Rheumatology Flashcards

1
Q

What is osteoarthritits?
What joints are commonly affected?
What x-ray changes would you see?

A

Osteoarthritis is often described as “wear and tear” in the joints. It occurs in the synovial joints and results from genetic factors, overuse and injury. Osteoarthritis is thought to result from an imbalance between cartilage damage and the chondrocyte response, leading to structural issues in the joint. Risk factors include obesity, age, occupation, trauma, being female and family history.

Commonly Affected Joints
* Hips
* Knees
* Distal interphalangeal (DIP) joints in the hands
* Carpometacarpal (CMC) joint at the base of the thumb
* Lumbar spine
* Cervical spine (cervical spondylosis)

X-ray Changes
The four key x-ray changes in osteoarthritis can be remembered with the “LOSS” mnemonic:

L – Loss of joint space
O – Osteophytes (bone spurs)
S – Subarticular sclerosis (increased density of the bone along the joint line)
S – Subchondral cysts (fluid-filled holes in the bone)

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2
Q

How does osteoarthritis present?
When can a diagnosis be made?

A

Presentation
Osteoarthritis presents with joint pain and stiffness. The pain and stiffness tend to worsen with activity and at the end of the day. This is the reverse of the pattern in inflammatory arthritis, where symptoms are worse in the morning and improve with activity. Osteoarthritis leads to deformity, instability and reduced function of the joint.

General signs of osteoarthritis are:

  • Bulky, bony enlargement of the joint
  • Restricted range of motion
  • Crepitus on movement
  • Effusions (fluid) around the joint

Signs in the Hands:
* Heberden’s nodes (in the DIP joints)
* Bouchard’s nodes (in the PIP joints)
* Squaring at the base of the thumb (CMC joint)
* Weak grip
* Reduced range of motion

Diagnosis
The NICE guidelines (2022) suggest that a diagnosis can be made without any investigations if the patient is over 45, has typical pain associated with activity and has no morning stiffness (or stiffness lasting under 30 minutes).

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3
Q

How do you manage osteoartritis?

A

Management
Non-pharmacological management involves patient education and lifestyle changes, such as:

Therapeutic exercise to improve strength and function and reduce pain
Weight loss if overweight, to reduce the load on the joint
Occupational therapy to support activities and function (e.g., walking aids and adaptations to the home)

Pharmacological management recommended by the NICE guidelines (2022) are:

Topical NSAIDs first-line for knee osteoarthritis
Oral NSAIDs where required and suitable (co-prescribed with a proton pump inhibitor for gastroprotection)

Weak opiates and paracetamol are only recommended for short-term, infrequent use. NICE (2022) recommend against using any strong opiates for osteoarthritis.

Intra-articular steroid injections may temporarily improve symptoms (NICE say up to 10 weeks).

Joint replacement may be used in severe cases. The hips and knees are the most commonly replaced joints.

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4
Q

How does rheumatoid arthritis present?

A

Inflammatory arthritis symptoms are worse with rest and improve with activity. They are worst in the morning. If stiffening is present it lasts >30mins.

The speed of onset can vary from rapid (e.g., overnight) to gradual (e.g., over months). The three joint symptoms are:

Pain
Stiffness
Swelling

Rheumatoid arthritis typically causes symmetrical distal polyarthritis affecting the small joints of the hands and feet. The most commonly affected joints are:

Metacarpophalangeal (MCP) joints
Proximal interphalangeal (PIP) joints
Wrist
Metatarsophalangeal (MTP) joints (in the foot)

On palpation of the joints, there will be tenderness and synovial thickening, giving them a “boggy” feeling.

TOM TIP: Rheumatoid arthritis very rarely affects the distal interphalangeal joints. Enlarged and painful distal interphalangeal joints are more likely to represent Heberden’s nodes due to osteoarthritis.

Large joints such as the ankle, knee, hips, and shoulders can also be affected. It can affect the cervical spine (but not the lumbar spine).

