Rheumatology Revision 3

Question 1

Describe the typical presentation of dermatomyositis

Also what is the difference in presentation between polymyositis vs dermatomyositis?

Answer 1

Skin features
* photosensitive
* macular rash over back and shoulder
* heliotrope rash in the periorbital region
* Gottron’s papules - roughened red papules over extensor surfaces of fingers
* ‘mechanic’s hands’: extremely dry and scaly hands with linear ‘cracks’ on the palmar and lateral aspects of the fingers
* nail fold capillary dilatation

Other features:
- Proximal muscle weakness - difficulty standing off chairs
- Myalgia
- Raynaud’s
- ILD

NB: polymyositis doesnt present with skin features

Question 2

Describe the investigations used for dermatomyositis [4]
Which antibody is most associated with polymyositis? [1]

Answer 2

• the majority of patients (around 80%) are ANA positive
• Elevated CK
• Skin and muscle bx can confirm dx
• EMG - to distinguish from neuropathy
• TOMTIP - anti-Jo1 antibodies are associated with polymyositis

Question 3

Mx for dermatomyositis? [1]

Answer 3

1st line: Prednisolone

Question 4

Which specific lung pathologies are caused by dermatomyositis / polymyositis? [2]

Answer 4

fibrosing alveolitis or organising pneumonia

Question 5

Behcets is associated with which gene? [1]

Answer 5

There is a link with the HLA B51 gene.

Question 6

Describe a typical patient suffering from Behcets. [1]

Describe the possible presentation of Behcets [+]

Answer 6

A typical presentation of Behcet’s syndrome might involve a patient in their twenties or thirties presenting with recurrent oral and genital ulcers, accompanied by uveitis

Oral & genital ulceration
- typically painful, round or oval, with a yellow-grey pseudomembrane surrounded by a red halo.

Uveitis
- can lead to blindness

Skin lesions

VTE/arterial thrombosis

GI symptoms:
- abdominal pain, diarrhoea or gastrointestinal bleeding

CNS:
- aseptic meningitis and cerebral venous sinus thrombosis

Question 7

Describe what is meant by the pathergy test

Answer 7

The pathergy test:
- involves using a sterile needle to make multiple pricks on the forearm.
- The area is reviewed 24-48 hours later to look for erythema (redness) and induration (thickening), indicating non-specific skin hypersensitivity.
- A positive result can indicate Behçet’s disease, Sweet’s syndrome or pyoderma gangrenosum.

PassMed:
- +ve result: puncture site following needle prick becomes inflamed with small pustule forming)

Question 8

Describe the treatment of Behcets

Answer 8

Topical treatments:
* For oral and genital ulcers, topical corticosteroids are frequently employed.
* Topical anaesthetics may also be used for pain relief.

Corticosteroids:
* Systemic corticosteroids are administered in cases with severe manifestations such as ocular disease or vascular involvement.
* Prednisolone is often the first-line treatment.

Disease-modifying anti-rheumatic drugs (DMARDs):
- Methotrexate, azathioprine, and cyclosporine can be used as steroid-sparing agents or in patients unresponsive to corticosteroids.

Biologic therapy:
- Anti-TNF agents like infliximab and adalimumab have shown efficacy in refractory cases or those with major organ involvement. Interferon-alpha may be considered for refractory uveitis.

Cytotoxic agents:
- Cyclophosphamide may be employed for severe vasculitis or neurological involvement.

Question 9

Describe what is meant by Neuro-Behcet’s syndrome (a nervous system complication of Behcets) [2]

Answer 9

Meningoencephalitis symptoms such as headache, fever, stiff neck and neurological deficits.
It may also present with parenchymal lesions or cerebral venous sinus thrombosis.

Question 10

Answer 10

anterior uveitis

Question 11

Answer 11

Multiple painful genital ulcers, not sexually active

Question 12

Answer 12

thrombophlebitis and deep vein thrombosis

Question 13

Define Ehler-Danlos syndrome [1]

Answer 13

Ehler-Danlos syndrome is an autosomal dominant connective tissue disorder that mostly affects type III collagen.

This results in the tissue being more elastic than normal leading to joint hypermobility and increased elasticity of the skin.

