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Miscellaneous arthropathies

Key Points ■ Localized arthritis can be caused by metastatic disease, cartilaginous tumors, foreign body synovitis, synovial osteochondromatosis, pigmented villonodular synovitis, and palindromic rheumatism. ■ Polyarthritis can be caused by carcinomatous polyarthritis, bypass arthritis, hypertrophic osteoarthropathy, intermittent hydrarthrosis, multicentric reticulohistiocytosis, SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis), and Whipple disease. ■ Systemic syndromes can be associated with angioimmunoblastic T-cell lymphoma, Castleman disease, and leukemia. ■…

Digital clubbing and hypertrophic osteoarthropathy

Key Points ■ Hypertrophic osteoarthropathy is a syndrome characterized by abnormal proliferation of the skin and osseous tissues at the distal parts of the extremities. ■ Three features are typically present: a peculiar bulbous deformity of the tips of the digits conventionally described as clubbing , periostosis of the tubular bones, and synovial effusions. History Digital clubbing is one of the oldest clinical signs in medicine.…

Gaucher disease

Key Points ■ Gaucher disease (GD) results from the accumulation of glucosylceramide in organs and tissues throughout the body in characteristic storage cells, namely “Gaucher cells,” which are transformed macrophages. ■ The disease is caused by mutations in the β-glucocerebrosidase gene (GBA1) , leading to a loss of activity of the lysosomal glucocerebrosidase, with autosomal recessive transmission. ■ The most common inherited glycolipid storage disease, GD…

Hemochromatosis

Key Points ■ An arthropathy, chondrocalcinosis, and osteoporosis are complications of hereditary hemochromatosis (HH). ■ The hemochromatosis arthropathy usually mimics osteoarthritis. It is a common finding as it affects up to 25% of patients. MCPs 2,3 and ankle involvement is evocative of the disease. ■ Chondrocalcinosis accompanies the arthropathy in about 30% of cases. ■ Osteoporosis is a recognized feature of HH with a frequency of…

Rheumatologic manifestations of hemoglobinopathies

Key Points ■ Sickle cell disease (SCD) and thalassemia are the main hemoglobinopathies associated with rheumatic manifestations. Both are genetic inherited diseases. ■ Sickle cell disease results from structurally abnormal hemoglobin, whilst thalassemia is due to decreased synthesis of structurally normal hemoglobin. ■ Vasoocclusion and chronic hemolysis of sickled cells are the central pathologic mechanism of SCD. ■ The main rheumatic complications of SCD include acute…

Hemophilia-associated arthritis

Key Points Hemophilia ■ Hemophilia is an X-linked inherited bleeding disorder caused by a deficiency of factor VIII (hemophilia A) or IX (hemophilia B). ■ Bleeding occurs either spontaneously or with minor trauma. Recurrent hemarthroses can lead to progressive arthritis, particularly affecting the ankles, knees, and elbows. ■ Treatment involves adequate factor replacement. Prophylactic treatment from a young age is beneficial in preventing hemorrhage and preserving…

Rheumatoid manifestations of endocrine and metabolic diseases and treatments

Key Points ■ Musculoskeletal abnormalities occur commonly in association with endocrine disease. ■ Glandular dysfunction involving the pituitary, pancreas, thyroid, parathyroid, or adrenals may be manifested as rheumatologic disorders. ■ Classic, nonspecific, or unusual rheumatic abnormalities may occur. ■ Muscle tendon, bone, and joint abnormalities are more likely after periods of metabolic imbalance. ■ Specific clinical problems (i.e., widened joint spaces, Dupuytren’s contracture, osteonecrosis, periosteal bone…

Osteonecrosis

Key Points ■ Osteonecrosis results from cell death in components of bone: hematopoietic fat marrow and mineralized tissue. ■ Osteonecrosis in its prototypical form results from impairment of the blood supply to the femoral head; consequently, the terms avascular necrosis and aseptic necrosis are common synonyms for this disorder. ■ Clinical and histopathologic aspects of osteonecrosis can be late-stage manifestations of other conditions such as subchondral…

Neuropathic arthropathy

Key Points ■ Neuropathic arthropathy is a progressive, destructive joint disease associated with sensory loss. ■ It is characterized by relative lack of pain resulting from sensory neuropathy and by atrophic changes on plain radiography. ■ Bony swelling and soft tissue enlargement, effusion, laxity, instability, and deformity occur. ■ Common sites of joint involvement are the midfoot, ankle, and knee, and less commonly, the hip, spine,…