Associated systemic symptoms include:

Fatigue
Weight loss
Flu-like illness
Muscles aches and weakness

In patients with advanced disease, the hand signs include:

Z-shaped deformity to the thumb
Swan neck deformity (hyperextended PIP and flexed DIP)
Boutonniere deformity (hyperextended DIP and flexed PIP)
Ulnar deviation of the fingers at the MCP joints

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5
Q

What investigations would you do for rheumatoid arthritis?
What are some extra-articular manifestations?
What is the managament?

A

The investigations that help in the initial assessment are:

  • Rheumatoid factor
  • Anti-CCP antibodies
  • Inflammatory markers, such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR)
  • X-rays of the hands and feet for bone changes
  • Ultrasound or MRI can be used to detect synovitis (useful when clinical findings are unclear)

Extra-articular manifestations:
* rheumatoid nodules
* anemia of chronic disease
* increased risk of cardiovascular issues
* Skin rashes
* dry eyes

Management
For acute flares, steroids can be used
Symptomatic management with NSAIDs with PPI for gastric protection
Medical management involves disease modifying anti-rheumatic drugs (cDMARD) e.g., methotrexate, leflunomide, or sulfasalazine. Hydroxychloroquine can be used
If persistent, biological therapy can be considered e.g., infliximab
If significant joint deformity or nerve compression, surgery can be considered

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6
Q

What is Ankylosing spondylitis and how does it present?

A

Ankylosing spondylitis (AS) is an inflammatory condition affecting the axial skeleton (mainly the spine and sacroiliac joints), causing progressive stiffness and pain. It is also known as axial spondyloarthritis. It is part of the seronegative spondyloarthropathy group of conditions, also including psoriatic arthritis and reactive arthritis.

The main affected joints are the sacroiliac joints and the vertebral column joints. Inflammation causes pain and stiffness in these joints. It can progress to spine and sacroiliac joint fusion.

Presentation
The typical presentation is a young adult male in their 20s. Symptoms develop gradually over at least three months.

The main presenting features are

Pain and stiffness in the lower back
Sacroiliac pain (in the buttock region)

The pain and stiffness is worse with rest and improves with movement. The pain worsens at night and in the morning and may wake them. The stiffness takes at least 30 minutes to improve in the morning. Symptoms improve with activity and worsen with rest.

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7
Q

What investigations would you do if suspecting Ankylosing spondylitis?
Whats the management

A

Schober’s Test
Schober’s test assesses spinal mobility. With the patient standing straight, the L5 vertebra is located, and a point is marked 10cm above and 5cm below this level (15cm apart). Then the patient bends forward as far as possible, and the distance between the points is measured. A length of less than 20cm indicates a restriction in lumbar movement and helps support a diagnosis of ankylosing spondylitis.

Investigations
Key investigations include:

  • Inflammatory markers (e.g., CRP and ESR) may rise with disease activity
  • HLA B27 genetic testing
  • X-ray of the spine and sacrum
  • MRI of the spine can show bone marrow oedema early in the disease before there are any xray changes

Management
The rheumatology multidisciplinary team will manage patients. Treatment aims to control symptoms and preserve function.

Medical management may involve:

  • Non-steroidal anti-inflammatory drugs (NSAIDs) are first-line
  • Anti-TNF medications are second-line (e.g., adalimumab, etanercept or infliximab)
  • Secukinumab or ixekizumab are third-line (monoclonal antibodies against interleukin-17)
  • Upadacitinib is another third-line option (JAK inhibitor)

Intra-articular steroid injections may be considered for specific joints.

Additional management:

  • Physiotherapy
  • Exercise and mobilisation
  • Avoiding smoking
  • Bisphosphonates for osteoporosis
  • Surgery is occasionally required for severe joint deformity
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8
Q

What is systemic lupus erythematous (SLE)?
How does it present?

A

Systemic lupus erythematosus (SLE) is an inflammatory autoimmune connective tissue disorder. It is “systemic” because it affects multiple organs and systems. “Erythematosus” refers to the typical red malar rash across the face.

