Connective Tissue Diseases

Question 1

What are the 4 main connective tissue diseases? Name them from most to least common.

Answer 1

Sjorgens

Myositis

SLE

Scleroderma

Question 2

What is the are the colour changes associated with Raynaud’s?

Answer 2

Triphasic:

Pallor → Cyanosis → Erythema

White → Blue → Red

Question 3

What is involved in the immunological pathology of SLE?

Answer 3

Autoantibody formation:

ANA

dsDNA

Sm

Ro/La

Question 4

If testing positive for ANA, what is the follow up test?

Answer 4

ENA (done by ELISA)

Question 5

What happens to complement factors in SLE?

Answer 5

C3 and C4 are low because they are used up in excessive activation

Question 6

Name common clinical features of SLE

Answer 6

Rash - Butterfly/Malar

Arthritis

Oral Ulcers

Alopecia

Serositis

Renal, Neurological, Haematological

Glomerulonephritis

Question 7

How do you diagnose SLE?

Answer 7

Clinical Features + History

Urine and blood

Serology: ANA (100%)

dsDNA (50%); Anti-Ro/La/Sm

Low C3 and C4

Question 8

What is the diagnostic criteria for Inflammatory Muscle Disease (Polymyositis/Dermatomyositis)

Answer 8

Weakness - Symmetrical, proximal muscles

Muscle enzymes - ↑ (CPK, Aldolase, Transaminases, LDH)

EMG - myopathic abnormalities

Muscle biopsy changes

Rash - typical of dermatomyositis

Question 9

Name three physical signs in the hands and face for polymyositis/dermatomyositis

Answer 9

Heliotrope Rash - around eyes

Guttin’s Papules - finger joints

Mechanics hands - fingers dry and crusty

Question 10

What are the treatment options for Polymyositis/Dermatomyositis

Answer 10

Steroids +/- Immunosuppressants

Methotrexate/Cyclophosphamide/Biologics

Question 11

What does CREST stand for? and what does it represent?

Answer 11

Local Scleroderma

C - calcinosis

R - Raynauds

E - oEsophageal dysmotility

S - Sclerodactyly

T - Telangectasia

Question 12

How do local and diffuse scleroderma affect the pulmonary system and renal?

Answer 12

Diffuse - Pulmonary Fibrosis

Local - Pulmonary Hypertension

Both → Renal crisis

Question 13

Which autoantibodies are involved in diffuse and limited scleroderma?

Answer 13

Diffuse → 9-Anti-scl70

Limited → Anti-centromere

Question 14

What are the clinical features of Sjorgen’s?

Answer 14

Sicca complex - dry eyes, mouth

RA or other CTD

Salivary gland enlargement

Purpura

Renal Tubular Acidosis or other tubular disorder

Question 15

What auto antibodies are present in Sjorgen’s?

Answer 15

ANA (98%)

RF (90%)

Anti-Ro (SSA), Anti-La (SSB)

Question 16

What is Anti-SSA and Anti-SSB formerly known as? and what CTD conditions are they associated with?

Answer 16

Anti-SSA = Anti-Ro → Neonatal Lupus syndrome

Anti-SSB = Anti-La → Neonatal Lupus and Sjorgens

Question 17

Name 4 specific auotantibody associations with SLE

Answer 17

dsDNA

Anti-Sm

Anti-SSA

ANti-SSB

Also Anti-U1-RNP - mixed CTD: overlappoing SLE, RA, Polymyositis and Scleroderma

Question 18

What are the treatment options for SLE?

Answer 18

Hydroxychloroquine - skin and joint manifestations

Prednisolone (steroid) - significant systemic disease

IV Cyclophosphamide/MMF - Very severe (CNS/Renal involvement)

Question 19

How does diffuse scleroderma present?

Answer 19

Skin involvement proximal to elbows

Short history of Raynauds

Question 20

What does Sjorgens increase the risk of?

Answer 20

44x increase of lymphoma