Connective tissue diseases (R4)

Question 1

In connective tissue diseases multisystem organ involvement is common, list 4 examples of this

Answer 1

Question 2

What is SLE?

Answer 2

Multisystem autoimmune disorder with multiorgan involvement and a broad range of disease manifestation that vary over time

Question 3

State the following about SLE:

• Who it primarily affects
• Peak age
• Ethnicitys at an increased risk

Answer 3

Primarily affects women of childbearing age M:F: 1:12

Peak incidence 15-45 years old

African, Caribbean and Chinese are at higher risk

Question 4

What is the most common form of chronic SLE?

Answer 4

Discoid SLE

Question 5

SLE presentation summary

Answer 5

• Fatigue, Wt loss, Fever
• Arthralgia, Myalgia and non-erosive arthritis
• Photosensitive malar rash
• Lymphadenopathy and splenomegaly
• SOB, Pleuritic chest pain
• Mouth ulcers, hair loss
• Raynaud’s phenomenon

Question 6

Describe the typical Rash of SLE

Answer 6

Photosensitive malar rash - “butterfly” shaped across the nose and cheek bones

Question 7

List 4 clinical musculoskeletal manifestations of SLE

Answer 7

1. Non-erosive Arthritis
2. Jaccoud arthropathy
3. Arthralgia, Myalgia
4. Myositis

Question 8

List 4 dermatological manifestations of SLE

Answer 8

1. Photosensitive malar rash
2. Mouth ulcers
3. Hair loss
4. Cutaneous vasculitis (splinter haemorrhages/ purpura)

Question 9

List 2 hematological manifestations of SLE

Answer 9

1. Anemia of chronic disease (normocytic)
2. Lymphopenia

Hemolyticanemia, Leukopenia, Thrombocytopenia, Pancytopenia

Question 10

List 2 reticuloendothelial manifestations of SLE

Answer 10

Lymphadenopathy and Splenomegaly

Question 11

List 2 pulmonary manifestations of SLE

Answer 11

1. Pleural effusion
2. Pneumonitis

ILD, Pulmonary hemorrhage, pulmonary hypertension, PE

Question 12

List 3 cardiac manifestations of SLE

Answer 12

1. Pericarditis (most common)
2. Raynaud’s
3. Myocarditis (arrhythmias and HF)

Question 13

List 4 renal manifestations of SLE

Answer 13

Lupus nephritis - most common cause of SLE related death

ankle oedema, active sediment, hematuria, proteinuria, nephrotic syndrome, reduced eGFR

Question 14

List 4 SNS and 4 PNS manifestations ‘neuropsychiatric SLE’

Answer 14

Question 15

List 2 autoantibodies associated with SLE

State which is the most specific

Answer 15

1. ANA
2. anti-dsDNA (specific to SLE)

+ Anti; Smith, centromere, Ro, La, Scl70, Jo1

Question 16

What 2 criteria allow a diagnosis of SLE to be made?

Answer 16

SLICC Criteria or the ACR Criteria

Question 17

Explain the SLICC criteria

Answer 17

1. At least 4 criteria incl at least one clinical AND one immunologic OR
2. Biopsy proven lupus nephritis with positive ANA or Anti-DNA

Question 18

First line treatment for SLE

Answer 18

1. NSAIDs
2. Steroids (prednisolone)
3. Hydroxychloroquine (first line for mild SLE)
4. Suncream and sun avoidance

Question 19

What is Sjogren Syndrome?

Answer 19

A slowly progressive, inflammatory autoimmune disease affecting primarily the exocrine glands

Question 20

Compare primary vs secondary Sjogrens syndrome

Answer 20

Primary: condition occurs in isolation.

Secondary: occurs related to SLE or RA

Question 21

Pthophysiology of Sjogren Syndrome

Answer 21

Lymphocytic infiltration replaces functional epithelium leading to decreased exocrine secretions

Question 22

Is Sjogren Syndrome more common in males or females?

What is the peak age affected?

Answer 22

F:M= 9:1

40-50 years old

Question 23

List 3 clinical features of Sjogren Syndrome

Answer 23

• Fatigue
• Dry eyes, sensation of sand in eyes/ burning, redness of the eyes
• Dry mouth may be associated with difficulty eating and swallowing food

Question 24

List 4 EXTRA-glandular manifestations of Sjogren Syndrome

With these manifestations what other disease must we always consider?