SLE is characterised by anti-nuclear antibodies (ANA). These are autoantibodies against proteins within the cell nucleus. These antibodies generate a chronic inflammatory response, leading to the condition’s features.

SLE presents with many non-specific symptoms:

  • Fatigue
  • Weight loss
  • Arthralgia (joint pain)
  • Non-erosive arthritis
  • Myalgia (muscle pain)
  • Fever
  • Photosensitive malar rash
  • Lymphadenopathy
  • Splenomegaly
  • Shortness of breath
  • Pleuritic chest pain
  • Mouth ulcers
  • Hair loss
  • Raynaud’s phenomenon
  • Oedema (due to nephritis)
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9
Q

What invesdtigations would you do for SLE?
what is the management?

A

Abnormal investigation findings in SLE include:

Autoantibodies (anti-nuclear antibodies ANA)
Full blood count may show anaemia of chronic disease, low white cell count and low platelets
CRP and ESR may be raised with active inflammation
C3 and C4 levels may be decreased in active disease
Urinalysis and urine protein:creatinine ratio shows proteinuria in lupus nephritis
Renal biopsy may be used to investigate for lupus nephritis

Management
Treatment aims to control symptoms and reduce complications with the least medications and side effects. Suncream and sun avoidance are essential measures in managing the photosensitive malar rash.

First-line options include:

Hydroxychloroquine
NSAIDs
Steroids (e.g., prednisolone)

Treatment options for resistant or more severe SLE include:

DMARDs (e.g., methotrexate, mycophenolate mofetil or cyclophosphamide)
Biologic therapies

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10
Q

What is Polymyalgia Rheumatica?
How does it present?
What is the treatment?

A

Polymyalgia rheumatica (PMR) is an inflammatory condition that causes pain and stiffness in the shoulders, pelvic girdle and neck. There is a strong association with giant cell arteritis, and the two conditions often occur together.

The cause is not fully understood. There are no relevant antibodies. It is more common in older white patients.

Presentation
Patients may have a relatively rapid onset of symptoms over days to weeks. Symptoms should be present for two weeks before a diagnosis is considered. The core symptoms are pain and stiffness of the:

Shoulders, potentially radiating to the upper arm and elbow
Pelvic girdle (around the hips), potentially radiating to the thighs
Neck

The characteristic features of the pain and stiffness are:

Worse in the morning
Worse after rest or inactivity
Interfere with sleep
Take at least 45 minutes to ease in the morning
Somewhat improve with activity

Treatment
Treatment of PMR is with steroids. The NICE clinical knowledge summaries (updated January 2023) recommend:

15mg prednisolone daily initially
Follow up after 1 week

Patients with PMR have a dramatic improvement in symptoms (at least 70%) within one week. Inflammatory markers return to normal within one month. A poor response to steroids suggests an alternative diagnosis.

Treatment with steroids typically lasts 1-2 years. NICE suggest the following reducing regime of prednisolone:

15mg until the symptoms are fully controlled, then
12.5mg for 3 weeks, then
10mg for 4-6 weeks, then
Reducing by 1mg every 4-8 weeks

The reducing regime can go faster or slower depending on the individual and their symptom control.

Additional management for patients on long-term steroids can be remembered with the “Don’t STOP” mnemonic:

Don’t – steroid dependence occurs after 3 weeks of treatment, and abruptly stopping risks adrenal crisis
S – Sick day rules (steroid doses may need to be increased if the patient becomes unwell)
T – Treatment card – patients should carry a steroid treatment card to alert others that they are steroid-dependent
O – Osteoporosis prevention may be required (e.g., bisphosphonates and calcium and vitamin D)
P – Proton pump inhibitors are considered for gastro-protection (e.g., omeprazole)

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11
Q

What is gout?
What are the risk factors?
which joints does it affect?

A

Gout is a type of crystal arthropathy associated with chronically high blood uric acid levels. Urate crystals are deposited in the joint, causing it to become inflamed. Gout typically presents with a single acute hot, swollen and painful joint. The critical differential diagnosis for this presentation is septic arthritis.

