Connective Tissue Diseases Part 2

Question 1

What are some general symptoms of connective tissue diseases?

Answer 1

Dry eyes and mouth, Sjogren’s (Sicca) syndrome, poor dental health, mouth ulcers, changes in appearance, skin changes/rashes, Raynaud’s, myalgia, arthralgia

Question 2

What are some symptoms of complications caused by connective tissue diseases?

Answer 2

SOB, chest pain, GORD, dysphagia, fatigue, tiredness, pain

Question 3

What are the symptoms of Sjogren’s syndrome?

Answer 3

Dry eyes (gritty feeling), dry mouth, vaginal dryness, bilateral parotid gland enlargement, joint pains, fatigue, unexplained increase in dental caries

Question 4

What antibodies are involved in Sjogren’s syndrome?

Answer 4

Anti-Ro, Anti-Jo

May also have raised IgG and PV/ESR

Question 5

What are some complications of Sjogren’s syndrome?

Answer 5

Increased risk of lymphoma, less commonly associated with organ complications than other CTDs

Question 6

What is systemic sclerosis (scleroderma)?

Answer 6

Multi-system autoimmune disease characterised by vasculopathy, auto-immunity and fibrosis

Question 7

What are the classic symptoms of systemic sclerosis?

Answer 7

Raynaud’s, skin thickening, dysphagia, GORD, telangiectasia, calcinosis, +/- SOB

Question 8

What are red flag symptoms in systemic sclerosis?

Answer 8

Onset of Raynaud’s in mid-adulthood
Raynaud’s and SOB/telangiectasia
Digital ulcers/ischaemia
Skin tightness/loss of dexterity of hands

Question 9

How is the skin involved in diffuse cutaneous systemic sclerosis?

Answer 9

Skin involvement on extremities above and below elbows and knees (plus face and trunk)

Question 10

How is the skin involved in limited cutaneous systemic sclerosis?

Answer 10

Skin involvement on extremities and only below elbows and knees (and face)

Question 11

What antibodies are involved in systemic sclerosis?

Answer 11

Anticentromere = 20-30%
Antitopoisomerase (anti-Scl-70)
Anti-PM-Scl
Anti-To/Th
Anti-RNA polymerase (20%)

Question 12

What facial changes occur in systemic sclerosis?

Answer 12

Small mouth with puckering, beaked nose, telangiectasia, thickened/tight skin (lack of wrinkles)

Question 13

What are some GI complications of systemic sclerosis?

Answer 13

Dysphagia, GORD, gastric antral vascular ectasia (watermelon stomach), small intestinal bacterial overgrowth, malabsorption, fluctuating bowel habit, faecal incontinence

Question 14

What are some cardio and resp complications of systemic sclerosis?

Answer 14

Interstitial lung disease, pulmonary arterial hypertension (probably vasculopathy), myocardial disease

Question 15

What are some renal complications of systemic sclerosis?

Answer 15

Scleroderma renal crisis, non-progressive renal dysfunction

Question 16

What may systemic sclerosis lead to?

Answer 16

Sclerodactyly, digital ischaemia, myositis

Question 17

What is the classic triphasic presentation of Raynaud’s?

Answer 17

Blanching (white), acrocyanosis (purple/blue), reactive hyperaemia (redness)

Question 18

What are some treatments for Raynaud’s and recurrent digital ulcers (list from Reynaud’s treatments to treatments for ulcers)?

Answer 18

Calcium channel blockers = nifedipine usually first line
PDE-5 inhibitor = sildenafil
Prostacyclin infusion = iloprost
Endothelin receptor antagonist

Question 19

What are some drugs used for general Raynaud’s treatment?

Answer 19

Fluoxetine, ARBs, nitrates

Question 20

What is the main symptoms of pulmonary hypertension?

Answer 20

Predominantly SOB on exertion

Question 21

What are some risk factors for pulmonary hypertension?

Answer 21

Telangiectasia, anticentromere antibody, increased disease duration (e.g systemic sclerosis)

Question 22

What are some features of pulmonary hypertension?

Answer 22

Must screen for it yearly in at risk patients, progressive complication that can lead to right heart failure

Question 23

How is pulmonary hypertension treated?

Answer 23

Aimed at slowing progression
PDE 5 inhibitor = sildenafil/tadalafil/vardenafil
ERA = bosentan/ambrisentan/macitentan 
Eproprostenol infusions
Oxygen

Question 24

How does pulmonary fibrosis present?

Answer 24

Progressive SOB, usually associated with a cough, bilateral crackles on chest examination, due to hardening of lung tissue (less pliable and more inefficient)

Question 25

What are the pulmonary function test results for a patient with pulmonary fibrosis?

Answer 25

Restrictive pattern, reduced forced vital capacity, reduced transfer factor, must be done yearly

Question 26

How is pulmonary fibrosis treated?

Answer 26

Mycophenolate mofetil = causes immunosuppression
Rarely cyclophosphamide = for very aggressive disease
Ritiximab = second line agent
Nintedanib = antifibrotic
Rarely lung transplant

Question 27

What are some features of systemic sclerosis renal crisis?

Answer 27

Associated with anti-RNA polymerase III antibody, usually early in disease, high dose of steroids puts people at risk

Question 28

What occurs in systemic sclerosis renal disease?

Answer 28

Uncontrolled hypertension with proteinuria and rapidly worsening renal function = treated with ACE inhibitors (sometimes need dialysis)

Question 29

How is skin fibrosis treated?

Answer 29

Methotrexate, mycophenolate