A qualitative investigation of the experiences of patients living with antiphospholipid antibodies.

OBJECTIVE: Substantial morbidity and mortality affect those with antiphospholipid antibodies (aPLs) and antiphospholipid syndrome (APS), yet patient experiences remain poorly understood. This research investigated patient experiences of aPL/APS diagnosis; effects on daily life; and healthcare and treatment. METHODS: Patients aged ≥18 years with APS per the Revised Sapporo criteria or with ≥1 positive aPL on ≥2 occasions were recruited from a Canadian multidisciplinary APS clinic to participate in semi-structured in-depth interviews. Interviews were conducted virtually and transcribed verbatim for subsequent thematic analysis. RESULTS: Twenty-one patients with aPLs/APS participated; 95.2% were female, mean (SD) age was 45.6 (15.0) years. Most (71.4%) had APS, and 71.4% had aPLs/APS with SLE. Results are presented around patient experiences of aPL/APS diagnosis, effects on daily life, and healthcare and treatment. Participants described medical complications/physical symptoms and the healthcare, lifestyle, and emotional impacts experienced around the time of aPLs/APS diagnosis. In addition to the physical and psychosocial impacts of living with aPLs/APS, patients reported modified leisure activities, altered employment trajectories, and positive and negative impacts on relationships. Impacts on family planning were also a critical component of the aPL/APS lived experience; participants shared experiences of miscarriage, other pregnancy complications, and medication-related challenges (e.g., with low-molecular-weight heparin injections). Challenging aspects of aPL/APS healthcare and treatment were also discussed, particularly related to the lifestyle, physical, and emotional burden of medication use. Although a lack of resources was described, participants expressed trust in healthcare providers when making management decisions or when seeking information. Suggestions for resources included the need for additional medication-related information, examples to help contextualize management behaviours, and additional information for those with aPLs/APS without SLE. CONCLUSION: Patients highlighted how the diverse manifestations of aPLs/APS, accentuated by management-related challenges, impose considerable physical and psychosocial burdens. Results will inform the development of patient resources aligned with patient priorities.

Understanding and Managing Corticosteroid-Induced Osteoporosis.

Glucocorticoids are effective immunosuppressants used in a wide variety of diseases. Their use results in secondary osteoporosis in about 30-50% of chronic glucocorticoid users. Glucocorticoids cause a rapid decline in bone strength within the first 3-6 months mostly due to increased bone resorption by osteoclasts. This is followed by a more gradual loss of bone partly due to decreased osteoblastogenesis and osteoblast and osteocyte apoptosis. The loss of bone strength induced by glucocorticoids is not fully captured by bone mineral density measurements. Other tools such as the trabecular bone score and advanced imaging techniques give insight into bone quality; however, these are not used widely in clinical practice. Glucocorticoid-induced osteoporosis should be seen as a widely preventable disease. Currently, only about 15% of chronic glucocorticoid users are receiving optimal care. Glucocorticoids should be prescribed at the lowest dose and shortest duration. All patients should be counselled on lifestyle measures to maintain bone strength including nutrition and weight-bearing exercise. Pharmacological therapy should be considered for all patients at moderate to high risk of fracture as there is evidence for the prevention of bone loss and fractures with a favourable safety profile. Oral bisphosphonates are the current mainstay of therapy, whereas osteoanabolic agents may be considered for those at highest risk of fracture.

Romosozumab in the treatment of osteoporosis.

Osteoporosis is a disease characterized by weakening of the bone architecture, which leads to an increased risk of fracture. There has been interest in the development of osteoanabolic agents that can increase bone mass and reverse the deteriorating architecture of osteoporotic bone. Romosozumab is a new agent for osteoporosis that both promotes bone formation and inhibits bone resorption. It is a monoclonal antibody that inhibits the activity of sclerostin, which allows the Wnt pathway to promote osteoblastogenesis and inhibit the activity of bone-resorbing osteoclasts. In clinical trials, it has proven to be superior to other agents in terms of increasing bone mineral density and reducing the incidence of fractures. This review will highlight the pharmacology, clinical efficacy and safety profile of romosozumab and suggest where this medication may fit within our current management of osteoporosis.

Case Report of Childhood-Onset Psychosis in a Patient with a Known WNT10A Mutation.

OBJECTIVE: To report on a patient with childhood-onset psychosis at age 12 with a known WNT10A mutation. METHODS: Case report. RESULTS: The patient is a 12-year-old male who presented with an acute onset of psychosis in the context of a known WNT10A mutation. CONCLUSION: WNT genes have only been previously linked to schizophrenia on a theoretical basis. To our knowledge, this is the first case report of an association between a childhood-onset psychosis and a WNT10A mutation. We conclude that there is a possibility that WNT10A may be one of the many genes contributing to the development of childhood-onset schizophrenia.

OBJECTIF: Faire rapport sur un patient chez qui la psychose est apparue à 12 ans et qui a une mutation connue du WNT10A. MÉTHODES: Rapport de cas. RÉSULTATS: Le patient est un garçon de 12 ans qui a présenté un début de psychose aiguë dans le contexte d'une mutation connue du gène WNT10A. CONCLUSION: Les gènes WNT n'ont précédemment été liés qu'à la schizophrénie sur une base théorique. À notre connaissance, ceci est le premier rapport de cas d'une association entre une psychose apparue dans l'enfance et une mutation du WNT10A. Nous en concluons qu'il existe une possibilité que le WNT10A soit l'un des nombreux gènes qui contribuent au développement de la schizophrénie apparue dans l'enfance.