Connective Tissue Disease

Question 1

Connective Tissue Diseases examples

Answer 1

-Systemic lupus erythematosus (SLE)
-Antiphospholipid antibody syndrome (APL)
-Systemic Sclerosis (Scleroderma)
-Polymyositis/Dermatomyositis
-Sjögren’s syndrome (SjS)
-Miscellaneous (Mixed CTD, undifferentiated CTD, overlap syndromes)

Question 2

Pathogenesis of CTDs

Answer 2

-Autoimmune (presence of pathogenic autoantibodies, formation of immune complexes, infiltration of inflammatory cells within tissues/organs/vessels)

Question 3

What are CTDs?

Answer 3

-A group of related disorders
-Overlapping disorders
-Most commonly affect women
-Family tendency
-Unknown aetiology, multifactorial

Question 4

Epidemiology of CTDs

Answer 4

-SjS= 9:1 female, 40-50yrs
-SLE= 8:1, 15-40yrs
-Scleroderma= 4:1, 30-50yrs
-Myositis= 3:1, 40-60yrs

Question 5

General features of CTDs

Answer 5

-Fatigue
-Fever
-Anorexia
-Weight loss
-Lymphadenopathy
-Depression

Question 6

Describe systemic sclerosis

Answer 6

-Generalised disorder of CT affecting skin (scleroderma) and internal organs
-Characterised by fibrotic arteriosclerosis of peripheral and visceral vasculature
-Extracellular matrix accumulation (collagen) in skin and viscera
-Associated with specific auto-antibodies
-Systemic variants: diffuse and limited (CREST) sclerosis

Question 7

Limited (CREST) vs diffuse scleroderma

Answer 7

-BOTH: skin thickening, Raynaud’s, telangiectasia, oesophageal disease, calcinosis

-CREST: distal skin thickening only, late pulmonary hypertension, anti-centromere antibodies!! Calcinosis, Raynaud’s, Eosophageal involvement, Sclerodactyly, Telangiectasia

-Diffuse disease: proximal skin thickening (chest wall and abdomen), bowel involvement, cardiac fibrosis, interstitial lung disease, renal crisis, anti-Scl-70 antibodies!!

Question 8

Clinical features of scleroderma

Answer 8

-Raynaud’s phenomenon
-Calcinosis
-Ulceration- digital
-Nailfold capillaroscopy
-Facial: small mouth, tightening of skin around mouth (“mousehead”); Vitiligo or hyperpigmentation; Telangiectasia (= dilated venules, capillaries and arterioles)

-GI: Multiple wide-mouthed diverticula of the colon, decreased peristaltic activity and dilatation of the esophagus and small bowel (endoscopy)
-Pulmonary: Interstitial fibrosis, Pulmonary hypertension (CXR)
-Cardiac: CCF, arrhythmias (ECHO)
-Renal: Accelerated HT, Renal crisis

-ANA usually positive

Question 9

Treatment of scleroderma

Answer 9

-Treatment of Raynaud’s phenomenon with cold avoidance and vasodilators (Nifedipine, Amlodipine)
=IV prostacyclin if digital ischaemia occurs
-Treatment of oesophagitis with proton pump inhibitors (high dose omeprazole)
-Treatment of renal crisis with ACE inhibitors (1)
-Treatment of interstitial lung disease with immunosuppressive therapy (azathioprine, cyclophosphamide)

Question 10

Causes of death in systemic sclerosis

Answer 10

-Renal crisis
-Pulmonary hypertension
-Myocardial ischaemia

Question 11

Overall history in CTD

Answer 11

-Photosensitive skin rash
-Polyarthritis or polyarthralgia affecting small joints
-Pleurisy or pericarditis
-Muscle pain and weakness
-Dyspnoea
-Severe Raynaud’s
-Seizures, focal neurological defects, psychosis
-Mouth ulcers
-Dry eyes, dry mouth
-Hair loss
-Recurrent miscarriages

Question 12

Examination in CTD

Answer 12

-Skin rash
-Synovitis
-Mouth ulcers
-Scarring alopecia
-Sclerodactyly (tightening and thickening of skin over digits)
-Raynaud’s with digital ulceration
-Telangiectasia
-Pleural or pericardial effusion

Question 13

Investigations of CTD

Answer 13

-FBC and ESR. (ESR raised, anaemia, leukopenia or thrombocytopenia).
-Immunology. ANA strongly positive, anti dsDNA positive, extractable nuclear antigen (ENA) positive