Question 14

Describe the different types of Ehlers-Danlos syndromes [4]

Answer 14

Hypermobile Ehlers-Danlos syndrome
- is the most common and least severe type of Ehlers-Danlos syndrome (although it still causes significant disability and psychosocial issues).
- The key features are joint hypermobility and soft and stretchy skin.
- A single gene for hypermobile EDS has not been identified. It appears to be inherited in an autosomal dominant pattern.

Classical Ehlers-Danlos syndrome
- features remarkably stretchy skin that feels smooth and velvety.
- There is severe joint hypermobility, joint pain and abnormal wound healing.
- Lumps often develop over pressure points, such as the elbows. Patients are prone to hernias, prolapses, mitral regurgitation and aortic root dilatation. Inheritance is autosomal dominant.

Vascular Ehlers-Danlos syndrome
- is the most severe and dangerous form of EDS, where the blood vessels are particularly fragile and prone to rupture.
- Patients have characteristic thin, translucent skin. Other features include gastrointestinal perforation and spontaneous pneumothorax.
- Patients are monitored for vascular abnormalities and told to seek urgent medical attention for sudden unexplained pain or bleeding. Inheritance is autosomal dominant.

Kyphoscoliotic Ehlers-Danlos syndrome
- is characterised initially by poor muscle tone (hypotonia) as a neonate and infant, followed by kyphoscoliosis as they grow.
- There is significant joint hypermobility. Joint dislocation is common.
- Inheritance is autosomal recessive.

Question 15

TOM TIP: It is worth being familiar with relatively common hypermobile Ehlers-Danlos syndrome and remembering some key features of the other types to spot them in your exams.

Which features are typical for classic EDS? [2]

Which features are typical for vascular EDS? [1]

Answer 15

Classical EDS:
- Extremely stretchy skin
- Severe joint hypermobilitiy

Vascular EDS:
- Thin translucent skin
- Blood vessel rupture

Question 16

Hypermobile Ehlers-Danlos syndrome is associated with which pathology? [1]
Describe the symptoms [3]

Answer 16

Postural orthostatic tachycardia syndrome (POTS)
- Significant tachycardia occurs on sitting or standing, and symptoms include presyncope (lightheadedness), syncope (loss of consciousness), headaches, disorientation, nausea and tremor.

Question 17

TOM TIP: It is worth learning and remembering to use the [] score to assess patients for hypermobility.

Answer 17

TOM TIP: It is worth learning and remembering to use the Beighton score to assess patients for hypermobility.

Question 18

LcSSc is defined by which features? [5]

Answer 18

C– Calcinosis
R – Raynaud’s phenomenon
E – oEsophageal dysmotility
S – Sclerodactyly
T – Telangiectasia

Question 19

DcSSc has which clinical features?

Answer 19

Includes CREST AND:

Skin:
- Thickening, tightening (Sclerodactyly), and hardening (scleroderma) of the skin, which typically starts in the fingers and progresses proximally
- Calcinosis.

Raynaud’s phenomenon:
- Vasospasm-induced color changes (pallor, cyanosis, and erythema) in the fingers and toes in response to cold or stress.

Gastrointestinal involvement:
- Dysphagia, gastroesophageal reflux, and motility disorders affecting the esophagus, stomach, and intestines.

Pulmonary involvement:
- Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are common complications, which can cause shortness of breath, cough, and chest pain.

Renal involvement:
- Scleroderma renal crisis, characterized by rapidly progressive renal failure and malignant hypertension, is a life-threatening complication of SSc.

Musculoskeletal involvement:
- Joint pain, stiffness, and contractures due to fibrosis of the joint capsules and tendons.

Question 20

Describe the colour changes in Raynaud’s [3]

Answer 20

Raynaud’s phenomenon is where the fingertips change colour in response to even mildly cold triggers (e.g., opening the fridge). It is caused by vasoconstriction of the vessels supplying the fingers. The typical pattern is:

First white, due to vasoconstriction
Then blue, due to cyanosis
Then red, due to reperfusion and hyperaemia

Question 21

Describe what is meant by nailfold capillaroscopy [2]

How do you use this investigation to assess SS? [1]

Answer 21

Nailfold capillaroscopy
- is a technique to magnify and examine the peripheral capillaries where the skin meets the base of the fingernail (the nail fold).
- Abnormal capillaries, avascular areas and micro-haemorrhages suggest systemic sclerosis
- Patients with Raynaud’s disease (without systemic sclerosis) have normal nailfold capillaries.

