☆ 4.7 Review

Haemophilia and Fragility Fractures: From Pathogenesis to Multidisciplinary Approach

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2023)

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Article Environmental Sciences

Risk of Fractures, Repeated Fractures and Osteoporotic Fractures among Patients with Hemophilia in Taiwan: A 14-Year Population-Based Cohort Study

Yuan-Yi Pai et al.

Summary: This study investigated the incidence of fractures among patients with hemophilia. The study found that patients with hemophilia had a higher risk of osteoporotic fracture, but there was no significant difference in all-site fractures and repeated fractures compared to the general population. Therefore, screening, prevention, and treatment for osteoporosis and further osteoporotic fractures among patients with hemophilia are essential.

INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH (2023)

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Article Hematology

Osteoporosis Remains Constant in Patients with Hemophilia-Long-Term Course in Consideration of Comorbidities

Anna C. Strauss et al.

Summary: Patients with hemophilia have an increased risk of osteoporosis. This study aimed to assess the long-term development of bone mineral density (BMD) in hemophilia patients and analyze potential influencing factors. The results showed that BMD did not significantly change over time, and a significant correlation was found between higher body mass index and higher BMD, as well as between higher Gilbert score and lower BMD.

HAMOSTASEOLOGIE (2023)

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Association between pain, arthropathy and health-related quality of life in patients suffering from acromegaly. A cross-sectional study

Angelo Alito et al.

Folia Medica (2023)

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Review Endocrinology & Metabolism

Pathogenesis and treatment of osteoporosis in patients with hemophilia

Xiaoyun Lin et al.

Summary: Hemophilia is a rare inherited bleeding disorder caused by mutations in the genes encoding coagulation factor VIII (FVIII) or IX (FIX). Patients with hemophilia often have an increased risk of osteoporosis and fractures, which is often overlooked. This review discusses the underlying mechanisms and potential treatments for osteoporosis in patients with FVIII or FIX deficiency.

ARCHIVES OF OSTEOPOROSIS (2023)

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Article Hematology

Joint status of patients with nonsevere hemophilia A

Anne-Fleur Zwagemaker et al.

Summary: This study investigates the joint status in patients with nonsevere hemophilia A. Magnetic resonance imaging (MRI) of the elbows, knees, and ankles was used to assess joint status, and International Prophylaxis Study Group (IPSG) scores were calculated.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2022)

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Review Medicine, General & Internal

Low Bone Mineral Density in Hemophiliacs

Jennifer Gebetsberger et al.

Summary: This article reviews the current knowledge on bone health in patients with hemophilia A and the pathogenetic mechanisms involved. Patients with hemophilia A have been found to have low bone mineral density, leading to osteopenia and/or osteoporosis since childhood. There is accumulating evidence suggesting that coagulation factor VIII is directly or indirectly involved in bone physiology. Understanding the role of factor VIII and the mechanisms of decreased bone mineral density in hemophilia A is crucial, especially as non-factor replacement therapies are available and treatment decisions potentially impact bone health.

FRONTIERS IN MEDICINE (2022)

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Review Hematology

Osteoporosis management and falls prevention in patients with haemophilia: Review of haemophilia guidelines

Madison J. Petkovic et al.

Summary: Patients with haemophilia are at high risk of developing osteoporosis, falls, and fractures. However, current guidelines for managing these conditions are inadequate and further research is needed to improve prevention and management strategies.

HAEMOPHILIA (2022)

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Article Biochemistry & Molecular Biology

Polyphosphate Activates von Willebrand Factor Interaction with Glycoprotein Ib in the Absence of Factor VIII In Vitro

Marcela Montilla et al.

Summary: Polyphosphate (polyP) plays an important modulatory role in the binding of von Willebrand factor (VWF) and Factor VIII (FVIII) in blood coagulation, and may be used in developing new therapies to activate VWF.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

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Review Hematology

Current and future therapies for haemophilia-Beyond factor replacement therapies

Keiji Nogami et al.

Summary: Non-factor products have been developed to treat patients with hemophilia by facilitating the coagulation pathway or blocking the anticoagulant pathway. Emicizumab, one of these products, has been globally approved and can alter the phenotype of severe hemophilia patients. However, there is a risk of thrombotic events in patients receiving these non-factor products, and monitoring of their hemostatic function is necessary.

LANCET HAEMATOLOGY (2022)

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Review Hematology

Osteoporosis in hemophilia: what is its importance in clinical practice?

E. Carlos Rodriguez-Merchan

Summary: The relationship between severe hemophilia and osteoporosis has been well established. This paper reviews the available information on osteoporosis in hemophilia and emphasizes the importance of its prevention. Various preventive measures are suggested.

EXPERT REVIEW OF HEMATOLOGY (2022)

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Review Hematology

The evolution of physiotherapy in the multidisciplinary management of persons with haemophilia (PWH): A scoping review

Elena A. Boccalandro et al.

