Flemish network on rare connective tissue diseases (CTD): patient pathways in systemic sclerosis. First steps taken.

Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives.

Tamoxifen Metabolism and Efficacy in Breast Cancer: A Prospective Multicenter Trial.

Levels of endoxifen, the most active metabolite of tamoxifen, vary by the highly polymorphic cytochrome P450 (CYP) 2D6 enzyme. We prospectively investigated tamoxifen efficacy by serum endoxifen levels and the tamoxifen activity score (TAS). A prospective observational multicenter study included postmenopausal women with an estrogen receptor-positive breast cancer receiving first-line tamoxifen, 20 mg daily in the neoadjuvant or metastatic setting, recruited between February 2009 and May 2014.

Associations Between Patient and Anthropometric Characteristics and Aromatase Inhibitor Discontinuation.

Background: Toxicity can lead to noncontinuation of adjuvant endocrine therapy. We hypothesized that endocrine therapy-induced changes in grip strength would predict for early discontinuation of therapy because of musculoskeletal toxicity and would be associated with a patient's body mass index.

Patients And Methods: Postmenopausal women with breast cancer starting a new adjuvant endocrine therapy were enrolled in the present study.

Genetic variant in the osteoprotegerin gene is associated with aromatase inhibitor-related musculoskeletal toxicity in breast cancer patients.

Background: Aromatase inhibitor (AI) therapy is associated with musculoskeletal (MS) toxicity, which adversely affects quality of life and therapy adherence. Our objective was to evaluate whether genetic variants may predict endocrine therapy-related MS pain and hot flashes in a prospective observational cohort study.

Patients & Methods: 254 early breast cancer patients starting AI (n = 159) or tamoxifen therapy (n = 95) were included in this genetic biomarker study.

Safety of aromatase inhibitor therapy in breast cancer.

Introduction: Aromatase inhibitor (AI) therapy is the current preferred choice of endocrine therapy in postmenopausal estrogen receptor-positive breast cancer patients thanks to their improved effectiveness compared to tamoxifen. Despite the absence of increased endometrial pathology and deep venous thrombosis seen in tamoxifen-users, the safety profile of AIs consists of a variety of bothersome side effects negatively influencing daily functioning.

Areas Covered: Besides the well-known adverse effects on joints and bone and the vasomotor system, more neglected and latent toxicity like cognitive problems and vulvovaginal atrophy will be discussed.