Question 22

Which antibodies are associated with SS? [3]

Answer 22

Serology:
* Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis. They are non-specific.
* anti-scl-70 antibodies associated with diffuse cutaneous systemic sclerosis
* anti-centromere antibodies associated with limited cutaneous systemic sclerosis

Question 23

Describe the management of SSc

Answer 23

Treatment focuses on symptom management

Vasodilator therapy - especially for Raynaud’s
- Nifedipine
- phosphodiesterase-5 inhibitors
- prostacyclin analogues

Pulmonary HTN:
- Sildenafil
- bosentan (endothelin receptor antagonists)

Digital Ulcers:
- Intravenous iloprost
- bosentan

Gastrointestinal management:
- PPIs
- Prokinetics - metoclopramide

Renal management
- ACEIs is crucial in the management of scleroderma renal crisis.

Immunosuppressive therapy:
- Corticosteroids, methotrexate, mycophenolate mofetil, and cyclophosphamide can be used to reduce inflammation

Question 24

What are the leading causes of mortality in SSc?

Answer 24

Pulmonary Disease: ILD and PAH are the leading causes of death in SSc. Early detection and intervention can improve outcomes.
* Interstitial Lung Disease (ILD): Often occurs in dcSSc. Progressive fibrosis can lead to respiratory failure.
* Pulmonary Arterial Hypertension (PAH): More common in lcSSc. It carries a high mortality risk, especially if not detected and treated early.

Scleroderma Renal Crisis:
* Characterised by sudden-onset hypertension and renal impairment

Question 25

Antibodies:
* [] is associated with ILD
* [] are associated with PAH.

Answer 25

• Anti-Scl-70 (anti-topoisomerase I) is associated with ILD
• anti-centromere antibodies are associated with PAH.

Question 26

Answer 26

ANA

Question 27

Which drugs do you use to tx the arthritis in SSc? [1]

Answer 27

Methotrexate

Question 28

Describe different causes of gout

Answer 28

Due to hyperuricaemia:

Inherited causes
- Lesch-Nyhan syndrome

Acquired causes
- XS purine
- malignancy
- XS alcohol

Underexcretion:
- renal disease
- lead nephropathy
- hypothyroidism

Drugs:
- Thiazides
- Aspirin (low dose)
- Alcohol
- Ciclosporin

Question 29

Describe how you dx gout [3]

Answer 29

Clinical features and Hx

Synovial fluid aspiration
- This is the gold standard investigation for the diagnosis of gout but is often not required if sure
- presence of needle-shaped monosodium urate crystals that are negatively birefringent under plane-polarised light

Serum uric acid
- Levels should be taken 4-6 weeks following an acute attack to confirm hyperuricemia
- Hyperuricaemia is NOT diagnostic of gout however, increased levels do correlate with increased risk of developing gout.
- Though suggestive, elevated levels are not themselves diagnostic of gout

NOTE: During an acute attack, plasma urate levels often fall.

Question 30

Which disease is associated with pseudogout? [1]

Answer 30

Haemochromatosis

Question 31

Describe what is meant by palindromic rheumatism

Answer 31

Recurrent attacks of painful joint swellign

Question 32

Describe what tophi are / caused by? [1]

Answer 32

Tophi are nodules composed of MSU crystals surrounded by a chronic inflammatory reaction, and can develop in the soft tissues, cartilage, and bones.

Question 33

Which patients are more likely to acute polyarticular gout? [2]

Answer 33

Acute polyarticular gout:
- It is more likely to occur in patients with longstanding hyperuricaemia or those with co-morbid conditions such as renal impairment or cardiovascular disease.

Question 34

How do you differentiate gout and septic athritis? [1]

Answer 34

Synovial fluid in septic arthritis typically demonstrates a high leukocyte count with neutrophil predominance. Gram stain and culture can identify the causative organism.

Question 35

Describe the general managment plan and first and second line tx for acute gout?

Answer 35

General advice:
- Advise rest, ice and elevation.
- Lifestyle measures such as weight loss, diet and alcohol consumption should be discussed.

First-line therapy:
- Offer NSAIDs (e.g. naproxen) OR oral colchicine.
- Co-prescribe a PPI for gastric protection if giving an NSAID. Aspirin is not indicated.