Gouty tophi are subcutaneous uric acid deposits typically seen on the hands, elbows and ears.

Risk Factors
Male
Family history
Obesity
High purine diet (e.g., meat and seafood)
Alcohol
Diuretics
Cardiovascular disease
Kidney disease

Typical Joints
The most commonly affected joints are:

The base of the big toe – the metatarsophalangeal joint (MTP joint)
The base of the thumb – the carpometacarpal joint (CMC joint)
Wrist

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12
Q

How is gout diagnosed?
What is the management?

A

Diagnosis is usually made clinically, supported by a raised serum urate level on a blood test.

It is essential to exclude septic arthritis, a potentially life-threatening differential diagnosis. Any suspicion of septic arthritis requires emergency management with joint aspiration and antibiotics. Aspirated joint fluid shows monosodium urate crystals. These are needle-shaped and negatively birefringent of polarised light. There should be no bacterial growth.

X-ray of a joint affected by gout shows:

Maintained joint space (no loss of joint space)
Lytic lesions in the bone
Punched out erosions
Erosions can have sclerotic borders with overhanding edges

Management
Acute flares are treated with:

NSAIDs (e.g., naproxen) first-line (co-prescribed with a proton pump inhibitor for gastroprotection)
Colchicine second-line
Oral steroids (e.g., prednisolone) third-line

Colchicine is used in patients who are inappropriate for NSAIDs, such as those with renal impairment or significant heart disease. Abdominal symptoms and diarrhoea are common side effects. These may be mild and resolve with a reduced dose. However, more severe symptoms may indicate toxicity. Colchicine is very dangerous in overdose and can cause multiple organ failure. It is only prescribed for a short course (up to 6mg per course).

Prophylaxis is with xanthine oxidase inhibitors, which lower the uric acid level. The options are:

Allopurinol
Febuxostat

Lifestyle changes can reduce the risk of gout. This involves losing weight, staying hydrated and minimising the consumption of alcohol and purine-based food (e.g., meat and seafood).

TOM TIP: Prophylaxis is not started until weeks after the acute attack has resolved. NSAIDs or colchicine may be given to prevent a gout attack during the initial period. Once allopurinol or febuxostat is initiated, it is continued during an acute attack. These facts are commonly tested in exams.

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13
Q

What is pseudogout?
How is it diagnosed?

A

Pseudogout is a crystal arthropathy caused by calcium pyrophosphate crystals collecting in the joints. It is formally known as calcium pyrophosphate deposition disease (CPPD). It may also be called chondrocalcinosis.

n any patient presenting with a hot, painful and swollen joint, septic arthritis must be excluded as it is a medical emergency. Symptoms of pseudogout tend to be milder than gout or septic arthritis.

Joint aspiration is used to confirm the diagnosis. Aspirated joint fluid shows calcium pyrophosphate crystals. These are rhomboid-shaped and positively birefringent of polarised light. There should be no bacterial growth.

Chondrocalcinosis is the classic x-ray change in pseudogout. The calcium deposits in the joint cartilage show up in a thin white line in the middle of the joint space.

Management
Treatment of pseudogout is targeted at symptoms. There are no proven disease-modifying drugs, prophylactic treatments or dietary modifications. Asymptomatic changes on an x-ray do not require any treatment.

Symptoms usually resolve spontaneously over several weeks. Symptomatic management options include:

NSAIDs (e.g., naproxen) first-line (co-prescribed with a proton pump inhibitor for gastroprotection)
Colchicine
Intra-articular steroid injections (septic arthritis must be excluded first)
Oral steroids

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14
Q

What is osteoporosis?
How is bone mineral density measured?

A

Osteoporosis involves a significant reduction in bone density. Osteopenia refers to a less severe decrease in bone density. Reduced bone density makes the bones weaker and prone to fractures.

