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Special Issue "Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities"

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: 31 December 2023 | Viewed by 3350

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Prof. Dr. Ezio Zanon

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Guest Editor

Haemophilia Centre, Department of Medicine, University of Padua Medical School, 35128 Padova, Italy
Interests: hemophilia A and B; Von Willebrand disease; rare coagulation disorders; antipholipid antibodies (lupus anticoagulant, anticardiolipin antibodies); deep vein thrombosis and pulmonary embolism; venous thromboembolism; arterial thrombosis
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Special Issue Information

Dear Colleagues,

In recent years, several new drug treatments have been developed for treating haemophilia patients. Recombinant clotting factor concentrates FVIII/FIX extended half-life, and new haemostasis agents administered subcutaneously (weekly to monthly) are available. These innovative approaches have the potential to enhance the standard of care by decreasing infusion frequency in order to increase compliance, promote prophylaxis, offer alternatives to inhibitor patients, and ease the administration route.

Prophylaxis is the gold-standard treatment in haemophilia to prevent bleeding and recurrent hemarthrosis, which progresses towards an inevitable haemophilic arthropathy, yet numerous unanswered issues remain that concern new drugs. Although EHL products are promising, the optimal strategy for the treatment of bleeds between prophylactic doses and dosing regimens will likely have to be individualized according to patient pharmacokinetics, accounting for age and physical activity. Emicizumab appears to be able to improve haemostasis in haemophilia patients, probably including those with inhibitors; however, they do not currently appear to be able to prevent all bleeding. What is the best treatment to reduce the risk of severe bleeding for newborns, such as intracranial haemorrhage? Could emicizumab and EHL equally protect joints from developing haemophilic arthropathy? What is the best product for active patients? There is much more to cover. This Special Issue, “Haemophilia: Current Treatment and Challenges”, aims to provide an overview of current and developing drugs for haemophilia treatments, endeavouring to give some answers to the many questions and concerns that exist.

Prof. Dr. Ezio Zanon
Guest Editor

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Keywords

haemophilia A and B
FVIII EHL, FIX EHL
prophylaxis
emicizumab
health-related quality of life
population pharmacokinetics

Published Papers (5 papers)

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Research

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9 pages, 738 KiB

Open AccessCommunication

Rare within Rare: A Girl with Severe Haemophilia A and Turner Syndrome

and

Teodora Smaranda Arghirescu

J. Clin. Med. 2023, 12(23), 7437; https://doi.org/10.3390/jcm12237437 - 30 Nov 2023

Abstract

A coincidental occurrence of severe haemophilia A and Turner syndrome in a female person is extremely rare (less than 10 cases published). In such challenging cases, a multidisciplinary approach based on medicine of precision with full access to genetic and bio-molecular exploration is indispensable. The article presents an eight-year-old girl, with a family history of haemophilia, without significant disease signs (only post-dental extraction bleeding and a shorter stature). Discordantly, however, the investigations revealed a challenging condition: a genotype of 46,X,i(Xq), with an Isochromosome Xq responsible for the Turner syndrome and simultaneously, for the detrimental transformation, interfering with X chromosome inactivation, of an obligate hemophilia carrier into a severe hemophilia case—two distinct and provocative diseases. Full article

(This article belongs to the Special Issue Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities)

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Review

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11 pages, 243 KiB

Open AccessReview

Pharmacological Thromboprophylaxis in People with Hemophilia Experiencing Orthopedic Surgery: What Does the Literature Say in 2023?

Emerito Carlos Rodriguez-Merchan

J. Clin. Med. 2023, 12(17), 5574; https://doi.org/10.3390/jcm12175574 - 26 Aug 2023

Viewed by 887

Abstract

This narrative review of the literature, consisting of papers found in PubMed and The Cochrane Library published up to 31 July 2023, analyzed those that were deemed to be closely related to the title of this paper. It was encountered that the peril of deep vein thrombosis (DVT) in people with hemophilia (PWH) after orthopedic surgery is very small, such that pharmacological thromboprophylaxis is not necessary in most cases. The hemophilia literature states that the use of pharmacological thromboprophylaxis should only be performed in PWH undergoing major orthopedic surgery (total-knee arthroplasty, total-hip arthroplasty, ankle arthrodesis) who have additional venous thromboembolism (VTE) risk factors, such as old age, prior VTE, varicose veins, general anesthesia, cancer, factor V (Leiden) mutation, overweight, and treatment with the oral contraceptive pill (in females with von Willebrand’s illness). If we notice various risk factors for VTE in PWH who experience orthopedic surgery, theoretically, we should perform the identical type of pharmacological thromboprophylaxis advised for non-hemophilia patients: low-molecular weight heparins (LMWHs), such as enoxaparin (40 mg subcutaneous/24 h); or direct oral anticoagulants (DOACs), either thrombin inhibitors (dabigatran, 150 mg oral/12 h) or activated factor X (FXa) inhibitors (rivaroxaban, 20 mg oral/24 h; apixaban, 5 mg oral/24 h), or subcutaneous fondaparinux (2.5 mg/24 h subcutaneously). However, the review of the literature on hemophiliac patients has shown that only a few authors have used pharmacological prophylaxis with LMWH (subcutaneous enoxaparin) for a short period of time (10–14 days) in some patients who had risk factors for VTE. Only one group of authors used a low dose of DOAC in the dusk after the surgical procedure and the next day, specifically in individuals at elevated risk of VTE and elevated risk of bleeding after the surgical procedure. Full article

