We present the case of a 48-year-old premenopausal woman with right lumbosciatalgia secondary to osteoporosic vertebral collapses. Two of her three offsprings, a 31-year-old man and a 16-year-old woman, had chronic dorsolumbalgia, the study of which suggested the diagnosis of minor beta-thalassemia. As opposed to thalassemic osteoarthropathy, frequently observed in the forms of "major" and "minor" beta-thalassemia, rheumatic manifestations have almost never been described in the "minor" forms. We highlight the possibility of symptomatic osteoporosis as the first manifestation and we review the locomotive disorders associated to this hemoglobinopathy.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Chronic kidney disease-mineral and bone disorder: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney Int
January 2025
Laboratório de Fisiopatologia Renal (LIM 16), Nephrology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil. Electronic address:
In 2017, Kidney Disease: Improving Global Outcomes (KDIGO) published a Clinical Practice Guideline Update for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Since then, new lines of evidence have been published related to evaluating disordered mineral metabolism and bone quality and turnover, identifying and inhibiting vascular calcification, targeting vitamin D levels, and regulating parathyroid hormone. For an in-depth consideration of the new insights, in October 2023, KDIGO held a Controversies Conference on CKD-MBD: Progress and Knowledge Gaps Toward Personalizing Care.
View Article and Find Full Text PDFMinimally Invasive Surgical Approach in Granulomatosis with Polyangiitis Complicated with Intramural Descending Aorta Hematoma Followed by Aortic Wall Rupture.
Diagnostics (Basel)
January 2025
Department of Internal Medicine and Gastroenterology, "Carol Davila" University of Medicine and Pharmacy, 020021 Bucharest, Romania.
: Granulomatosis with polyangiitis (GPA) represents a rare autoimmune disease with granulomatous inflammation, tissue necrosis, and systemic vasculitis of the small and medium blood vessels. Although the clinical elements vary, aortic involvement is exceptional and it represents a challenge that requires a rapid intervention with the potential of displaying a fulminant evolution. : We report a 64-year-old male with an 18-year history of GPA who presented atypical low back pain.
View Article and Find Full Text PDFThe Diagnosis and Therapy of Osteoporosis in Gaucher Disease.
Calcif Tissue Int
January 2025
Fondazione FIRMO Onlus, Italian Foundation for the Research On Bone Diseases, Florence, Italy.
Gaucher disease is a rare lysosomal storage disorder characterized by the accumulation of glucocerebroside lipids within multiple organs due to a deficiency of the lysosomal enzyme (acid β-glucosidase). It is an inherited autosomal recessive disease. The onset of symptoms can vary depending on disease type and severity, with milder forms presenting in adulthood.
View Article and Find Full Text PDFGut-resident Tregs (GTregs) play a pivotal role in maintaining bone health under post-menopausal osteoporotic conditions.
J Leukoc Biol
January 2025
Department of Biotechnology, All India Institute of Medical Sciences (AIIMS), New Delhi-110029, India.
Osteoporosis is a skeletal condition characterized by the deterioration of bone tissue. The immune system plays a crucial role in maintaining bone homeostasis and combating the development of osteoporosis. Immunoporosis is the term used to describe the recent convergence of research on the immune system's role in osteoporosis.
View Article and Find Full Text PDFMusculoskeletal complications in sickle cell disease: Pathophysiology, diagnosis and management.
Best Pract Res Clin Rheumatol
January 2025
ICMR-National Institute of Research in Tribal Health, Jabalpur, India; Academy of Scientific and Innovative Research (AcSIR), Ghaziabad, India; Model Rural Health Research Unit, Jheet, Durg, India. Electronic address:
Sickle cell disease (SCD) is a mono-genic disorder causing chronic hemolysis, anemia, and vaso-occlusion, leading to musculoskeletal complications such as osteonecrosis, osteoporosis, and bone fractures affecting 50-70% SCD patients. These complications result from a complex interplay of genetic and physiological factors, including abnormal hemoglobin production, chronic inflammation, and oxidative stress. This review discusses the pathophysiology, pre-clinical symptoms, and clinical manifestations of musculoskeletal complications in SCD, as well as current treatment options, including pharmacological interventions, surgical procedures, and bone marrow transplantation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!