Case report of Grey Platelet Syndrome in pregnancy

Agarwal, Nidheesh; Willmott, Fredric; Bowles, Louise; Pasi, K. J.; Beski, S.

doi:10.1111/j.1365-2516.2011.02535.x

Cited by 3 publications

(5 citation statements)

References 6 publications

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“…Gray platelet syndrome is characterized by the reduction or absence of platelet granules and associated proteins. 4 Typically, patients with GPS present in early adolescence or infancy, exhibiting bleeding tendencies, severe bleeding episodes, moderate thrombocytopenia, and the presence of excessively large agranular platelets on peripheral blood film examination. Notably, the almost complete absence of α-granules serves as a defining feature of GPS.…”

Section: Discussionmentioning

confidence: 99%

“…Notably, the almost complete absence of α-granules serves as a defining feature of GPS. 4 Platelet granules and their contents play a crucial role in hemostasis. 5 Normal platelets contain 6 types of granules, including dense granules, lysosomes, and peroxisomes, each serving distinct functions.…”

Section: Discussionmentioning

confidence: 99%

“…Additional protein analysis of GPS patients' platelets shows significant decreases in PDGF, TSP, and fibrinogen. 4 Neurobeachin-like 2 (NBEAL2) homozygosity for loss of function mutations is the causative pathogenesis of GPS. Most GPS-associated NBEAL2 mutations generate nonsense codons; frameshifts causing premature translation termination and/or changes in mRNA splicing was also reported, however, due to the rarity of this condition, data regarding NBEAL2 protein expression in GPS patients is very scarce.…”

Section: Discussionmentioning

confidence: 99%

“…Additional protein analysis of GPS patients’ platelets shows significant decreases in PDGF, TSP, and fibrinogen. 4…”

Section: Discussionmentioning

confidence: 99%

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

Barghouthi,

Abu-Hilal,

Njoum

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Additional protein analysis of GPS patients’ platelets shows significant decreases in PDGF, TSP, and fibrinogen. 4…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

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

Barghouthi,

Abu-Hilal,

Njoum

et al. 2023

Journal of Investigative Medicine High Impact Case Reports

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“…72,73 In the absence of hemostatic cover, no episodes of APH were observed in 10 pregnancies (seven women) with platelet-type VWD, although worsening thrombocytopenia was described in five pregnancies (50%) of five women. 70,[74][75][76] Similarly, no cases of APH were reported in seven pregnancies (four women) with Gray platelet syndrome, 70,77,78 though a single unit of leuko-reduced platelets was provided in one pregnancy at 34 weeks for progressive thrombocytopenia. 78 Finally, a systematic review of pregnancies with Hermansky-Pudlak syndrome did not observe any APH events in 29 pregnancies (15 women).…”

Section: Risk Of Antepartum Bleedingmentioning

confidence: 99%

Planning Pregnancy and Birth in Women with Inherited Bleeding Disorders

Malinowski

Abdul‐Kadir

2022

Semin Thromb Hemost

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Inherited bleeding disorders are characterized by a diverse clinical phenotype within and across specific diagnoses. von Willebrand disease (VWD), hemophilia A, and hemophilia B comprise 95 to 97% of inherited bleeding disorders, with the remaining 3 to 5% attributed to rare bleeding disorders, including congenital fibrinogen disorders, factor deficiencies (affecting FII, FV, FV + FVIII, FVII, FX, FXI, and FXIII), and platelet function defects. The pregnancy, birth, and the puerperium may be adversely influenced in the setting of an inherited bleeding disorder depending on its type and clinical phenotype. Obstetric hemostatic challenges may sometimes also unmask the presence of a previously unknown inherited bleeding disorder. This review aims to address the approach to pregnancy and birth in the context of an inherited bleeding disorder and highlights the significance of multidisciplinary input into the care of these women.

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