Haemophilia A carriers demonstrate pathological and radiological evidence of structural joint changes

Gilbert, Leslie; Rollins, L C; Hilmes, Melissa A.; Luo, Yu; Gailani, David; DeBaun, Michael R.; Sidonio, Robert F.

doi:10.1111/hae.12535

Cited by 31 publications

(29 citation statements)

References 9 publications

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“…Furthermore, haemophilia A and B carriers were noted to have increased bleeding scores when compared to controls (Olsson et al , ). Finally, in a pilot study of obligate haemophilia A carriers with FVIII activities within the normal range, 65% (22 of 34) demonstrated soft tissue and/or osteochondral joint changes, corroborating the findings of reduced joint range of motion in haemophilia A carriers enrolled in the UDC project (Gilbert et al , ; Sidonio et al , ). These studies all suggest an increased bleeding tendency in haemophilia A carriers despite a normal FVIII:C.…”

supporting

confidence: 66%

A cross‐sectional study of bleeding phenotype in haemophilia A carriers

et al. 2015

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Summary Haemophilia A carriers have historically been thought to demonstrate normal haemostasis. However, recent data demonstrates that despite normal factor VIII, haemophilia A carriers demonstrate an increased bleeding tendency. We tested the hypothesis that obligate haemophilia carriers demonstrate an increase in bleeding symptoms. A cross sectional study was performed comparing haemophilia A carriers to normal women. Questionnaire assessment included a general bleeding questionnaire, condensed MCMDM-1VWD bleeding assessment tool and Pictorial Bleeding Assessment Chart (PBAC). Laboratory assessment included complete blood count, prothrombin time, activated partial thromboplastin time, fibrinogen activity, FVIII activity (FVIII:C), von Willebrand factor antigen level, ristocetin cofactor, platelet function analyser-100™ and ABO blood type. 44 haemophilia A carriers and 43 controls were included. Demographic features were similar. Laboratory results demonstrated a statistically significant difference only in FVIII:C (82.5 versus 134%, p value < 0.001). Carriers reported a higher number of bleeding events, and both condensed MCMDM-1 VWD bleeding scores (5 versus 1, p value < 0.001) and PBAC scores (423 versus 182.5, p value = 0.018) were significantly higher in carriers. Haemophilia A carriers exhibit increased bleeding symptoms when compared to normal women. Further studies are necessary to fully understand the bleeding phenotype in this population and optimize clinical management.

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confidence: 66%

A cross‐sectional study of bleeding phenotype in haemophilia A carriers

et al. 2015

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“…To the best of our knowledge, no available researches study the association between osteoporotic fractures and haemophilia carrier. Gilbert et al found haemophilia A carriers with normal plasma FVIII might demonstrate decreased joint range of motion, soft tissue and osteochondral changes on joint MRI, while the International Prophylaxis Study Group scores in them consistent with previous joint bleeding and subsequent joint damage. They also found that haemophilia A carriers experience reduced health‐related quality of life, especially in the domains of ‘Pain’ and ‘General Health’ .…”

Section: Discussionmentioning

confidence: 99%

Risk of osteoporotic fractures as a consequence of haemophilia: A nationwide population‐based cohort study

Tuan

Sun

et al. 2019

Haemophilia

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Aim: Low bone mineral density occurs more commonly in patients with haemophilia (PWH) than the general population. However, the risk of haemophilia-related osteoporotic fractures has not been well established. We aim to explore the relationship between haemophilia and the development of osteoporotic fractures following haemophilia. Methods:This was a nationwide population-based cohort study based on the data in the Taiwan National Health Insurance Research Database (TNHIRD). Patients who were diagnosed with haemophilia were selected. A comparison cohort was formed of patients without haemophilia who were matched according to age and sex. The incidence rate and the hazard ratios (HRs) of new-onset osteoporotic fractures were calculated for both cohorts. Results:The haemophilia cohort consisted of 75 patients, and the comparison cohort comprised 300 matched control patients without haemophilia. The risk of osteoporotic fractures was higher in the haemophilia cohort than in the comparison cohort (HR = 5.41, 95% confidence interval [CI] = 2.42-12.1, P < 0.001). After adjustments for age, sex, comorbidities, urbanizations and socio-economic status, PWH were 4.37 times more likely to develop osteoporotic fractures (95% CI = 1.88-10.17, P = 0.001) as compared to matched cohort. In addition, the incidence of newly diagnosed osteoporotic fractures was significantly increased after 5-year follow-up durations.Conclusion: Though our study by TNHIRD presented methodologic flaws by its design nature, we observed that haemophilia may increase the risk of osteoporotic fractures and the cumulative incidence was significantly higher for PWH diagnosed more than 5 years. Clinicians should pay particular attention to osteoporotic fractures following haemophilia in PWH as they age. K E Y W O R D S cumulative incidence, haemophilia, National Health Insurance Research Database, osteoporotic fracture | 877 TUAN eT Al.

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“…The analyses suggested that subclinical joint bleeding may be occurring before adolescent years. Similarly, a prospective cross-sectional study showed that hemophilia carriers exhibited reduced ROM and structural joint changes because of subclinical joint bleeding, resulting in radiographically confirmed joint damage [9]. For these reasons, prophylaxis was strongly encouraged for patient 5, particularly before high-impact activities.…”

Section: Discussionmentioning

confidence: 99%

“…Females with levels of FVIII up to 60% can experience bleeding symptoms and are considered symptomatic carriers of hemophilia [2, 5]. Hemophilia in females may lead to complications, such as heavy menstrual bleeding (HMB) [6-8], dysmenorrhea, perimenopausal bleeding [2], and joint complications [9, 10].…”

Section: Introductionmentioning

confidence: 99%

Hemophilia A in Females: Considerations for Clinical Management

Bryant¹,

Boukouvala²,

McDaniel³

et al. 2019

Acta Haematol

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Approximately 50% of female carriers of hemophilia A have factor VIII (FVIII) levels below 0.5 IU/dL and may be categorized as having mild hemophilia. Females with hemophilia may go undiagnosed for years because the most common symptoms – menorrhagia and bleeding after childbirth – also occur in females without hemophilia. Females with hemophilia can exhibit increased bleeding tendencies despite current guidelines of expected, adequate FVIII levels. The cases described illustrate the clinical variability and presentation of hemophilia in females and highlight the importance of a timely diagnosis, effective management, and monitoring. Prophylactic factor replacement therapy is recommended in females with hemophilia, particularly those with joint disease or gynecologic complications. Affected individuals should receive infusion training and education on treatment options, physical activities, the importance of treatment adherence, and recognizing bleeding symptoms warranting treatment. Further study is needed to increase awareness of hemophilia in females and reassess current guidelines for their management and monitoring.

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Haemophilia A carriers demonstrate pathological and radiological evidence of structural joint changes

Cited by 31 publications

References 9 publications

A cross‐sectional study of bleeding phenotype in haemophilia A carriers

A cross‐sectional study of bleeding phenotype in haemophilia A carriers

Risk of osteoporotic fractures as a consequence of haemophilia: A nationwide population‐based cohort study

Hemophilia A in Females: Considerations for Clinical Management

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