What is rheumatology?
A medical science devoted to the study of rheumatic and musculoskeletal disorders, which include autoimmune disorders, inflammatory arthritides, noninflammatory arthritides, diffuse and local soft tissue disorders, injuries, and osteoporosis.
Most of the rheumatic diseases can be grouped into 10 major categories:
Rheumatoid arthritis (RA) is a disease with predominant manifestations involving joints. Extraarticular manifestations appear during the later stages of disease. The onset of manifestations may be acute/intermediate, chronic (insidious) and rarely palindromic. The involvement of joint/s may also vary from single to multiple joints. Monoarticular or oligoarticular, involving one to three joints for substantial period, is less common (1 to 15%) in RA patients. The usual presentation is polyarticular, symmetrical and often having the initial involvement of small joints of hands/feet. The polyarticular presentation accounts for more than 80% of the manifestations. The remaining 10–15% may have non-classical presentations like oligoarticular, predominantly having arthritis of large joints, shoulders and hip. Rarely, the patients may present with dominant extra-articular features like fever, scleritis, vasculitis and carpel tunnel syndrome. Sometimes, the initial presentation may be bursitis and tendinitis. Subsequently, the disease may progress to the remaining joints. RA can present with diverse clinical features but the most common presentation is polyarthritis of small joints.
Spondyloarthropathies or spondyloarthritides are constellation of inflammatory arthritides including ankylosing spondylitis (AS), non-radiographic axial SpA (nr-axSpA), peripheral SpA, reactive arthritis (Reiter’s syndrome), arthritis/spondylitis associated with psoriasis, arthritis/spondylitis associated with inflammatory bowel diseases (IBD) and juvenile onset SpA. There is an overlap of symptoms and complications within this constellation of disorders. Inflammatory back pain, peripheral arthritis, anterior uveitis and enthesitis are the prime clinical features.Patients with psoriasis or IBD may present with skin psoriasis or colitis as presenting symptoms.Manifestations involving other organs are very rare. Most often, there is a lag in time between the onset of symptoms and diagnosis of spondyloarthropathies.
Juvenile idiopathic arthritis (JIA) is the commonest rheumatologic condition that afflicts children. This condition has many subcategories of arthritis included under its umbrella and the presentation of these patients is thus varied.
The clinical spectrum of patients is protean and may be
Systemic Lupus Erythematosus (SLE) is a multisystem prototype autoimmune heterogenous illness characterized by myriad of systemic features primarily due to immune dysregulation at multiple levels of the immune cascade with hyperactivation of B cell activity and diminished T cell suppressor activity leading to increased tissue specific and nontissue specific circulatory antibodies. Having highly variable features like constitutional symptoms, glomerulonephritis, neuropsychiatric disease and cutaneous manifestation SLE is hardly curable, but most of the patients experience remission and their survival has improved over the years.
Sjögren’s syndrome (SS) is an autoimmune epithelitis affecting primarily the exocrine glands and epithelium, characterized by dry eyes and dry mouth. SS can be seen alone (primary SS) or in association with another autoimmune disease like rheumatoid arthritis (RA) or systemic lupus erythematosus (SLE) when it is called secondary SS. Prevalence varies from 0.5 to 5%. This is a disease predominantly affecting middle-aged females.
Osteoarthritis (OA) is the commonest joint disease affecting human beings and an important cause of disability. It is a disease of the joint as a whole in which all parts of the joint are involved. There is focal loss of cartilage with accompanying periarticular bone response in the form of subchondral bone sclerosis and attempted new bone formation by way of bony over-growths called osteophytes. This may be preceded by bone marrow oedema and meniscal damage, and may be associated with inflammation of the synovium. OA usually presents, clinically, as joint pain and crepitus in the elderly. Radiologically it is characterised by decreased joint space (cartilage space), osteophytes, eburnation and a variety of deformities that develop as the disease progresses. On MRI it is characterized by presence of bone marrow lesions, meniscal damage, focal cartilage damage, and osteophytes. Its progress is variable and in some patients it is relentless, leading to joint failure (end stage joint disease) necessitating joint replacement.