The World Health Organization (WHO) provide definitions based on the T-score of the femoral neck, measured on a DEXA scan. The T-score is the number of standard deviations the patient is from an average healthy young adult. A T-score of -1 means the bone mineral density is 1 standard deviation below the average for healthy young adults.

Bone mineral density (BMD) is measured using a DEXA scan (dual-energy x-ray absorptiometry). DEXA scans are a type of x-ray that measures how much radiation is absorbed by the bones, indicating how dense the bone is. The bone mineral density can be measured anywhere on the skeleton, but the femoral neck reading is most important.

Bone density can be represented as a Z-score or T-score. The Z-score is the number of standard deviations the patient is from the average for their age, sex and ethnicity. The T-score is the number of standard deviations the patient is from an average healthy young adult. The T-score is used to make the diagnosis.

Diagnosis

T Score at the Hip

Normal

More than -1

Osteopenia

-1 to -2.5

Osteoporosis

Less than -2.5

Severe Osteoporosis

Less than -2.5 plus a fracture

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15
Q

What are the risk factors of osteoporosis?
What kind of people are assessed for osteoporosis?

A

Risk Factors
* Older age
* Post-menopausal women
* Reduced mobility and activity
* Low BMI (under 19 kg/m2)
* Low calcium or vitamin D intake
* Alcohol and smoking
* Personal or family history of fractures
* Chronic diseases (e.g., chronic kidney disease, hyperthyroidism and rheumatoid arthritis)
* Long-term corticosteroids (e.g., 7.5mg or more of prednisolone daily for longer than 3 months)
* Certain medications (e.g., SSRIs, PPIs, anti-epileptics and anti-oestrogens)

The NICE clinical knowledge summaries (April 2023) recommend assessing:

  • Anyone on long-term oral corticosteroids or with a previous fragility fracture
  • Anyone 50 and over with risk factors
  • All women 65 and over
  • All men 75 and over
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16
Q

How is the 10 year risk of a major osteoporotic fracture and a hip fracture calculated?

A

QFracture tool (preferred by NICE)
FRAX tool (NICE say this may underestimate the risk in some patients)

Patients are categorised as low, intermediate or high risk based on the risk calculator. For QFracture, this is based on the percentage, and patients above 10% are considered for a DEXA scan. For FRAX, this is based on the NOGG guideline chart (linked to on the online FRAX tool), which advises whether to arrange a DEXA scan or start treatment.

These suggestions do not apply to specific groups. For example, NICE CKS (April 2023) suggest:

A DEXA may be arranged without calculating the risk in patients over 50 with a fragility fracture
Treatment may be started without a DEXA in patients with a vertebral fracture

Management
The first step is to address reversible risk factors. For example, increase physical activity, maintain a healthy weight, stop smoking and reduce alcohol consumption.

The second step is to address insufficient intake of calcium (less than 700mg per day) and inadequate vitamin D (e.g., limited sun exposure) with additional:

Calcium (at least 1000mg)
Vitamin D (400-800 IU)

Bisphosphonates are the first-line treatment for osteoporosis. They are recommended for patients with osteoporosis based on a DEXA scan. They are considered in patients on long-term steroids. They work by interfering with the way osteoclasts attach to bone, reducing their activity and the reabsorption of bone.

Bisphosphonates have some important side effects:

Reflux and oesophageal erosions
Atypical fractures (e.g., atypical femoral fractures)
Osteonecrosis of the jaw (regular dental checkups are recommended before and during treatment)
Osteonecrosis of the external auditory canal

Oral bisphosphonates are taken on an empty stomach with a full glass of water. Afterwards, the patient should sit upright for 30 minutes before moving or eating to reduce the risk of reflux and oesophageal erosions.

Examples of bisphosphonates are:

Alendronate 70 mg once weekly (oral)
Risedronate 35 mg once weekly (oral)
Zoledronic acid 5 mg once yearly (intravenous)

17
Q

What is osteomalcia and what is the pathophysiology?

A

Osteomalacia is a condition where defective bone mineralisation causes “soft” bones. Osteo– means bone, and –malacia means soft. It results from insufficient vitamin D. The same process in children causes rickets.