(This article belongs to the Special Issue Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities)

Other

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7 pages, 573 KiB

Open AccessOpinion

Joint Dysfunction as a Cause of Spontaneous Subclinical Bleeding in Infants with Hemophilia

Elena Anna Boccalandro

Samantha Pasca

Valentina Begnozzi

Roberta Gualtierotti

and

Pier Mannuccio Mannucci

J. Clin. Med. 2023, 12(20), 6672; https://doi.org/10.3390/jcm12206672 - 22 Oct 2023

Viewed by 642

Abstract

Hemophilia is an inherited hemorrhagic disorder; its main clinical manifestations being bleeding in muscles and joints. Ankles, knees, and elbows are the most frequently affected joints, followed by shoulders and hips. The clinical signs of joint involvement are reduced mobility, swelling and walking difficulties. Bleeding episodes in patients with hemophilia are usually divided into traumatic and spontaneous, but we believe that the latter are not truly spontaneous but rather the result of joint stresses owing to motion actions that create dysfunctions starting from infancy. Pharmacological prophylaxis with factor replacement therapies or non-replacement drugs markedly reduces musculoskeletal hemorrhages. However, the onset of subclinical joint stress can be reduced only by associating this therapeutic approach with the accurate observation of the child motion patterns and restoring them if dysfunctional, thereby primarily preventing subclinical bleeding and ultimately the onset or progression of hemophilic arthropathy. Full article

(This article belongs to the Special Issue Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities)

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9 pages, 1398 KiB

Open AccessCase Report

Surgery and Prophylaxis with Susoctocog-Alfa in Acquired Hemophilia: Case Series and Literature Review

and

Alessandra Borchiellini

J. Clin. Med. 2023, 12(14), 4590; https://doi.org/10.3390/jcm12144590 - 10 Jul 2023

Viewed by 513

Abstract

Background: Acquired hemophilia A (AHA) is a rare bleeding disease due to autoantibodies directed against clotting factor VIII (FVIII). Treatment of AHA consists of inhibitor eradication with immunosuppressive therapy (IST) and prompt control of bleeding obtained with bypassing agents or recombinant porcine FVIII (rpFVIII). The latter has recently been licensed for management of acute bleeding in AHA. Unlike treatment with bypassing agents, rpFVIII can be monitored to provide a successful hemostatic effect and avoid overtreatment. Correlation between rpFVIII inhibitor titers and efficacy of rpFVIII treatment remains a matter of debate. Methods: We report three cases of AHA in which rpFVIII was successfully used with an unconventional schedule despite the presence of medium–high titers of the rpFVIII. The modified Nijmegen–Bethesda inhibitor assay (NBA) was used to dose porcine FVIII inhibitors. Result: The presence of rpFVIII inhibitors prior to the exposition to susoctocog-alfa, that may suggest a cross-reactivity with human FVIII inhibitors, did not affect hemostasis. Conclusion: In our experience, rpFVIII demonstrates safety and efficacy in the presence of rpFVIII inhibitors and using an unconventional schedule in both the perioperative and outpatient settings. Laboratory measurement of inhibitors against rpFVIII during treatment is described for the first time. Full article

(This article belongs to the Special Issue Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities)

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12 pages, 3619 KiB

Open AccessSystematic Review

Eltrombopag for Adults and Children with Immune-Refractory Thrombocytopenic Purpura: A Systematic Review

Danielle Francisco Honorato de Barros Torelli

Crystian Bitencourt Soares Oliveira

Gisele Alborghetti Nai

Evelinda Marramon Trindade

and

Luiz Euribel Prestes-Carneiro

J. Clin. Med. 2023, 12(12), 3872; https://doi.org/10.3390/jcm12123872 - 06 Jun 2023

Viewed by 695

Abstract

Eltrombopag is an agonist that binds to the membrane-bound domain of the thrombopoietin receptor used in immune thrombocytopenic purpura (ITP). We conducted a meta-analysis of randomized controlled trials to assess the efficacy and safety of eltrombopag in adults and children with refractory ITP. Adults who received eltrombopag had a significantly better platelet response (relative risk [RR], 3.65; 95% confidence interval [CI], 2.39–5.55), but there were no differences in the incidence of bleeding (RR, 0.8; 95% CI, 0.52–1.22) and adverse effects (RR, 0.99; 95% CI, 0.55–1.78) compared with the placebo. In children, there was no difference between eltrombopag and placebo for a platelet response >50,000/mm³ (RR, 3.93; 95% CI, 0.56–27.79) and the number of adverse events (RR, 0.99; 95% CI, 0.25–1.49); however, a lower incidence of bleeding was observed (RR, 0.47; 95% CI, 0.27–0.83). Treatment with eltrombopag protected adults and children from severe disease and death. Full article

(This article belongs to the Special Issue Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities)

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Special Issue "Haemophilia: Current Treatment and Clinical Outcomes, Challenges and Opportunities"

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