Answer 24

• Arthritis, arthralgia
• Skin : Raynaud’s phenomenon, palpable purpura
• Pulmonary: ILD, hilar lymphadenopathy
• Renal: interstitial nephritis, GN (rare)
• Neuromuscular: peripheral sensomotor neuropathy, cranial neuropathy

ALWAYS THINK LYMPHOMA!!

Question 25

List 4 Laboratory findings of Sjogren Syndrome

Answer 25

1. Anemia of chronic disease 2. Lymphopenia 3. Increased ESR, normal CRP 4. + ANA, Ro, La, RA 5. Hypergammaglobulinemia 6. Reduced C3, C4

Question 26

Which antibodies are specifically associated with Sjogren’s syndrome?

Answer 26

Anti-Ro and Anti-La

Question 27

List 3 diagnostic investigations for Sjogren Syndrome

Answer 27

1. Salivary flow assessment: \<1.5ml/15 min 2. SCHIRMER TEST: \<5mm in both eyes in 5 min 3. Rose Begal staining: (stain of damaged epithelium)

Question 28

Explain the Schirmer Test

Answer 28

Filter paper inserted under lower eyelid with strip hanging out for 5 minutes Distance along strip that becomes moist is measured Normally tears should travel 15mm, \< 10mm is significant

Question 29

List 4 treatments for Sjogren Syndrome

Answer 29

1. Artificial tears 2. Artificial saliva 3. Vaginal lubricants 4. Hydroxychloroquine is used to halt the progression of the disease

Question 30

What is Scleroderma?

Answer 30

Autoimmune disease characterised by fibrosis across multiple organ systems and increased production of collagen in tissues Also known as Systemic Sclerosis

Question 31

Is scleroderma more common in males or females? What is the peak age affected?

Answer 31

F:M: 4:1 45-60 y.o

Question 32

What are the 4 criteria that classify scleroderma?

Answer 32

1. SKIN THICKENING PROXIMAL TO THE MCP + 2. Sclerodactyly 3. Digital pitting scars 4. Bibasilar lung fibrosis

Question 33

What are the 2 types of Scleroderma?

Answer 33

Limited and Diffuse

Question 34

What is Diffuse Cutaneous Systemic Sclerosis?

Answer 34

Subcategory of the scleroderma that affects multiple systems Highest association with African Americans

Question 35

What is Limited Cutaneous Systemic Sclerosis?

Answer 35

Subcategory of Scleroderma that affects fewer organs - sparing the kidneys and skin on the trunk and proximal limbs Also known as CREST syndrome

Question 36

List 5 features of limited cutaneous systemic sclerosis (Hint: CREST)

Answer 36

* Calcinosis * Raynaud’s phenomenon * Esophageal dysmotility * Sclerodactyly * Telangiectasia

Question 37

What antibody is associated with limited vs diffuse scleroderma?

Answer 37

Limited: Anti-centromere antibody Diffuse: Anti-scl 70

Question 38

List 3 initial features of systemic sclerosis

Answer 38

1. Skin becomes tight 2. Fingers become stiff and inflexible 3. Symptoms of Raynauds

Question 39

List 4 later features of systemic sclerosis

Answer 39

1. Tightening of skin on the face and around lips 2. Fatigue 3. Joint and muscle pain 4. Ulceration 5. Vascular disease, Incl CAD 6. Pulmonary fibrosis and PAH 7. Renal failure (“scleroderma renal crisis”)

Question 40

List 4 signs of systemic sclerosis

Answer 40

1. Telangiectasia and calcinosis 2. Barrnett’s sign: vertical striation with neck extension 3. Mauskopf facies 4. Salt and pepper (changes in pigmentation)

Question 41

List 4 differences between limited vs diffuse scleroderma

Answer 41

Question 42

What is Raynaud’s phenomenon

Answer 42

Episodic peripheral ischaemia in response to cold or emotion Can be Primary or Secondary

Question 43

Is Raynaud’s phenomenon more common in males of females?

Answer 43

F:M: 9:1

Question 44

Explain the 'triphasic reaction' of Raynaud’s

Answer 44

Skin changes from white to blue to red 1. Pallor: **vasoconstriction** of digital vessels 2. Cyanosis: **deoxygenation** of static venous blood 3. Red : reactive **hyperemia** due to reperfusion

Question 45

Raynaud’s is most commonly associated with what disease?

Answer 45

SLE

Question 46

First line management for Raynauds

Answer 46

Nifedipine (dihydropyridine CCBs)

Question 47

Revise slide on connective tissue diseases

Answer 47