Vitamin D is a hormone the skin creates in response to sunlight. It is also obtained in limited amounts from food. It is vital in regulating bone mineralisation, hormone secretion and immune function. Low vitamin D is very common.

Vitamin D is created from cholesterol by the skin in response to UV radiation. Patients with darker skin require more prolonged sun exposure to generate the same vitamin D. It is also obtained from food as a fat-soluble vitamin. A regular diet does not contain enough vitamin D to compensate for reduced sun exposure.

Patients with malabsorption disorders (e.g., inflammatory bowel disease) are at higher risk of vitamin D deficiency. Patients with chronic kidney disease are also at higher risk of vitamin D deficiency as the kidneys help convert vitamin D into its active form.

Vitamin D is essential in calcium and phosphate absorption in the intestines and reabsorption in the kidneys. It is also responsible for regulating bone turnover and promoting bone reabsorption to increase the serum calcium level.

Inadequate vitamin D leads to low serum calcium and phosphate. Since calcium and phosphate are required for the construction of bone, low levels result in defective bone mineralisation and osteomalacia.

Low calcium leads to increased parathyroid hormone (PTH) secretion by the parathyroid glands (secondary hyperparathyroidism). Increased parathyroid hormone promotes calcium reabsorption from the bones, further impairing bone mineralisation.

Treatment
Treatment is with colecalciferol (vitamin D₃). There are various loading regimes (e.g., for patients with symptoms) suggested by the NICE clinical knowledge summaries (2022), for example:

50,000 IU once weekly for 6 weeks
4000 IU daily for 10 weeks

A maintenance dose of 800-2000 IU per day is continued following the loading regime (or as the initial treatment in patients that do not require rapid treatment.

NICE CKS (2022) recommend checking the serum calcium within a month of the loading regime. It may be:

Low in calcium deficiency
High in primary hyperparathyroidism (previously masked by the vitamin D deficiency)
High in other conditions that cause hypercalcaemia, such as cancer, sarcoidosis or tuberculosis

18
Q

What is pagets disease?
What investigation finidngs would you see?
What is the management?

A

Paget’s disease of bone involves excessive bone turnover (reabsorption and formation) due to increased osteoclast and osteoblast activity. The excessive turnover is not coordinated, leading to patchy areas of high density (sclerosis) and low density (lysis). The result is enlarged and misshapen bones, structural problems and an increased risk of pathological fractures. It particularly affects the axial skeleton (the bones of the head and spine).

The cause is unknown. It typically affects older adults.

Iinvestigations
X-ray findings include:

  • Bone enlargement and deformity
  • Osteoporosis circumscripta (well-defined osteolytic lesions that appear less dense compared with normal bone)
  • Cotton wool appearance of the skull (poorly defined patchy areas of increased and decreased density)
  • V-shaped osteolytic defects in the long bones

Blood tests include:

  • Raised alkaline phosphatase
  • Normal calcium
  • Normal phosphate

Management
Bisphosphonates are the main treatment. They are generally very effective. They interfere with osteoclast activity and restore normal bone metabolism. They improve symptoms and prevent further abnormal bone changes.

Other measures include:

Calcitonin is a treatment option where bisphosphonates are unsuitable
Analgesia (e.g., NSAIDs) for bone pain
Calcium and vitamin D supplementation, if necessary
Surgery is rarely required to treat fractures, severe deformities and arthritis

Monitoring involves checking the serum alkaline phosphatase (ALP) and reviewing symptoms. Effective treatment should normalise the ALP and eliminate symptoms.

19
Q

What is the difference bewteen osteoporosis and osteomalacia?

A

Osteoporosis: Loss of bone density, leading to fragile bones.
Osteomalacia: Lack of bone mineralization, causing soft bones.
Both conditions can increase the risk of fractures but are treated differently: osteoporosis focuses on increasing bone density, while osteomalacia is treated by addressing the vitamin D or mineral deficiencies.