Osteoporosis is a metabolic bone disease characterized by reduced bone mass and micro-architectural deterioration in bone tissue resulting in an increased susceptibility to fragility fractures. Common sites for fragility fractures are the spine, hip and the wrist. Osteoporosis is a significant public health problem in many parts of the world including India. The importance of osteoporosis can be gauged by the fact that a woman’s lifetime risk of hip fracture equals the combined risk of breast, uterine and ovarian cancers, and the risk of dying from hip fracture equals mortality from breast cancer. Men account for nearly 20–30% of all hip fractures that occur, and one-third of these men do not survive more than a year. The economic consequences of osteoporosis continue to mount as the lifespan of populations around the world increases. The disease, unfortunately, has attracted a little attention and even less action in our country. The effectiveness of treatment strategies currently available mandates that osteoporosis be diagnosed and treated much before the occurrence of complications like fracture.
Gout is characterized by deposition of monosodium urate monohydrate (MSU) in synovial fluid and other tissues. It is the most common form of inflammatory arthritis, with a prevalence of 3.9% in the US,1 0.9% in France,2,3 1.4–2.5% in the UK,4,6 1.4% in Germany,5 and 3.2% (European ancestry)—6.1% (Maori ancestry) in New Zealand.7 The development of gout requires three distinct steps: 1. Long-standing hyperuricaemia, 2. Formation of monosodium urate monohydrate (MSU) crystals and 3. Interaction between MSU crystals and the inflammatory system.
Mixed connective tissue disease (MCTD) was first described by Gordon C Sharp and his colleagues in 1972. It is characterized by overlapping clinical features of systemic lupus erythematosus (SLE), scleroderma and polymyositis (PM)/dermatomyositis (DM) and high serum titres of antiU1RNP antibodies.
On the other hand, overlap syndrome is a condition where patient has clinical features which fulfil the classification criteria for more than one recognized rheumatic disease. Undifferentiated connective tissue disease (UCTD) is a condition where patient do not fulfil the classification criteria of any defined rheumatic disease. On follow-up these patients might develop new symptoms which might fulfil the criteria or they might continue to be the same and not progressing to any specific rheumatic disease. Such patients usually have positive ANA test results by indirect immunofluorescence assay.
The word “Scleroderma” is derived from two Greek words, “sclero” meaning hard and “derma” meaning skin. Scleroderma or systemic sclerosis (SSc) is an autoimmune disorder of unknown etiology characterized by fibrosis and tightening of skin as well as microvascular injury in affected organs. SSc may affect multiple organs simultaneously or at different times and thus has a wide spectrum of clinical manifestations and severity. The involved target organs include skin, muscles, joints, nerves, vasculature, kidney, heart, lung and gastrointestinal tract. The disease can have limited cutaneous involvement or diffuse cutaneous involvement. Diffuse cutaneous SSc is defined as skin thickening proximal to the elbows and knees (upper arm, thighs, anterior chest and abdomen) that is documented at any time during the illness. Limited cutaneous SSc is defined as skin thickening limited to distal extremities and face throughout the illness.
Idiopathic inflammatory myopathies (IIM) are a heterogeneous group of autoimmune myopathies in which inflammation occurs in the skeletal muscles resulting in weakness, hence the term “myositis”. In addition to the muscle involvement, it often involves other organ systems and tissues like skin, pulmonary, cardiac and gastrointestinal systems. The four most common inflammatory myopathies are polymyositis (PM), dermatomyositis (DM), inclusion body myositis (IBM) and immune-mediated necrotizing myopathy (IMNM).
TA is a rare form of primary systemic vasculitis that appears to be commoner in Asia than Europe or North America. Cardiovascular system is the major organ involved. Despite the term “pulseless disease”, the predominant findings in TA are asymmetric pulse. Absent peripheral pulses occur late in the course of the disease. While 5-year survival rates exceed 90%, the disease has a high incidence of residual morbidity.
Polymyalgia rheumatica (PMR) and giant cell arteritis (GCA) are closely associated inflammatory conditions that frequently occur together. PMR is among the most common inflammatory rheumatologic diseases in the elderly while GCA is the most common idiopathic inflammatory disease of the vessels in this age group. Immunogenetics of the two show some overlap but also some clear differences. There are immunogenetic similarities between the two but some very clear differences too have been demonstrated. Clinical features of PMR are pain and stiffness, in the shoulders, neck, and in pelvic girdles specifically in the mornings. It may be followed by a systemic inflammatory syndrome and a rise in the levels of acute phase reactants. There is a rapid response to glucocorticoids, which has historically been considered a criteria for diagnosis. GCA also known as Horton’s disease or temporal arteritis is a vasculitis of medium and large-sized arteries, is the most common vasculitis in the elderly. Presenting symptomatology includes a systemic inflammatory syndrome, manifestations secondary to vascular involvement, and sometimes cranial ischaemic complications in form of loss of vision and stroke.