Second-line therapy:
- If NSAIDs or colchicine are ineffective or contraindicated - prednisolone 15mg/day can be used

NB: if the patient is already taking allopurinol it should be continued

Question 36

What is urate-lowering therapy (ULT)? [1]

When is it indicated? [1]

(aka what is the long term management for gout)

Answer 36

Allopurinol is first-line
- indicated after first attack of gout
- xanthine-oxidase inhibitor that prevents the conversion of hypoxanthine to xanthine and xanthine to uric acid.
- cover with colchicine / NSAID
for 3 - 6 months

Febuxostat (xanthine oxidase inhibitor) is second line
- may be used if allopurinol is contraindicated.

Question 37

Which medications can trigger gout? [2]

Answer 37

furosemide / loop diuretics
thiazide diuretics

Question 38

Describe why purine production might occur (and cause gout) [3]

Answer 38

Purine overproduction:
- This occurs when there is increased cell turnover or lysis of cells leading to release of purines and breakdown to uric acid
- Causes include myelo- or lymphoproliferative disorders, psoriasis and use of chemotherapy agents.

Question 39

Why might gout cause disrupted U&Es? [2]

Answer 39

Kidney stones may occur due to deposits of MSU crystals in the urinary tract as a result of hyperuricaemia

gout can cause kidney disease - passage of MSU crystals through kidneys causing scarring. This scarring then reduces functionality of the kidneys.

Question 40

Describe bone complications of gout [2]

Answer 40

Repeated attacks of gout and the presence of tophi all contribute to bone erosion and weakening of joints resulting in degenerative arthritis. In the most serious of cases, surgery will be required to rectify this damage.

A 2018 population-based study found that gout conferred a 20% increased risk of osteoporosis.

Question 41

Answer 41

Pseudogout

Question 42

Answer 42

inhibits microtubule polymerization by binding to tubulin, interfering with mitosis. Also inhibits neutrophil motility and activity

Question 43

A boy with a history of learning difficulties and self-mutilation presents with recurrent episodes of gout is a stereotypical history of which disease? [1]

Answer 43

Lesch-Nyhan syndrome

Question 44

Define pseudogout [1]

Describe the pathophysiology [1]

Answer 44

Pseudogout is a crystal arthropathy, which may cause an acute inflammatory arthritis from deposition of calcium pyrophosphate.
* Chondrocytes are the principle cell involved in the formation and deposition of CPP.
* Chondrocytes are the only cell type found in articular cartilage - essential for generating cartilage
* In pseudogout, excess pyrophosphate production causes local CPP supersaturation, crystal formation and deposition.
* CPP crystals stimulate a proinflammatory response leading to activation of phagocytes and neutrophils.
* The inflammatory response is usually self-limited due to the modification of CPP crystals (e.g. addition of lipoproteins), which reduces the inflammation.

Question 45

5Suffering from which other patholigies may increase the liklihood of suffering from pseudogout? [4]

Answer 45

• haemochromatosis
• hyperparathyroidism
• acromegaly
• low magnesium, low phosphate
• Wilson’s disease

Question 46

Dx of pseudogout? [2]

Answer 46

Based on synovial fluid analysis and plain film radiography:
- A definitive diagnosis of pseudogout (i.e. acute CPPD disease) requires evidence of BOTH CPP crystals on synovial fluid analysis and classical radiographic changes.

Radiograph findings include:
- cartilage calcification (CC) (will appear as a thin opaque line)

Question 47

Describe the treatment plan for pseudogout?

Answer 47

The majority of acute flares of pseudogout will resolve within 7-14 days

Joint injection:
- useful if symptoms limited to ≤2 joints.
- Medication choice is corticosteroid in combination with lidocain

Medications:
- NSAIDs or
- Colchicine
- A short course of corticosteroids can be used in patients who don’t respond to first line treatments

Question 48

Describe what is meant by palindromic rheumatism [1]

Tx? [1]

RF for which disease? [1]

Answer 48

Rare type of inflammatory arthritis
- causes attacks of joint pain and swelling, the symptoms disappear, and the affected joints go back to normal with no lasting damage

Half of the people who have palindromic rheumatism eventually develop rheumatoid arthritis (RA)

Tx:
- NSAIDS
- Colchicine
-