Rheumatology

Overview Vasculitis refers to inflammation of blood vessels. Vasculitis is a very broad term that in its simplest form refers to inflammation of blood vessels. There are many different causes of vasculitis and they usually present in a myriad of ways. The exact cause of vasculitis is unknown and the underlying mechanisms leading to blood vessel inflammation vary between conditions (e.g. antibody-mediated, T-cell mediated). There has been a lot of work on classifying vasculitides into different types. They are a very heterogenous group of conditions that can affect multiple organs and in some cases be life-threatening. Several important terms are used

Overview Systemic sclerosis is a chronic, multi-system disorder that is characterised by widespread vascular dysfunction and fibrosis. Systemic sclerosis (SSc) is a chronic multi-system disorder. The condition is heterogeneous and can present with a range of clinical manifestations involving multiple organs. One of the hallmark features of SSc is thickened, hardened skin known as scleroderma. The term scleroderma is often used synonymously with SSc. Disease subtypes SSc may be divided into several disease subtypes based on the extent of skin involvement and pattern of organs affected. Limited cutaneous systemic sclerosis (lcSSc): characterised by sclerosis (hardening) of the skin in the distal limbs. Some

Overview Systemic lupus erythematosus (SLE) is a multi-system, inflammatory, autoimmune disorder. SLE, also shortened to lupus, is a multi-system condition and therefore may present in a myriad of ways. Typical manifestations include characteristic skin rashes, arthralgia and renal impairment. Management is complex but involves symptomatic relief, immunosuppressive agents and more novel biologics. Epidemiology SLE is thought to affect almost 1 in 1000 individuals in the UK. It often presents in women of reproductive age, with an average age at diagnosis of 48.9, but can manifest at any age. The condition is more common in women and those of Afro-Caribbean or South Asian

Overview The spondyloarthropathies refer to a diverse group of conditions associated with the HLA-B27 gene. The spondyloarthropathies (SpAs) refer to a diverse group of conditions associated with the HLA-B27 gene. They are characterised by chronic inflammation affecting the axial skeleton (i.e. spine and sacroiliac joints) and/or peripheral joints. Due to the predominant axial skeletal involvement, they may be collectively termed ‘axial spondyloarthropathies’ (AxSpA). These conditions include: Ankylosing spondylitis (AS) Psoriatic arthritis (PsA) Reactive arthritis (ReA) IBD-associated spondyloarthropathy The SpAs are characterised by pain, stiffness, and loss of mobility. They can present with numerous musculoskeletal features: Spinal & sacroiliac joint inflammation Peripheral arthritis Dactylitis:

Overview Sjögren’s syndrome is a chronic autoimmune disease characterised by reduced lacrimal and salivary gland function. Sjögren’s syndrome (SS) is characterised by dry eyes and dry mouth due to reduced lacrimal and salivary gland function, respectively. It is a systemic condition associated with extraglandular clinical features and can affect almost any organ. Terminology A number of terms are used in SS. Sicca syndrome: old term that is synonymous with SS. Keratoconjunctivitis sicca: refers to the dry eye symptoms experienced in SS Xerostomia: refers to dry mouth Primary vs. secondary SS may be classified as primary or secondary: Primary: Sjögren’s syndrome in

Overview Rheumatoid arthritis is a chronic, systemic inflammatory disorder characterised by inflammatory polyarthritis. Rheumatoid arthritis (RA) is classified as an inflammatory arthropathy because it characteristically affects multiple joints leading to chronic joint pain, swelling and stiffness. However, RA can be a multi-system disorder associated with extra-articular manifestations and systemic features including myalgia, fatigue, low-grade fever, weight loss, and depression. Patients with RA are often described as seropositive or seronegative depending on the presence or absence antibodies (e.g. Anti-CCP, Rheumatoid factor – discussed below). Epidemiology RA is estimated to affect around 1% of the UK population. The annual incidence of RA is estimated at

Overview Reactive arthritis is one of the spondyloarthropathies that is defined as arthritis occurring after an infection. Reactive arthritis (ReA) is one of the spondyloarthropathies that can cause peripheral arthritis (i.e. joint inflammation) or spondylitis (i.e. spinal inflammation) following an infection. It causes ’sterile’ inflammation because there is no actual infection in the joint. ReA commonly occurs several weeks following infection by a variety of organisms that usually infect the urogenital or gastrointestinal tract. ReA was historically referred to as ‘Reiter’s syndrome’, which describes a clinical triad of arthritis, urethritis, and conjunctivitis. However, only a small proportion of patients present with

Overview Raynaud phenomenon refers to skin colour changes that occur in the fingers and toes from vasospasm. Raynaud phenomenon is an exaggerated response to cold temperatures or emotional stress. It is due to abnormal vasoconstriction of digital and cutaneous arterioles often referred to as ‘vasospasm’. Vasospasm refers to the sudden constriction of blood vessels. Raynaud phenomenon presents with classic skin changes that occur suddenly. These may be divided into three stages: White: development of white fingers with sharp demarcation of colour change due to vasoconstriction. Blue: vasoconstriction leads to tissue hypoxia and development of cyanosis. Red: as vasoconstriction improves, there is an increase