According to the 2012 revised Chapel Hill nomenclature polyarteritis nodosa (PAN) is defined as a necrotizing arteritis of medium or small arteries without glomerulonephritis or vasculitis in arterioles, capillaries or venules and not associated with antineutrophil cytoplasmic antibodies.1 PAN is a rare disease, with an incidence of about 3–4.5 cases per 100,000 population annually. Older estimates placed the prevalence as high as 7.7 cases per 100,000 population in Alaskan Eskimos hyperendemic for hepatitis-B virus (HBV) infection. PAN can solely involve a single organ or present systemically. It may affect any organ, but for unknown reasons it spares the pulmonary and glomerular arteries. Medium-sized and small muscular arteries, preferentially at vessel bifurcations are affected resulting in micro-aneurysm formation, thrombosis, aneurysmal rupture with haemorrhage, and consequently organ ischaemia or infarction. Rarity of PAN, diverse clinical presentation and absence of definitive diagnostic criteria contribute to a delayed diagnosis. PAN has been widely described in the context of HBV while idiopathic or classical PAN (cPAN) is not so common. HBV-PAN may occur at any time during the course of acute or chronic hepatitis B infection, although it typically occurs within six months of infection. The activity of HBV-PAN does not parallel with that of hepatitis. With the development HBV vaccine, the percentage of patients with HBV-PAN has decreased from 36% to less than 5%.
Microscopic polyangiitis (MPA) is an idiopathic autoimmune necrotizing vasculitis of small vessels with anti-neutrophil cytoplasmic antibody (ANCA) positivity in more than 75% of cases. Because it can lead to both pulmonary capilliaritis and glomerulonephritis, MPA is a primary cause of pulmonary-renal syndrome. Previously classified under PAN, MPA is now defined as a distinct clinical entity and grouped along with granulomatosis with polyangiitis(GPA) and eosinophilic granulomatosis with polyangiitis under ANCA-associated vasculitis (1994 Chapel Hill classification criteria).The average age at onset is about 50 years. The annual incidence is estimated to be 3–24/million and prevalence 25–94/million. Neutrophil activation and chemotaxis due to the fixation of ANCA to membranous myeloperoxidase (MPO) leads to the release of reactive oxidative species, proteinases and cytokines resulting in endothelial and tissue injury (vasculitis).
The disease may present with very diverse manifestations, ranging from non-specific constitutional symptoms like fever, malaise, anorexia and weight loss to severe multisystem involvement leading to multiple organ failures or death. The characteristic clinical manifestations include upper respiratory tract involvement, lung infiltrates or cavities and pauci-immune glomerulonephritis in kidneys.
The clinical features of EGPA progress through three different phases, which might not be distinguishable all the time due to overlap in time period. The first phase is the prodrome phase, characterized by atopy, allergic rhinitis and new onset asthma. The second phase is eosinophilic phase, characterized by blood eosinophilia (>10%) and tissue eosinophilia predominantly in lungs.
Henoch-Schönlein purpura (HSP) is one of the common type of immune complex mediated vasculitis, primarily involving small blood vessels characterized by IgA deposition. Though it can affect people of any age, most cases occur in children of age 2 to 11 years. In adults, the disease is more severe than in children. In the 2012, Chapel Hill consensus conference (CHCC) for nomenclature of vasculitis the eponym “Henoch-Schönlein purpura” has been replaced by the name immunoglobulin A vasculitis (IgAV), in recognition of the pathogenic role and pathognomonic deposition of IgA in the skin, gastrointestinal tract, kidney and other organs that is a hallmark feature of this disease.1 CHCC 2012 defines IgA vasculitis (HSP) as vasculitis with IgA1-dominant immune deposits, affecting small vessels (predominantly capillaries, venules, or arterioles).1 HSP (IgAV) is a systemic illness with characteristic involvement of skin, gastrointestinal tract, and joints. However, IgAV can occur isolated to skin, analogous to IgA nephropathy without systemic involvement.
Cutaneous vasculitis manifests with dermatologic features such as palpable purpura, urticarial lesions, nodules, ulcers or livedo reticular is due to inflammation of small to medium sized vessels in the skin.1 It is associated with increased risk of vasculitis of internal organs.
Clinical syndromes associated with cutaneous vasculitis
Immune complex mediated
Pauci-immune
Behçet’s syndrome is an inflammatory relapsing disease of unknown cause that has a marked geographic variation. It is characterized by a constellation of clinical features including oral and genital ulcerations, eye involvement and other major system involvements.
