Glanzmann’s thrombasthenia: a rare bleeding disorder in a Nigerian girl

Ezenwosu, Osita U; Chukwu, BF; Uwaezuoke, Ndubuisi A; Ezenwosu, Ifeyinwa L; Ikefuna, AN; Emodi, IJ

doi:10.4314/ahs.v20i2.27

Cited by 4 publications

(3 citation statements)

References 15 publications

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“…(A) Depo-medroxyprogesterone acetate (DMPA) [43,47], (B) HPO axis suppression (leuprolide and goserelin) [44,48], and (C) LNG-IUS [49].…”

Section: Treatment Options For Hmbmentioning

confidence: 99%

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age

Kontogiannis,

Matsas,

Valsami

et al. 2023

JCM

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Heavy menstrual bleeding (HMB) is a common clinical condition affecting adolescent and adult women and compromising their quality of life. Primary hemostasis disorders, affecting platelet plug formation, can be the underlying cause of HMB. They comprise a heterogeneous group of diseases with Von Willebrand disease (VWD) being the most commonly diagnosed; other disorders in this group that have been linked to HMB include (a) Glanzmann thrombasthenia, (b) Bernard–Soulier syndrome, (c) Hermansky–Pudlak syndrome, (d) immune thrombocytopenia (ITP), and (e) Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). Diagnosing these diseases can be challenging, as the basic laboratory investigations can be within the normal range. Thus, identification of specific clinical features and a thorough hematologic workup can be very important, providing the correct diagnosis. Proper diagnosis of the underlying disorder is important, as management may vary accordingly. Although disease-specific management guidelines exist for some of these disorders such as VWD and ITP, due to the rarity of most primary hemostasis disorders, the best approach for the management of HMB in these women remains elusive. The goal of this study was to create an informative, comprehensive review of the primary hemostasis disorders that have been linked to HMB. This study provides a summary of the basic published information regarding epidemiology, pathophysiology, clinical phenotype, diagnosis, and treatment of HMB in those diseases and serves as a reference guide for further reading.

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“…(A) Depo-medroxyprogesterone acetate (DMPA) [43,47], (B) HPO axis suppression (leuprolide and goserelin) [44,48], and (C) LNG-IUS [49].…”

Section: Treatment Options For Hmbmentioning

confidence: 99%

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age

Kontogiannis,

Matsas,

Valsami

et al. 2023

JCM

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“…138 The prevalence of GT is estimated to be 1 in 1,000,000; it is commonly seen in areas where consanguineous marriage is widespread. 139 On the basis of GPIIb/IIIa levels, GT is classified as follows:…”

Section: Gib In Glanzmann Thrombastheniamentioning

confidence: 99%

Gastrointestinal Bleeding in Congenital Bleeding Disorders

Samii

Norouzi

Ahmadi

et al. 2022

Semin Thromb Hemost

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Gastrointestinal bleeding (GIB) is serious, intractable, and potentially life-threatening condition. There is considerable heterogeneity in GIB phenotypes among congenital bleeding disorders (CBDs), making GIB difficult to manage. Although GIB is rarely encountered in CBDs, its severity in some patients makes the need for a comprehensive and precise assessment of underlying factors and management approaches imperative. Initial evaluation of GIB begins with assessment of hematological status; GIB should be ruled out in patients with chronic anemia, and in presentations that include hematemesis, hematochezia, or melena. High-risk patients with recurrent GIB require urgent interventions such as replacement therapy for treatment of coagulation factor deficiency (CFD). However, the best management strategy for CFD-related bleeding remains controversial. While several investigations have identified CBDs as potential risk factors for GIB, research has focused on assessing the risks for individual factor deficiencies and other CBDs. This review highlights recent findings on the prevalence, management strategies, and alternative therapies of GIB related to CFDs, and platelet disorders.

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“…Glanzmann thrombasthenia (GT) is an autosomal recessive inherited platelet aggregation disorder caused by defects in the expression of platelet glycoprotein (GP) IIb/IIIa (integrin αIIbβ3), a platelet membrane receptor, suppressing platelet activation in response to agonists such as ADP, collagen, or thrombin [1,2]. The prevalence of this rare inherited disorder is measured to be 1:1,000,000, while it is slightly prominent in women (58%) compared to men (42%) [3,4]. Meanwhile, this value is estimated to be up to five times higher in the Middle East.…”

Section: Introductionmentioning

confidence: 99%

Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature

Rokhgireh

Mehdizadehkashi

Chaichian

et al. 2023

Orphanet J Rare Dis

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Background Glanzmann thrombasthenia (GT) is a rare bleeding disorder with a high prevalence in communities where consanguineous marriages are mainstream. Endometriosis is a chronic inflammatory disease, and its risk increases in women with menstrual periods of longer than six days. The phenotypic expression of endometriosis is determined by the frequency and rate of the menstrual flow, as well as genetic and environmental factors. Result and case presentation 14-year-old monozygotic twin sisters with GT who developed ovarian endometriosis were referred to Hazrat Rasoul Hospital due to severe dysmenorrhea. In ultrasonic examination, endometrioma cysts were reported in both patients. They both went under endometrioma cystectomy, and the bleeding was managed using antifibrinolytic drugs, followed by recombinant activated coagulation factor VII. Both were discharged after 3 days. In the ultrasound examination performed one year after the surgery, ovaries were normal in the first twin, while the second twin had a 28 × 30 hemorrhagic cyst in the left ovary. Discussion and conclusion Menstrual bleeding and genetic factors are two theories that could be related to GT and endometriosis association, and GT could be considered a risk factor for endometriosis.

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Glanzmann’s thrombasthenia: a rare bleeding disorder in a Nigerian girl

Cited by 4 publications

References 15 publications

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age

Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age

Gastrointestinal Bleeding in Congenital Bleeding Disorders

Monozygotic twin cases of endometriosis with Glanzmann thrombasthenia: a case report and review of literature

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