Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India

Viswabandya, Auro; Baidya, Shoma; Nair, Sukesh C.; Abraham, Aby; George, Biju; Chandy, Mammen; Srivastava, Alok

doi:10.1111/j.1365-2516.2011.02730.x

Cited by 39 publications

(42 citation statements)

References 28 publications

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“…Almost half (49.2%) of our patients with RFD were born from consanguineous marriages. Similar results have been reported from countries with similar cultural characteristics [19,20]. Our patient group represents the paediatric population, with a median age of seven at presentation.…”

Section: Discussionsupporting

confidence: 85%

Surgical interventions in childhood rare factor deficiencies

Salcioglu¹,

Tuğcu²,

Akçay³

et al. 2013

Blood Coagulation &Amp; Fibrinolysis

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Congenital rare factor deficiencies may present in infancy by life-threatening bleedings or may not show any symptoms until adulthood. It is reported more commonly in countries having consanguineous marriages. Data regarding surgical interventions of rare congenital factor deficiencies are based on case reports and records of guidelines. There are no well documented and separately prepared directories related to pre-surgical and prophylactic approaches of surgical interventions of these deficiencies. Our retrospective study consisted of 171 rare factor deficiencies that were followed up in our clinic, and of whom 61 had 88 surgical interventions between 1990 and 2012. Of these patients, 45 were having factor VII deficiency, and factor V, X, XI, XIII and fibrinogen deficiencies were present in five, four, three, two and two patients, respectively. In 23 patients, factor coagulant activities were under 5% (37.7%), in 15 it was between 5 and 30% (24.6%), and in 23 between 30 and 50% (37.7%). Twenty-eight were symptomatic and 33 were asymptomatic. Information of 51 (83.6%) male and 10 (16.4%) female patients with an age range of 5-25 years (13 ± 5.27), whose age at presentation ranged between 3 weeks and 18 years (7 ± 4.66), were retrieved from patient records and from the records contained in the data-processing environment introduced in 2005. The rate of familial consanguinity was 49.2%. Of the surgical interventions, 24 (27.3%) were major, 24 (27.3%) were minor and 40 (45.4%) were circumcision. We used fresh frozen plasma in 32, recombinant factor (rF)VIIa in 20, prothrombin complex concentrate in five and fibrinogen in three patients during surgical interventions. In 18 patients, antifibrinolytic agents were also used. In 27 patients, surgical interventions were applied without any replacement therapy. No additional doses were required after surgical prophylaxis doses. Thrombotic events were not observed. Antibody occurrence was not detected in these patients. In our study, we evaluated preparation for surgical procedures, factor replacement therapy before surgical intervention and postoperative follow-up in patients with rare coagulation factor deficiency.

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Section: Discussionsupporting

confidence: 85%

Surgical interventions in childhood rare factor deficiencies

Salcioglu¹,

Tuğcu²,

Akçay³

et al. 2013

Blood Coagulation &Amp; Fibrinolysis

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“…In the study of Peyvandi et al [10] in 2012, a poor relationship was found between FV activity and clinical bleeding episodes. In another study that was performed by Viswabandya et al [12] in 2012, 33 patients with FVD were divided into two groups based on the factor's activity, i.e. patients with FV activity <1% and patients with FV activity >1%.…”

Section: Discussionmentioning

confidence: 99%

Congenital Factor V Deficiency: Comparison of the Severity of Clinical Presentations among Patients with Rare Bleeding Disorders

Naderi¹,

Tabibian²,

Alizadeh³

et al. 2014

Acta Haematol

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Background: Factor V deficiency (FVD) is a rare bleeding disorder (RBD) mostly present in regions with a high rate of consanguinity. FVD after FXIII deficiency is the next more prevalent RBD in Sistan and Baluchistan (S&B) in southeastern Iran. The aim of this study was to evaluate the clinical manifestations and severity of bleeding diathesis in patients with FVD. Methods: This descriptive study was conducted on 23 patients with FVD in S&B province. FVD was diagnosed by clinical findings and routine laboratory tests. Bleeding diatheses were classified into three grades (I-III) depending on the severity of symptoms. The severity of bleeding episodes in our patients was compared with other RBDs. Result: Based on residual plasma FV activity, 6 (26%), 16 (69.5%) and 1 (4.5%) patients had mild, moderate and severe factor deficiency, respectively. 24% of the patients had grade III life-threatening bleeding episodes which in comparison with FVII deficiency (17.4%) and FI deficiency (21%) had a higher incidence, and in comparison with FX deficiency (41.7%) and FXIII deficiency (63.1) had a lower incidence. Grade II and grade I bleeding diathesis were observed in 56.2 and 16.7% of the patients, respectively. Conclusion: FVD is the second most common type of RBD in S&B province and grade II bleeding episodes were the major bleeding presentation and observed in more than half of the patients.

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“…There is some uncertainty with respect to the cut off levels to be applied for afibrinogenemia and hypofibrinogenemia. Recent data from an Indian registry, classifies patients as having afibrinogenemia if there is no detectable clot, as hypofibrinogenemia if fibrinogen levels are less than 1 g/l and as dysfibrinogenemia if they are more than 1 g/l with other supportive tests [3]. According to the Rare Bleeding Disorder Working Group, patients with congenital afibrinogenemia have fibrinogen levels of less than 50 mg/dl.…”

Section: Discussionmentioning

confidence: 99%

Congenital afibrinogenemia in a new born

Kaur

Kumar

Bose

et al. 2014

Blood Coagulation &Amp; Fibrinolysis

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Bleeding in the neonates may be a result of thrombocytopenia, sepsis or vitamin K deficiency. Congenital bleeding disorders are a rare cause of bleeding. The umbilical cord bleed is an important clue to underlying bleeding disorders especially factor XIII deficiency and afibrinogenemia. In some laboratories, the routine workup for the bleeding neonate may not always include fibrinogen assays, which may then delay this diagnosis. We report a case of congenital afibrinogenemia in a neonate who presented with umbilical stump bleeding for its rarity and to re-emphasize the need for including fibrinogen assays while assessing a bleeding neonate.

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Correlating clinical manifestations with factor levels in rare bleeding disorders: a report from Southern India

Cited by 39 publications

References 28 publications

Surgical interventions in childhood rare factor deficiencies

Surgical interventions in childhood rare factor deficiencies

Congenital Factor V Deficiency: Comparison of the Severity of Clinical Presentations among Patients with Rare Bleeding Disorders

Congenital afibrinogenemia in a new born

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