The cardinal systems involved by this disease and consequently, the specialists which most commonly encounter them include the skin and mucocutaneous (often present to dermatologists), eye (ophthalmologists), arthritis (rheumatologists), cardiovascular, neurological and gastrointestinal (respective specialities). The spectrum of this disease is vast, ranging from patients having minor (though irritating) features like recurrent apthous ulcers to patients having life-threatening or organ-threatening manifestations like retinitis, brainstem lesions and pulmonary aneurysms.
Crystal induced arthropathies include a variety of disorders where inflammation of the joint and soft tissues occurs due to deposition of various crystals. These include mainly uric acid and calciumcontaining crystals like calcium pyrophosphate dehydrate (CPPD) and basic calcium phosphate (BCP). Besides, oxalate crystals may accumulate and cause joint inflammation in patients with renal failure whereas cholesterol crystals may get deposited in joints of longstanding rheumatoid arthritis or osteoarthritis.
CPPD disease is characterized by deposition of calcium pyrophosphate (CPP) crystals mainly in the fibrocartilage and hyaline cartilage of joints leading to inflammation and calcification. This is usually associated with aging, degenerative joint diseases and a variety of genetic and metabolic disorders (Table 55.1).The disease prevalence increases with age and CPP crystals are found in joints of 10–15% of people between 65 and 75 years and 30–50% of people over the age of 85 years.
Metabolic bone diseases are a heterogeneous group of disorders which affects the strength of the bones. Usually, these disorders occur due to abnormalities of minerals (calcium, magnesium, and phosphorus), vitamin D, and bone mass or bone structure. Common manifestations are altered serum calcium level and/or skeletal failure. Worldwide the most common metabolic bone disease is osteoporosis, essentially a disease of elderly, can lead to fragility fracture if untreated.1 Other common disorders are vitamin D deficiency leading to osteomalacia or rickets, renal osteodystrophy, parathyroid disorders, Paget’s disease, bone disease due to gastrointestinal and hepatic disorders, and chemotherapy-induced bone loss. These disorders are generally reversible when underlying abnormalities are appropriately treated, and should be distinguished from genetic bone disorders which occur due to abnormalities in certain signaling cascades or specific cell types.
Adult onset Still’s disease (AOSD) refers to a symptom complex of high spiking fever, evanescent rash and arthritis with markedly elevated acute phase response. First described by Bywaters in 1971, this uncommon disease is remarkable for its severity that remains a diagnostic and therapeutic challenge for rheumatologists.1 It shares many features in common with the systemic onset variant of juvenile idiopathic arthritis (sJIA) which is seen in the pediatric age group.
Sarcoidosis is a multisystem granulomatous disorder, with causative agent not proven till date. The available evidence suggests that individuals with a susceptible genotype, when exposed to one or more potential causative antigens may develop the disease. Sarcoidosis is characterized by a sustained inflammatory response that ensues after the disease initiation resulting in granuloma formation. Sarcoidosis is a heterogeneous disease, with a varied clinical presentation. Individuals with sarcoidosis can have a spectrum of clinical manifestations ranging from being an incidental finding on the chest radiograph to a potentially life-threatening disease, requiring aggressive therapy.
First described by Rudolph Virchow in 1854, Amyloidosis is a disease of protein misfolding, characterised by extracellular deposition of amyloid fibrils that affects normal tissue function.1 Amyloid fibrils, that are around 10 nm in diameter, are characterized by insoluble, rigid and an unbranching β pleated sheet structure. On basis of organ/tissue involved amyloidosis can be classified as localized (fibril deposition limited to one site or organ) or systemic.
Fibromyalgia is a chronic disease characterized by widespread pain, fatigue and varying degrees of other overlapping functional symptoms. It has a prevalence of in the general population though community based surveys have estimates of around 5%. It predominantly affects women and incurs considerable distress at the personal level, and economic and social burden at societal level. Early descriptions of “neurasthenia” and “fibrositis” drew considerable scepticism and was believed to be psychogenic until Moldofsky et al. reported the association with tender points and widespread pain with characteristic sleep abnormalities and paved the way for the 1990 ACR classification criteria. However, there were practical challenges in the use of tender points in the diagnosis as it required considerable practice, had poor reproducibility, and reliability in the hands of non-experts besides recognition of “fibromyalgianess” as a continuous spectrum rather than a discrete entity motivating the development of 2010/2016 criteria.
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