Background Beta-thalassemia major is accompanied by progressive multiple organ systems involvement due to the disease pathophysiology as well as iron overload from blood transfusions on a regular basis. Rheumatologists are not frequently involved in the multidisciplinary management of the disease, in which rheumatologic complications are relatively common.
Objectives To highlight the rheumatologic complications of beta-thalassemia, which include musculoskeletal manifestations such as arthritis and arthropathies, joint effusions, osteoporosis, bone fractures, and arthralgias as well as connective tissue diseases such as pseuoxanthoma elasticum (PXE).
Methods We searched the literature through GoogleScholar and PubMed for all publications reporting on rheumatologic manifestations in beta-thalassemia. The following keywords were used: thalassemia, rheumatoid arthritis, osteoarthritis, iron-overload, septic arthritis, deferiprone-related arthropathy, crystal arthritis, effusions, osteoporosis, fractures, bone marrow hyperplasia, scoliosis, aseptic necrosis, arthralgia, myalgia, and pseudoxanthoma elasticum. All reports published between 1970 and 2016 were included.
Results Arthralgia and low back pain are among the most common musculoskeletal manifestations of thalassemia. Many studies are reporting an increased rate of RA in hemoglobinopathies such as thalassemia, the association of which may be attributed to genetic factors. Arthritis may develop secondary to iron deposition in the synovial tissue or due to iron chelators such as deferiprone, which may provoke a self-limited arthritis due to synovial destruction sustained by free radicals production during iron interchange. Several studies reported increased incidence (16%>30%) of arthropathy in beta-thalassemia patients on deferiprone therapy. Multiple etiologies contribute to osteoarthritis in thalassemia patients such as bone marrow expansion, iron deposition within the joint, and hypoparathyroidism. Only few cases of Salmonella enteriditis septic arthritis were described in thalassemia patients. The associations between osteoporosis and hypogonadism, diabetes, and vitamin D and calcium deficiency were found significant. Skin lesions of PXE were reported in up to 16% in beta-thalassemics.
Conclusions The pathophysiology of thalassemia and subsequent blood transfusions affect almost every organ system. Rheumatologic manifestations ranging from musculoskeletal complications to connective tissue diseases are common among thalassemia patients. Rheumatologists are highly encouraged to be involved in the multidisciplinary approach for the management of beta-thalassemia.
Disclosure of Interest None declared