Inherited Bleeding Disorders in North Indian Children: 14 years’ Experience from a Tertiary Care Center

Context: Inherited bleeding disorders are common in India and hemophila and von Willebrand diseases are the most common among them. These patients can present in any department including paediatrics, medicine, orthopaedics and even gynaecology so knowledge about hemophilias and facilities for specialized tests for diagnosis are required. Few centres of north-eastern part of India perform these tests so hemophilias remain an underdiagnosed and underreported disease. Aims: The objective of this study was to estimate the prevalence of hemophilia in patients referred to this tertiary care centre and study the clinicopathological profile of these patients. Settings and Design: Prospective study. Methods and Material: Patients referred with suspicion of bleeding disorders in a time period of 4 years were evaluated. Complete clinical details, family history was retrieved and tests like complete blood counts, bleeding time, prothrombin time, activated partial thromboplastin time and factor assays were performed. Results: A total of 1126 patients with suspected bleeding disorder were tested and 237 were diagnosed of inherited bleeding disorders. Hemophilia A (HA) was diagnosed in 151 patients (63.7%), Hemophilia B (HB) in 31 (13%). Mean age was 10 years in HA and 11 years in HB patients. Clinical features of hemophilia varied according to Factor VIII levels. Coagulation type of bleeding such as hemarthrosis and hematoma were much more frequent than mucosal type bleeding. Conclusions: The present study is one of the very few studies from the north-eastern part of India estimating the prevalence and clinicopathological features of hemophilia, highlighting the need of specialized diagnostic facilities in this part of India.

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“…also showed positive family history in nearly half of the cases. [ 3 ]…”

Section: Discussionmentioning

confidence: 99%

“…Other studies from India showed similarly high percentages of severe hemophilia [ Table 5 ]. [ 3 5 6 7 8 ] Study by Kumar et al . from the same centre as the present study showed 63% of severe HA and 62% of severe HB.…”

Section: Discussionmentioning

confidence: 99%

Clinicopathological features of hemophilia in a tertiary care centre of India

Pawan

Yadav

Tilak

et al. 2021

Journal of Family Medicine and Primary Care

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“…The proportion of female patients with VWD (all types) ranged from 45% to 68%. 10,12,13,15,18,19,22,24,25,[28][29][30][31][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48] • Median age: 33-42 years 14,24 • Adult patients (aged ≥18 years): 82.5-87.0% 15,18 • Majority of patients: 11-44 years age group (68%) 25 • Median age: 41-46 years 16,24 • Adult patients (aged ≥18 years): 79.2-80.7% 15,18 • Majority of patients: 11-44 years age group (58%) 25 • Median age: 40-41 years 16,24 • Adult patients (aged ≥18 years): 71.8-73.5% 15,18 • Majority of patients: 11-44 years age group (58%) 25 Age at symptom onset…”

Section: Patient Demographic Characteristicsmentioning

confidence: 99%

“…• Group O: 39.8-87.5% 24,[29][30][31]37,39,57,62 • Group O: 47.5-93.6% 24,53,54,62,75 • Group O: 32.0-62.5% 24,54,62,75 • Group O: 35.3-45.4% 24,58 Family history • Family history of VWD: 13.2-68.9% 22,23,38,42,55,62,77 • Family history of bleeding: o 15.2-60.0% (bleeding disorders) 40,43,62 o 18.9% (hemophilia A) 62 o 51.2% (bleeding tendencies) 47 • Family history of VWD: 22.4% 54 • Family history of bleeding: 50% in patients with severe VWD 38 • Family history of VWD: 37.5% 54 • Family history of bleeding: 78.1% in patients with severe VWD 38 • Family history of VWD (siblings): 21.1% 45 • Family history of bleeding: 33.3% in patients with severe VWD 38 Consanguinity • 36-48.5% in pediatric population (<18 years) 43,44 • 27.7% in pediatric population (<18 years) 44 • 25.0% in pediatric population (<18 years) 44 • 67-71.9% in pediatric population (<18 years) 44,56 Abbreviation: VWD, von Willebrand disease.…”

Section: Patient Demographic Characteristicsmentioning

confidence: 99%

Von Willebrand Disease Epidemiology, Burden of Illness and Management: A Systematic Review

Du¹,

Bergamasco²,

Moride³

et al. 2023

JBM

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Introduction Although hereditary von Willebrand disease (VWD) is the most common bleeding disorder, its epidemiology is not well understood. A systematic review (PROSPERO CRD42020197674/CRD42021244374) on the epidemiology/burden of illness of VWD was conducted to better understand patients’ unmet needs. Methods Observational studies (published January 1, 2010 to April 14, 2021) were identified in MEDLINE and Embase databases, using free-text keywords and thesaurus terms for VWD and outcomes of interest. Pragmatic web-based searches of the gray literature, including conference abstracts, were performed, and reference lists of retained publications were manually searched for additional sources. Case reports and clinical trials (phase 1–3) were excluded. Outcomes of interest were incidence, prevalence, mortality, patient characteristics, burden of illness, and therapeutic management/treatments currently used for VWD. Results Of the 3095 identified sources, 168 were included in this systematic review. Reported VWD prevalence (22 sources) ranged from 108.9 to 2200 per 100,000 in population-based studies and from 0.3 to 16.5 per 100,000 in referral-based studies. Reported times between first symptom onset and diagnosis (two sources; mean 669 days; median 3 years) highlighted gaps in timely VWD diagnosis. Bleeding events reported in 72–94% of the patients with VWD (all types; 27 sources) were mostly mucocutaneous including epistaxis, menorrhagia, and oral/gum bleeding. Poorer health-related quality of life (three sources) and greater health care resource utilization (three sources) were reported for patients with VWD than in general populations. Conclusion Available data suggest that patients with VWD experience high disease burden in terms of bleeding, poor quality of life, and health care resource utilization.

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“…The bleeding disorders in children, particularly hemophilia, are of considerable concern to pediatricians. India may have over 70,000 patients with hemophilia A and B [1], which is deemed to be a high-cost, low-volume disease [2], and is the most common inherited bleeding disorder encountered in tertiary care centers [3]. It is critical to identify inherited bone marrow failure syndromes (IBMFS) among the children with aplastic anemia to avoid inappropriate use of immunosuppressive treatment.…”

mentioning

confidence: 99%