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Clinicopathological Features of Rare Bleeding Disorders in High Consanguinity Population; A Retrospective Analysis from Two Tertiary Hospitals in Saudi Arabia.

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Title: Clinicopathological Features of Rare Bleeding Disorders in High Consanguinity Population; A Retrospective Analysis from Two Tertiary Hospitals in Saudi Arabia.
Authors: Aljabry, Mansour S., Alabbas, Fahad, Elyamany, Ghaleb, Sedick, Qanita, Alsuhaibani, Omar, Elfaraidi, Huda, Alzahrani, Azzah, Alotaibi, Sultan, Alqahtani, Mohammed S., Alshahrani, Ahmad M., Alharbi, Mohammed Abdulaziz, Abusabah, Hassan S., Alremali, Lulwa, Alameen, Abdulmohsen Abduaziz, Almohammadi, Mohammed
Source: Journal of Applied Hematology; Apr-Jun2023, Vol. 14 Issue 2, p101-107, 7p
Subject Terms: CLINICAL pathology, NOSEBLEED, HEMATOMA, TERTIARY care, GENETIC testing, RETROSPECTIVE studies, SEVERITY of illness index, BLOOD coagulation disorders, MEDICAL records, MENORRHAGIA, CONSANGUINITY, BLOOD coagulation factors, ECCHYMOSIS, RARE diseases
Geographic Terms: SAUDI Arabia
Abstract: BACKGROUND: Rare bleeding disorder (RBDs) encompasses a deficiency of one or more of FXIII, FXI, FX, FVII, FV, FII, and FI clotting factors, leading to bleeding disorders with variable presentations and outcomes ranging from none or minimal to life-threatening events. RBDs are still underdiagnosed and underreported, especially in Saudi population with a high prevalence of consanguinity. OBJECTIVES: The study aimed to determine the frequency of RBDs, grading of their bleeding severity, and assessment of clinical manifestations and management of RBDs in tertiary Saudi Arabian hospitals. DESIGN AND SETTINGS: This retrospective study of RBDs describes the clinicopathological features of refereed cases to both Prince Sultan Military Medical City and King Khaled University Hospital in Riyadh, Saudi Arabia, from September 2018 to September 2021. Any patient who had already been diagnosed or suspected to have RBDs was enrolled in the study. PATIENTS AND METHODS: Patient's medical records were reviewed for demographic data, clinical presentations, bleeding and family history, consanguinity, treatment outcomes, and molecular testing. Samples were run in specialized coagulation laboratories. Patients with liver dysfunction or acquired factor deficiency were excluded. Patients were categorized into four groups according to the severity of bleeding episodes: asymptomatic, Grade I, Grade II, and Grade III. RESULTS: A total of 26 cases with RBDs were identified during the study period. Most of the included patients are males and pediatrics (<14 years) representing 15 (57.7%) and 14 (53.8%), respectively. FVII was the most common factor deficiency encountered in 9 (35%) patients, followed by FXIII in 5 (19%), FXI in 4 (15%), FX in 3 (11.5%), FV in 3 (11.5%), and combined factor deficiency in 2 (8%) patients. 17 (65.4%) RBD patients presented with bleeding manifestation either with Grade I (9%), Grade II (39%), or Grade III (15%), whereas 47% were asymptomatic. CONCLUSION: The study emphasizes on importance of establishing a national registry of RBDs in Saudi Arabia and the need for further genetic studies to clarify the genotype/phenotype relationships. [ABSTRACT FROM AUTHOR]
Copyright of Journal of Applied Hematology is the property of Wolters Kluwer India Pvt Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: Clinicopathological Features of Rare Bleeding Disorders in High Consanguinity Population; A Retrospective Analysis from Two Tertiary Hospitals in Saudi Arabia.
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  Data: Journal of Applied Hematology; Apr-Jun2023, Vol. 14 Issue 2, p101-107, 7p
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  Data: &lt;searchLink fieldCode=&quot;DE&quot; term=&quot;%22SAUDI+Arabia%22&quot;&gt;SAUDI Arabia&lt;/searchLink&gt;
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: BACKGROUND: Rare bleeding disorder (RBDs) encompasses a deficiency of one or more of FXIII, FXI, FX, FVII, FV, FII, and FI clotting factors, leading to bleeding disorders with variable presentations and outcomes ranging from none or minimal to life-threatening events. RBDs are still underdiagnosed and underreported, especially in Saudi population with a high prevalence of consanguinity. OBJECTIVES: The study aimed to determine the frequency of RBDs, grading of their bleeding severity, and assessment of clinical manifestations and management of RBDs in tertiary Saudi Arabian hospitals. DESIGN AND SETTINGS: This retrospective study of RBDs describes the clinicopathological features of refereed cases to both Prince Sultan Military Medical City and King Khaled University Hospital in Riyadh, Saudi Arabia, from September 2018 to September 2021. Any patient who had already been diagnosed or suspected to have RBDs was enrolled in the study. PATIENTS AND METHODS: Patient&#39;s medical records were reviewed for demographic data, clinical presentations, bleeding and family history, consanguinity, treatment outcomes, and molecular testing. Samples were run in specialized coagulation laboratories. Patients with liver dysfunction or acquired factor deficiency were excluded. Patients were categorized into four groups according to the severity of bleeding episodes: asymptomatic, Grade I, Grade II, and Grade III. RESULTS: A total of 26 cases with RBDs were identified during the study period. Most of the included patients are males and pediatrics (&lt;14 years) representing 15 (57.7%) and 14 (53.8%), respectively. FVII was the most common factor deficiency encountered in 9 (35%) patients, followed by FXIII in 5 (19%), FXI in 4 (15%), FX in 3 (11.5%), FV in 3 (11.5%), and combined factor deficiency in 2 (8%) patients. 17 (65.4%) RBD patients presented with bleeding manifestation either with Grade I (9%), Grade II (39%), or Grade III (15%), whereas 47% were asymptomatic. CONCLUSION: The study emphasizes on importance of establishing a national registry of RBDs in Saudi Arabia and the need for further genetic studies to clarify the genotype/phenotype relationships. [ABSTRACT FROM AUTHOR]
– Name: Abstract
  Label:
  Group: Ab
  Data: &lt;i&gt;Copyright of Journal of Applied Hematology is the property of Wolters Kluwer India Pvt Ltd and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder&#39;s express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.&lt;/i&gt; (Copyright applies to all Abstracts.)
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      – Type: doi
        Value: 10.4103/joah.joah_103_22
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      – Code: eng
        Text: English
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      Pagination:
        PageCount: 7
        StartPage: 101
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      – SubjectFull: SAUDI Arabia
        Type: general
      – SubjectFull: CLINICAL pathology
        Type: general
      – SubjectFull: NOSEBLEED
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      – SubjectFull: HEMATOMA
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        Type: general
      – SubjectFull: GENETIC testing
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      – SubjectFull: RETROSPECTIVE studies
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      – SubjectFull: SEVERITY of illness index
        Type: general
      – SubjectFull: BLOOD coagulation disorders
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      – SubjectFull: MEDICAL records
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      – SubjectFull: MENORRHAGIA
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      – SubjectFull: RARE diseases
        Type: general
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      – TitleFull: Clinicopathological Features of Rare Bleeding Disorders in High Consanguinity Population; A Retrospective Analysis from Two Tertiary Hospitals in Saudi Arabia.
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              Text: Apr-Jun2023
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