

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“…Considering the high morbidity (especially graft-versus-host disease) and mortality, the risk-benefit analysis of performing allo-HSCT must be consideren on an individualized basis. In the event that it is contemplated, allo-HSCT is best carried out in childhood because of the lower risk of related complications [ 1 , 5 , 164 , 165 , 170 , 176 ].…”

Section: Management Of Patients With Inherited Platelet Disordersmentioning

confidence: 99%

Inherited Platelet Disorders: An Updated Overview

Palma-Barqueros

Revilla

Sánchez

et al. 2021

IJMS

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Platelets play a major role in hemostasis as ppwell as in many other physiological and pathological processes. Accordingly, production of about 1011 platelet per day as well as appropriate survival and functions are life essential events. Inherited platelet disorders (IPDs), affecting either platelet count or platelet functions, comprise a heterogenous group of about sixty rare diseases caused by molecular anomalies in many culprit genes. Their clinical relevance is highly variable according to the specific disease and even within the same type, ranging from almost negligible to life-threatening. Mucocutaneous bleeding diathesis (epistaxis, gum bleeding, purpura, menorrhagia), but also multisystemic disorders and/or malignancy comprise the clinical spectrum of IPDs. The early and accurate diagnosis of IPDs and a close patient medical follow-up is of great importance. A genotype–phenotype relationship in many IPDs makes a molecular diagnosis especially relevant to proper clinical management. Genetic diagnosis of IPDs has been greatly facilitated by the introduction of high throughput sequencing (HTS) techniques into mainstream investigation practice in these diseases. However, there are still unsolved ethical concerns on general genetic investigations. Patients should be informed and comprehend the potential implications of their genetic analysis. Unlike the progress in diagnosis, there have been no major advances in the clinical management of IPDs. Educational and preventive measures, few hemostatic drugs, platelet transfusions, thrombopoietin receptor agonists, and in life-threatening IPDs, allogeneic hematopoietic stem cell transplantation are therapeutic possibilities. Gene therapy may be a future option. Regular follow-up by a specialized hematology service with multidisciplinary support especially for syndromic IPDs is mandatory.

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Section: Management Of Patients With Inherited Platelet Disordersmentioning

confidence: 99%

Inherited Platelet Disorders: An Updated Overview

Palma-Barqueros

Revilla

Sánchez

et al. 2021

IJMS

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“…17,18 Hematopoietic stem cell transplantation is the only possible cure for GT at present, though a few successful cases have been reported. 19…”

Section: Discussionmentioning

confidence: 99%

“…17,18 Hematopoietic stem cell transplantation is the only possible cure for GT at present, though a few successful cases have been reported. 19 In summary, spontaneous upper gastrointestinal bleeding in patients with GT is a relatively rare but severe situation requiring emergency intervention. Early diagnosis and treatment is important and can lead to a better prognosis.…”

Section: Discussionmentioning

confidence: 99%

Glanzmann’s thrombasthenia with spontaneous upper gastrointestinal bleeding: a case report

Qiao¹,

Chen²,

Shi³

et al. 2020

J Int Med Res

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Glanzmann's thrombasthenia (GT) is a rare bleeding disorder inherited in an autosomal recessive manner. The pathogenesis of GT mainly involves structural abnormalities and dysfunction of platelet membrane glycoprotein IIb/IIIa (integrin aIIbb3). The most common symptoms of GT are various types of bleeding, including recurrent nasal bleeding, mucocutaneous bleeding, unremitting bleeding after injury or operation, and menorrhea in women. Such hemorrhage may be fatal in some patients. GT with spontaneous upper gastrointestinal bleeding is relatively rare. In the present report, we describe a middle-aged man who was hospitalized with spontaneous upper gastrointestinal bleeding. His main symptom was recurrent chronic and intermittent melena. Gastroscopy revealed oozing of blood in the gastric antrum wall. However, no obvious lesions such as erosion or ulceration were found. Upon further inspection, we found that the patient's platelet aggregation was poor, and flow cytometry assay revealed low expression of platelet membrane integrin aIIbb3. The patient was eventually diagnosed with GT and exhibited clinical improvement after active treatment.

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“…HSCT is the treatment of choice for the most severe forms of ITs that endanger the lives of patients. It has been successfully used in children with WAS, CAMT and more recently in gray platelet syndrome (GPS) or GT [ 40 , 41 , 42 ]. However, a careful evaluation of the risk–benefit ratio must always be made [ 33 ].…”

Section: Pathogenesis Diagnosis and General Management Of Itmentioning

confidence: 99%

Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia

Bastida

González‐Porras

Rivera

et al. 2021

IJMS

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In the last decade, improvements in genetic testing have revolutionized the molecular diagnosis of inherited thrombocytopenias (ITs), increasing the spectrum of knowledge of these rare, complex and heterogeneous disorders. In contrast, the therapeutic management of ITs has not evolved in the same way. Platelet transfusions have been the gold standard treatment for a long time. Thrombopoietin receptor agonists (TPO-RA) were approved for immune thrombocytopenia (ITP) ten years ago and there is evidence for the use of TPO-RA not only in other forms of ITP, but also in ITs. We have reviewed in the literature the existing evidence on the role of TPO-RAs in ITs from 2010 to February 2021. A total of 24 articles have been included, 4 clinical trials, 3 case series and 17 case reports. A total of 126 patients with ITs have received TPO-RA. The main diagnoses were Wiskott–Aldrich syndrome, MYH9-related disorder and ANKRD26-related thrombocytopenia. Most patients were enrolled in clinical trials and were treated for short periods of time with TPO-RA as bridging therapies towards surgical interventions, or other specific approaches, such as hematopoietic stem cell transplantation. Here, we have carried out an updated and comprehensive review about the efficacy and safety of TPO-RA in ITs.

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Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia

Cited by 9 publications

References 19 publications

Inherited Platelet Disorders: An Updated Overview

Inherited Platelet Disorders: An Updated Overview

Glanzmann’s thrombasthenia with spontaneous upper gastrointestinal bleeding: a case report

Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia

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