Glanzmann thrombasthenia is a bleeding disorder with a low incidence. It typically manifests as superficial bleeding episodes, which tend to be mild. Deep organ involvement is not uncommon but remains rare due to the rarity of the disease itself and the unusual association between platelet disorders and deep organ implications. A 17-year-old boy with Glanzmann thrombasthenia since infancy developed ankle pain after a minor trauma. His initial workup was negative, but he continued to experience ankle pain. A magnetic resonance imaging (MRI) done after four weeks suggested siderotic synovitis. The patient was lost to follow-up after that and returned after two years with recurrent left ankle pain. Imaging and studies have shown evidence of chronic arthropathy. A specialized orthopedic team assessed the patient. The patient underwent intra-articular steroid injection for pain relief and was referred to continue physical therapy. In conclusion, hemarthrosis is more common in hemophilia than in platelet disorders and has potential morbidity and quality-of-life implications.
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http://dx.doi.org/10.2147/JBM.S418937 | DOI Listing |
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFJ Family Med Prim Care
November 2024
Department of Basic Science College of Medicine, Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia.
Background: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.
View Article and Find Full Text PDFRes Pract Thromb Haemost
November 2024
University of Strasbourg, Faculty of Dental Surgery, Strasbourg, France.
Background: Glanzmann thrombasthenia (GT) is a very rare autosomal inherited bleeding disease affecting megakaryocyte lineage with impacts on oral health such as gingival bleeding, which requires specific management protocols. Very few clinical cases have been published in the dental and hematologic literature.
Objectives: This study focuses on a series of 21 patients affected specifically by GT and their hemorrhagic prophylaxis management with the use of recombinant activated factor VII (rFVIIa) for dental extractions and full-mouth debridement.
J Med Cases
December 2024
Madinah Hereditary Blood Disorders Centre, Department of Hematology and Oncology, King Salman Bin Abdulaziz Medical City, Madinah, Saudi Arabia.
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