Diffuse idiopathic skeletal hyperostosis

Key Points ■ This chronic, age-related condition is characterized by new bone growth, especially at entheses. ■ Radiologic findings are characteristic but may be confused with those of spondyloarthritis. ■ Few symptoms are related to diagnostic changes in the thoracic spine. ■ There is increased risk of important cervical and lumbar arthropathy, enthesopathy, and neural impingement. ■ An association exists with obesity, type 2 diabetes, gout,…

Paget disease of bone

Key Points ■ Paget disease of bone is a focal disorder of bone remodeling characterized by accelerated bone resorption coupled with formation that results in bony enlargement and deformity. ■ The disease may occur in one or more bones; has a predilection for the skull, spine, pelvis, and lower extremities; and is a disease of the adult skeleton that increases in prevalence with age and is…

Osteomalacia, rickets, and renal osteodystrophy

Key Points ■ Osteomalacia is caused by a defect in the mineralization of osteoid laid down by mature osteoblasts. The most common causes of osteomalacia and rickets are vitamin D deficiency and calcium deficiency. Any acquired or inherited disorder that alters absorption of phosphorus in the intestine and enhances excretion of phosphorus via the kidneys will also cause osteomalacia and rickets. ■ Treatment of vitamin D…

Glucocorticoid-induced osteoporosis

Key Points ■ Glucocorticoids are commonly prescribed, and even chronic low doses can have deleterious effect on bone. ■ Fracture risk is correlated to the dose and duration of glucocorticoid exposure. ■ Multiple classes of medications have been shown to have efficacy in the prevention and treatment of glucocorticoid-induced osteoporosis. ■ Proper screening and risk stratification is essential to minimize the care gap. Introduction Oral glucocorticoids…

Management of osteoporosis

Key Points ■ It is estimated that more than 9% of adults older than the age of 50 years have osteoporosis at either the femoral neck or lumbar spine. ■ In Canada, the lifetime risk for hip fracture is estimated to be 8.9% for women and 6.7% for men. ■ Strategies to evaluate and treat men and women at risk are critical to reduce fracture burden.…

Biochemical markers of bone turnover in postmenopausal osteoporosis

Key Points ■ Bone turnover comprises two processes: the removal of old bone (resorption) and the laying down of new bone (formation). ■ N-terminal propeptide of type I procollagen (PINP) and C-telopeptide of type I collagen (CTX-I), markers of bone formation and resorption, respectively, are recommended for clinical use. ■ Bone turnover markers (BTM) are subject to several sources of variability, including food intake (resorption decreases)…

Pathophysiology of osteoporosis

Key Points ■ Osteoporosis is a systemic skeletal disease characterized by decreased bone strength and increased susceptibility to fractures. The reduction in bone strength is a function of reduced bone mass and abnormal bone quality. Determinants of bone quality include bone microarchitecture, geometry, turnover, mineralization, and osteocyte viability. ■ Peak bone mass is highly heritable, with genes controlling 60% to 85% of the variance at different…

Clinical evaluation and clinical features of osteoporosis

Key Points ■ Osteoporosis is a common disease that affects bone and is associated with increased risk of fragility fractures. ■ Fractures occur most frequently at the spine, hip, and wrist, but fractures related to osteoporosis also occur at other skeletal sites. ■ Short- and long-term consequences of osteoporotic fractures include increased morbidity and mortality, pain, physical impairment, increased cost of medical care, decreased quality of…

Epidemiology and classification of osteoporosis

Key Points ■ Osteoporosis is a systematic skeletal disorder characterized by low bone mass, microarchitectural deterioration of bone tissue, and susceptibility to fracture. It can be divided into primary and secondary forms. ■ The most widely used definition of osteoporosis is that of the World Health Organization: bone mineral density (BMD) 2.5 standard deviations or greater below the young normal mean. ■ Even though BMD and…

Basic calcium phosphate crystal deposition disease

Key Points ■ Calcific periarthritis is characterized by periarticular deposits of calcific material (hydroxyapatite), which may also result in calcific tendinitis or bursitis. ■ In calcific periarthritis, the shoulder is the main site affected, but deposits have been described near many other joints. The deposits are often inert and asymptomatic. ■ Deposits can rupture and cause local acute, crystal-induced inflammation; they may also be associated with…

Calcium pyrophosphate deposition disease (pseudogout)

Key Points ■ Calcium pyrophosphate deposition disease (CPDD) is a common and underrecognized form of arthritis in older adult patients. ■ The clinical presentation of CPDD is broad and ranges from an acute monoarticular inflammatory arthritis to a chronic polyarticular noninflammatory arthritis. ■ CPDD can be sporadic or familial and is associated with several metabolic disorders, including hyperparathyroidism, hemochromatosis, hypophosphatasia, and hypomagnesemia. ■ Accurate diagnosis of…