Summary: This scoping review on physiotherapy in haemophilia provides an overview of the past and present scenario regarding physiotherapy in persons with haemophilia. The study highlights the changing role of physiotherapists, who now play a pivotal role in improving the quality of life for haemophilia patients from birth as part of a multidisciplinary team.

HAEMOPHILIA (2022)

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Review Hematology

Optimising prophylaxis in haemophilia A: The ups and downs of treatment

Erik Berntorp et al.

Summary: The classical goals of haemophilia A treatment are to prevent bleeds, minimize long-term complications associated with joint damage, and improve quality of life by maintaining appropriate FVIII levels. Understanding the varying dose and frequency required for FVIII replacement therapies among individuals is important for optimal protection. Personalized therapy and a better understanding of pharmacology and pharmacokinetics could lead to improved patient outcomes.

BLOOD REVIEWS (2021)

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Review Medicine, General & Internal

The changing treatment landscape in haemophilia: from standard half-life clotting factor concentrates to gene editing

Maria Elisa Mancuso et al.

Summary: Congenital hemophilia A and B are X-linked bleeding disorders, and replacement therapy is the main treatment. Traditional intravenous injections can be burdensome for patients and carry the risk of inhibitor development. New molecules delivered subcutaneously provide effective prophylaxis treatment options.

LANCET (2021)

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Review Genetics & Heredity

Bone fragility in patients affected by congenital diseases non skeletal in origin

L. Masi et al.

Summary: This article presents a taxonomic classification of non-skeletal rare congenital disorders that impact bone metabolism, outlining 6 groups of disorders that may influence bone cell activity or bone matrix characteristics. The International Osteoporosis Foundation's Skeletal Rare Diseases Working Group reviewed the taxonomy to aid in diagnosis and clinical management.

ORPHANET JOURNAL OF RARE DISEASES (2021)

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Article Oncology

Factor XI Deficiency

Magdalena Dorota Lewandowska et al.

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA (2021)

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Review Hematology

Hemophilic arthropathy: Current knowledge and future perspectives

Roberta Gualtierotti et al.

Summary: Hemophilia A and B are rare X-linked inherited bleeding disorders caused by deficiency in coagulation factors. Prevention of bleeding and targeted treatment are crucial in maintaining joint health. Despite advancements, chronic arthropathy remains a significant issue, necessitating further research for more effective therapies. Patient management should be individualized based on risk factors and involve multidisciplinary care teams.

JOURNAL OF THROMBOSIS AND HAEMOSTASIS (2021)

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Article Medicine, General & Internal

Haemophilia

Erik Berntorp et al.

Summary: Haemophilia A and B are rare congenital disorders caused by deficiency of clotting factors, leading to symptoms such as bleeding and joint disease. With advancements in treatment, individuals with haemophilia can now expect almost normal life expectancy and quality of life, although the development of inhibitory antibodies remains a major challenge for some patients. Gene therapy for haemophilia is progressing and may soon become a reality.

NATURE REVIEWS DISEASE PRIMERS (2021)

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Article Hematology

Effect of low-dose factor VIII prophylaxis therapy on bone mineral density and 25(OH) vitamin D level in children with severe haemophilia A

Nevine Gamal Andrawes et al.

HAEMOPHILIA (2020)

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Review Biochemistry & Molecular Biology

Hematological Diseases and Osteoporosis

Agostino Gaudio et al.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)

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Pain and Frailty in Hospitalized Older Adults

Ilaria Ardoino et al.

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Serum Sclerostin Level and Bone Mineral Density in Pediatric Hemophilic Arthropathy

Dalia M. E. El-Mikkawy et al.

INDIAN JOURNAL OF PEDIATRICS (2019)

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Trabecular bone score and quantitative ultrasound measurements in the assessment of bone health in breast cancer survivors assuming aromatase inhibitors

A. Catalano et al.

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION (2019)

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Article Hematology

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

Sheng-Hui Tuan et al.

HAEMOPHILIA (2019)

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Article Oncology

Evaluation of Bone Mineral Density in Children With Hemophilia: An Observational Case-Control Study

A. Ashritha et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2019)

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Article Hematology

Hemophilia A and B: molecular and clinical similarities and differences

Giancarlo Castaman et al.

HAEMATOLOGICA (2019)

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Article Multidisciplinary Sciences

Hemophilia A and B mice, but not VWF-/- mice, display bone defects in congenital development and remodeling after injury

Sarah Taves et al.

SCIENTIFIC REPORTS (2019)

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Article Endocrinology & Metabolism

European guidance for the diagnosis and management of osteoporosis in postmenopausal women

J. A. Kanis et al.

OSTEOPOROSIS INTERNATIONAL (2019)

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Article Orthopedics

Musculoskeletal treatment in haemophilia

Bulent Atilla et al.