Overview Pseudogout is a crystal arthropathy, which may cause an acute inflammatory arthritis from deposition of calcium pyrophosphate. The principle mechanism underlying pseudogout is deposition of calcium pyrophosphate dihyrate (CPP). In fact, pseudogout is an old term that refers to one of the clinical syndromes within a spectrum of conditions associated with CPP deposition (CPPD) in connective tissue. The term pseudogout is still used commonly in clinical practice. This is because of the close resemblance to gout in both pathophysiology (crystal arthropathy) and clinical features (acute inflammatory arthropathy). CPPD disease CPPD is an umbrella term that covers all clinical conditions linked to the

Overview Polymyalgia rheumatica is a common rheumatological disorder, which is characterised by shoulder and hip girdle pain. Polymyalgia rheumatica (PMR) is a common systemic inflammatory disease that is one of the most common indications for long-term steroids. It is characterised by myalgia and muscles stiffness with preponderance to the neck, shoulder and pelvic girdle. Similar to giant cell arteritis (GCA), PMR is predominantly a disease of older adults and rarely presents before 50 years old. The peak prevalence is estimated between 70-80 years. Women are 2-3 times more likely to be affected than men. Aetiology The exact cause of PMR is currently

Overview Osteoporosis is characterised by low bone mass and micro-architectural deterioration of bone with resulting fragility and fracture risk. Osteoporosis can be defined as a bone mineral density (BMD) of 2.5 standard deviations below the mean peak mass (for an average young healthy adult). With the exception of fracture, osteoporosis is an asymptomatic condition. The weaker bone predisposes patients to what are termed ‘fragility fractures’. This refers to those that result from ‘low-energy’ trauma that would not normally result in fracture. Common fragility fractures include vertebral crush fractures and those of the distal wrist and proximal femur. A number of therapeutic options

Overview Osteoarthritis is characterised by progressive synovial joint damage resulting in structural changes, pain and reduced function. It is the most common form of arthritis. Individuals are affected differently, but pain and functional limitation can significantly affect quality of life. The hands, knees and hips are commonly affected by this condition that leads to cartilage loss and subsequent remodelling of bone. Management includes addressing modifiable risk factors, analgesia and joint replacement surgery. Epidemiology  It is estimated that 8.75 million people aged 45 or older in the UK have sought treatment for osteoarthritis.  In England, 4.11 million aged 45 or older suffer with

Overview Gout is a crystal arthropathy resulting from excess levels of uric acid leading to precipitation in joints and other tissue. Gout is the most common inflammatory arthritis across the world. The overall prevalence of gout is increasing, estimated at 2.49% in the UK. It is more common in the elderly and has a male predominance with a male to female ration of 4.3:1. A caricature by James Gillray, an 18th century artist Risk factors High uric acid levels, or hyperuricaemia, is the single most important risk factor for the development of gout. Hyperuricaemia Alcohol Obesity Male gender Age Renal disease  Dyslipidaemia Chemotherapy Diabetes mellitus People

Overview Giant cell arteritis is a sight-threatening vasculitis characterised by inflammation of medium and large sized arteries. Giant cell arteritis (GCA), otherwise known as temporal arteritis, is a type of vasculitis. Vasculitis refers to inflammation of blood vessels. It is considered a medical emergency because without prompt recognition and treatment it can lead to visual loss. In the UK, the annual incidence is estimated at 20 per 100,000 people. The peak onset occurs in patients aged 70-79 and the condition is rarely seen before the age of 50. The condition is more prevalent in white Northern European patients and is 2-3

Overview Eosinophilic granulomatosis with polyangiitis is a small to medium vessel vasculitis. Eosinophilic granulomatosis with polyangiitis (EGPA) is one of the anti-neutrophil cytoplasmic antibody (ANCA) associated vasculitides (AAV) that is characterised by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. Among the three AAVs (see below), EGPA is the least common with a prevalence in Europe between 10.7-14.1 cases per million population. The mean age of diagnosis is around 40 years old and there is no gender predominance. ANCA associated vasculitis AAV is an umbrella term for three conditions: Microscopic polyangiitis (MPA) Granulomatosis with polyangiitis (GPA): previously known as Wegener’s granulomatosis Eosinophilic

Overview Ankylosing spondylitis is a chronic, multi-system inflammatory disorder characterised inflammation of the sacroiliac joints and axial skeleton. Ankylosing spondylitis (AS) is considered a chronic, multi-system inflammatory disorder that is characterised by chronic lower back pain. AS is one of the spondyloarthropathies (SpA) that refers to a diverse group of conditions associated with the HLA-B27 gene. The condition causes inflammation of the sacroiliac joints and axial skeleton that presents as chronic back pain, morning stiffness, and eventually spinal deformity in long-standing cases. Spondyloarthropathies AS is one of the SpAs that are a diverse group of conditions associated with the HLA-B27 gene. AS

Overview Amyloidosis refers to the extracellular deposition of fibrils that contain a variety of proteins. An amyloid fibril is simply the assembly of insoluble protein fibres that are composed in a way that is resistant to degradation. This composition is known as a beta-pleated sheet. These deposits of amyloid fibrils are extracellular (i.e. occurring outside of cells) and may be seen in different tissues and organs. Hepatic amyloid. Seen as amorphous, acellular pink material on H&E stain Image courtesy of Nephron. Wikimedia commons The problem with amyloid is that deposition in tissue can lead to organ dysfunction. When organ dysfunction is caused by