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Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.

ABSTRACT: Gray platelet syndrome (GPS) is a rare hereditary hemorrhagic disorder characterized by macrothrombocytopenia and the absence of alpha-granules in platelets. Clinically, mild-to-moderate bleeding is the main manifestation, often accompanied by thrombocytopenia, splenomegaly, and myelofibrosis. Here, we present a case of a 15-year-old male patient with a history of hepatosplenomegaly, and thrombocytopenia for 8 years, who presented with sudden generalized abdominal pain. Despite initial suspicion of gastroenteritis, diagnostic imaging revealed an extensive hemoperitoneum. Subsequent genetic testing confirmed the diagnosis of GPS, which had not been previously identified. This case highlights the importance of considering inherited platelet disorders should be considered in adolescents with long-standing thrombocytopenia, and emphasizes the need for thorough evaluation in patients with suggestive symptoms.

SUBMITTER: Barghouthi DI

PROVIDER: S-EPMC10472819 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature

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Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.

Barghouthi Duha I DI Abu-Hilal Lila H LH Njoum Yumna Y Hasan Abeer Dar AD Alshawwa Khaled K Hourani Fadi F

Journal of investigative medicine high impact case reports 20230101

Gray platelet syndrome (GPS) is a rare hereditary hemorrhagic disorder characterized by macrothrombocytopenia and the absence of alpha-granules in platelets. Clinically, mild-to-moderate bleeding is the main manifestation, often accompanied by thrombocytopenia, splenomegaly, and myelofibrosis. Here, we present a case of a 15-year-old male patient with a history of hepatosplenomegaly, and thrombocytopenia for 8 years, who presented with sudden generalized abdominal pain. Despite initial suspicion ...[more]

PMID: 37649376

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Project description:BackgroundSplenic rupture associated with trauma is common within the population, however, spontaneous splenic rupture is noted to be a rarity in clinical practice. Spontaneous splenic rupture is usually associated with hematologic, neoplastic, or infectious disorders, with infectious mononucleosis associated with Epstein-Barr virus being the most common cause worldwide. Spontaneous splenic rupture without underlying cause is thought to be exceedingly rare. In this article we present a case involving a true spontaneous splenic rupture.Case descriptionWe present the case of a 73-year-old female with past medical history significant for hypothyroidism, hypertension, squamous cell carcinoma of the chest, and history of tobacco use who presented to the emergency department with acute onset of left-sided flank pain radiating to her shoulder beginning three days prior. Computed tomography of the abdomen and pelvis without contrast revealed an acute splenic injury concerning for rupture with contour obscured by blood products with associated mild to moderate hemoperitoneum. The decision was made to proceed with emergent exploratory laparotomy and splenectomy. Patient received her post splenectomy vaccinations. On follow-up appointment, patient was noted to be doing well.ConclusionsThis case highlights the importance of early diagnosis and treatment of atraumatic splenic rupture, as delayed diagnosis and treatment is associated with significant morbidity and mortality. Operative intervention including splenectomy remains the mainstay of treatment, in addition to appropriate resuscitation. Some authors have reported cases in which hemodynamically stable patients are able to be treated non-operatively, however, the long-term consequences are unknown. Atraumatic spontaneous splenic rupture is often low on the differential diagnoses due to its rarity. Unfortunately, it carries a high risk of morbidity and mortality, and thus timely diagnosis and intervention is imperative.

Dataset Information

Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.

Publications

Gray Platelet Syndrome-Unusual Presentation with Spontaneous Splenic Rupture: A Case Report and Literature Review.

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