Arthropathy in people with mild haemophilia: Exploring risk factors.

BACKGROUND: It is important to investigate which factors are associated with the development of arthropathy in people with mild haemophilia (PWMH), in order to prevent it and to limit its effect on function and quality of life. PURPOSE: To examine the risk factors associated with arthropathy and to predict its presence and degree of involvement in our PWMH population. METHODS: This was an observational, cross-sectional cohort study of 85 PWMH under follow-up in our centre. Patient variables (age, body mass index, haemophilia type, genetic mutations, baseline factor levels, age at diagnosis, history of inhibitor, level of physical activity and years of practice, history of haemarthrosis and muscle haematoma) were analysed and related to the presence or absence of arthropathy and the degree of arthropathy (measured with HJHS and HEAD-US). Multivariable models were performed. RESULTS: Some 36.5% of PWMH had arthropathy. The variables that showed an independent association with the presence of arthropathy were patient age (median 42 years) and clotting factor levels (median 10.5 IU/dL). The risk of developing arthropathy increased by 7.9% for each additional year of age and decreased by 7.7% for each 1 IU/dL increase in clotting factor. When arthropathy developed, its degree of involvement might have been influenced by the type of physical activity performed. CONCLUSIONS: Patient age and factor levels appear to be the most determinant risk factors associated with the development of arthropathy in mild haemophilia. Monitoring joint health is desirable in this patient population. In patients with arthropathy, physical activities with a low risk of bleeding are the most recommended.

Applying World Health Organization 2020 guidelines on physical activity and sedentary behavior to people with hemophilia.

Introduction: The new World Health Organization (WHO) guidelines on physical activity incorporate new concepts, such as sedentary behavior, recommendations for specific age groups and for people living with chronic conditions and disability. This could be extrapolated for the first time to people with hemophilia (PWH) within the framework in which these recommendations are applicable. The benefits of physical activity for PWH include physical, psychological and social benefits.Areas covered: This is a narrative review of the literature. We searched the MEDLINE and the Cochrane Library for WHO guidelines and articles related to physical activity in PWH. For all population groups, the benefits of performing exercise outweigh the possible harms. In PWH, there is a perceived increased risk of bleeding associated with physical activity. However, research suggests that this risk is associated with trauma during activity rather than intensity of physical activity, which offers the most health benefits.Expert opinion: Given the hematological, physical and functional conditions of PWH are highly variable, individualized counseling is needed based on age, therapeutic strategy, degree of arthropathy and level of disability. In this article, we analyze the applicability of the WHO recommendations to PWH, which is important to further promote healthy lifestyle motivation.

What COVID-19 can mean for people with hemophilia beyond the infection risk.

INTRODUCTION: The coronavirus disease 2019 (COVID-19) pandemic represents an unprecedented global health crisis. To combat its effects, many governments have opted for strategies of social isolation that involve a radical change in people's behavior. AREAS COVERED: For patients with hemophilia, the negative consequences of these measures can be greater, given they modify aspects of health care and lifestyles needed to counteract the adverse effects of hemophilia. The long-term consequences of the pandemic on patients with hemophilia are not well known. The aim of this special report is to show what COVID-19 could mean for this population, beyond the risk of infection. EXPERT OPINION: Considerations of the clinical, care, therapeutic, physical, nutritional, mental health, pain, and disability aspects that might be affected are included. Strategies are also suggested to minimize the effects that these issues can have on patients' lives. Patients, health professionals, and society as a whole must work together to mitigate the effects of the pandemic on people with hemophilia.

'Do not Do' Recommendations in Hemophilia.

BACKGROUND: It is important to discard those practices that do not add value. As a result, several initiatives have emerged. All of them try to improve patient safety and the use of health resources. PURPOSE: To present a compendium of "do not do recommendations" in the context of hemophilia. METHODS: A review of the literature and current clinical guidelines has been made, based on the best evidence available to date. RESULTS: The following 13 recommendations stand out: 1) Do not delay the administration of factor after trauma; 2) do not use fresh frozen plasma or cryoprecipitate; 3) do not use desmopressin in case of hematuria; 4) do not change the product in the first 50 prophylaxis exposures; 5) do not interrupt immunotolerance; 6) do not administer aspirin or NSAIDs; 7) do not administer intramuscular injections; 8) do not do routine radiographs of the joint in case of acute hemarthrosis; 9) Do not apply closed casts for fractures; 10) do not discourage the performance of physical activities; 11) do not deny surgery to a patient with an inhibitor; 12) do not perform instrumental deliveries in fetuses with hemophilia; 13) do not use factor IX (FIX) in patients with hemophilia B with inhibitor and a history of anaphylaxis after administration of FIX. CONCLUSION: The information mentioned previously can be useful in the management of hemophilia, from different levels of care. As far as we know, this is the first initiative of this type regarding hemophilia.

The value of HEAD-US system in detecting subclinical abnormalities in joints of patients with hemophilia.

BACKGROUND: Prevention of hemarthrosis is the key factor in the adequate management of people with hemophilia (PWH). If hemarthrosis occurs, early diagnosis of joint damage is essential to make personalized treatments. This study is aimed at gaining an understanding of the ability of point-of-care ultrasound (US) using the `Hemophilia Early Arthropathy Detection with Ultrasound´ (HEAD-US) protocol to detect abnormalities in joints without history of hemarthrosis and clinically asymptomatic joints of PWH. METHODS: The sample included 976 joints from 167 PWH (mean age 24.86 years). Data were collected from routine practice over a 3-year period and analyzed based on history of hemarthrosis and results of clinical (HJHS 2.1) and HEAD-US examinations. RESULTS: In our series, 14% of patients exhibited HEAD-US signs of incipient arthropathy in joints with no history of bleeding and with a HJHS 2.1 score of 0. The most severely involved joint was the right ankle. Synovitis, articular cartilage and subchondral bone damage scores in joints with subclinical findings were slower than in joints with previous hemarthroses or HJHS 2.1 > 1 Conclusions: Our study demonstrates that HEAD-US is better than hemarthrosis records and the HJHS 2.1 scale in detecting the early signs of joint damage in PWH.

Coexistence of Factor VII Deficiency and Hereditary Spastic Paraplegia in Two Siblings.

We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out. Findings from the tests confirmed the diagnosis of HSP (axonal degeneration of the central motor pathway and pyramidal tracts), further complicated by mixed neuropathy. This disease was also inherited in an autosomal recessive pattern with no direct genetic association with factor VII deficiency. Neurological symptoms had gone unnoticed due to a history of multiple joint haemarthrosis; musculoskeletal examination led to a satisfactory differential diagnosis. Haematological prophylaxis was commenced with rFVIIa at 30 mcg/kg, three days per week. A rehabilitation programme was prescribed so that the patient could remain independent for as long as possible, based on orthosis, physiotherapy, and occupational therapy. Response to treatment is currently satisfactory and no new bleeding has presented. As far as we are aware, the coexistence of these two diseases (factor VII deficiency and HSP) has not been previously reported in the literature.