EFORT OPEN REVIEWS (2019)

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Article Hematology

Ageing successfully with haemophilia: A multidisciplinary programme

E. Boccalandro et al.

HAEMOPHILIA (2018)

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Article Hematology

The role of sclerostin/dickkopf-1 and receptor activator of nuclear factor kB ligand/osteoprotegerin signalling pathways in the development of osteoporosis in patients with haemophilia A and B: A cross-sectional study

P. Anagnostis et al.

HAEMOPHILIA (2018)

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Article Hematology

Joint disease in haemophilia: Pathophysiology, pain and imaging

L. F. D. van Vulpen et al.

HAEMOPHILIA (2018)

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Article Hematology

Usefulness of bone microarchitectural and geometric DXA-derived parameters in haemophilic patients

Fabio Massimo Ulivieri et al.

HAEMOPHILIA (2018)

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Review Hematology

Recent advances in musculoskeletal physiotherapy for haemophilia

David Stephensen et al.

THERAPEUTIC ADVANCES IN HEMATOLOGY (2018)

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Article Endocrinology & Metabolism

Lower limbs heterometry correction in patients with osteoporosis and increased risk of falls

Elisa Pratelli et al.

CLINICAL CASES IN MINERAL AND BONE METABOLISM (2017)

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Letter Hematology

High serum sclerostin levels in children with haemophilia A

Paola Giordano et al.

BRITISH JOURNAL OF HAEMATOLOGY (2016)

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Perioperative management and outcome of fracture treatment in patients with haemophilia without inhibitors

A. C. Strauss et al.

HAEMOPHILIA (2016)

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Letter Hematology

Stop only advising physical activity in adults with haemophilia... prescribe it now! The role of exercise therapy and nutrition in chronic musculoskeletal diseases

S. Lobet et al.

HAEMOPHILIA (2016)

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Editorial Material Hematology

Haemophilia and low bone mass. Ok, but what about fracture risk?

P. Anagnostis et al.

HAEMOPHILIA (2016)

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Article Hematology

Aging among persons with hemophilia: contemporary concerns

Dana Angelini et al.

SEMINARS IN HEMATOLOGY (2016)

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Premature changes in trabecular and cortical microarchitecture result in decreased bone strength in hemophilia

Adrienne Lee et al.

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Review Hematology

Haemophilia A and B as a cause for secondary osteoporosis and increased fracture risk

Panagiotis Anagnostis et al.

BLOOD COAGULATION & FIBRINOLYSIS (2015)

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Letter Hematology

Increased fracture rates in people with haemophilia: a 10-year single institution retrospective analysis

Nathan D. Gay et al.

BRITISH JOURNAL OF HAEMATOLOGY (2015)

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Review Hematology

Bone health in persons with haemophilia

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Inflammatory focal bone destruction in femoral heads with end-stage haemophilic arthropathy: a study on clinic samples with micro-CT and histological analyses

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INJURY-INTERNATIONAL JOURNAL OF THE CARE OF THE INJURED (2015)

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Article Education, Scientific Disciplines

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HEMATOLOGY-AMERICAN SOCIETY OF HEMATOLOGY EDUCATION PROGRAM (2015)

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A case-control study assessing bone mineral density in severe haemophilia A in the UK

A. J. Wells et al.

HAEMOPHILIA (2015)

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Review Oncology

Clinical management of older persons with haemophilia

C. Hermans et al.

CRITICAL REVIEWS IN ONCOLOGY HEMATOLOGY (2014)

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Review Endocrinology & Metabolism

Bone mineral density in men and children with haemophilia A and B: a systematic review and meta-analysis

S. A. Paschou et al.

OSTEOPOROSIS INTERNATIONAL (2014)

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Article Hematology

The bone disease associated with factor VIII deficiency in mice is secondary to increased bone resorption

M. Recht et al.

HAEMOPHILIA (2013)

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P. D'Amelio et al.

OSTEOPOROSIS INTERNATIONAL (2012)

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Article Hematology

Reduced bone mineral density in patients with haemophilia A and B in Northern Greece

Panagiotis Anagnostis et al.

THROMBOSIS AND HAEMOSTASIS (2012)

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Leif Mosekilde et al.

CURRENT DRUG SAFETY (2011)

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Article Hematology

Increased bone resorption is implicated in the pathogenesis of bone loss in hemophiliacs: correlations with hemophilic arthropathy and HIV infection

Olga Katsarou et al.

ANNALS OF HEMATOLOGY (2010)

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Article Biochemistry & Molecular Biology

Factor VIII-von Willebrand Factor Complex Inhibits Osteoclastogenesis and Controls Cell Survival

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JOURNAL OF BIOLOGICAL CHEMISTRY (2009)

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NEW ENGLAND JOURNAL OF MEDICINE (2009)

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F. P. J. G. Lafeber et al.

HAEMOPHILIA (2008)

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Christopher S. Kovacs

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Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia

Marilyn J. Manco-Johnson et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

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Article Hematology

Fracture neck of femur in haemophilia A - experience from a cohort of 11 patients from a tertiary centre in India

V. N. Lee et al.

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Osteoporosis in young haemophiliacs from western India

Anish P. Nair et al.

AMERICAN JOURNAL OF HEMATOLOGY (2007)

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Evaluation of bone mineral density in children with hemophilia: Mansoura University children hospital (MUCH) experience, Mansoura, Egypt

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