Connective Tissue Disease, Scleroderma and Polymyositis

Question 1

What are the connective tissue diseases?

Answer 1

• RA
• SLE
• systemic sclerosis (scleroderma)
• poly/dermatomyositis
• Sjogren’s syndrome
• overlap (MCTD)
• undifferentiated CTD

Question 2

What is Sjogren’s and how does it present?

Answer 2

• autoimmune destruction of lacrimal and salivary glands.
• presents as DRY EYES (keratoconjunctivitis sicca), DRY MOUTH (xerostomia), and recurrent dental caries in an older woman (aka SICCA syndrome).
• “can’t chew a cracker, dirt in my eyes”

Question 3

What antibodies will you see in Sjogren syndrome?

Answer 3

• anti-SSA and anti-SSB

Question 4

What should you think about when a pt presents with Raynaud’s phenomenon (CTD)?

Answer 4

• systemic sclerosis (scleroderma)
• SLE
• RA
• PM/DM (uncommon)
• MCTD

Question 5

What pts are prone for Raynaud’s?

Answer 5

• those with positive ANA and abnormal capillary loops

Question 6

What 3 diseases are associated with periungual erythema?

Answer 6

1. poly/dermatomyositis
2. SLE
3. systemic sclerosis (scleroderma)
   * all 3 together is called mixed connective tissue disease (MCTD) or overlap disease.

Question 7

In what 3 connective tissue diseases will you see bibasilar fibrosis; aka pulmonary fibrosis?

Answer 7

1. poly/dermatomyositis= striated muscle
2. scleroderma= smooth muscle
3. MCTD

Question 8

What is mononeuritis multiplex?

Answer 8

• a painful, asymmetrical, asynchronous sensory and motor peripheral neuropathy involving isolated damage to at least 2 separate nerve areas.

Question 9

** What are the 3 most common diseases that cause an asymmetric polyneuropathy (aka mononeuritis multiplex)? (TEST QUESTION)

Answer 9

• SLE, RA, or PAN (vasculitis)

Question 10

Does myositis define polymyositis?

Answer 10

YES

Question 11

What antibody goes with MCTD?

Answer 11

• anti-RNP

Question 12

*** What are the characteristic signs of poly/dermatomyositis?

Answer 12

• proximal muscle weakness (girdle and hips).
• muscle enzyme elevation (creatine kinase and aldolase)
• gottrons sign (rash on hands)
• shawl’s sign
• calcinosis cutis

Question 13

At what age does poly/dermatomyositis occur?

Answer 13

• 5-14
• 45-54
• females more

Question 14

What antibodies are associated with Poly-Dermatomyositis?

Answer 14

• anti-Jo-1
• anti-SRP
• ANA

Question 15

Will you see an abnormal EMG with poly-dermatomyositis?

Answer 15

• YES

* do unilateral EMG

Question 16

How do we manage poly-dermatomyositis?

Answer 16

• steroids
• cytotoxics
• methotrexate
• azathioprine
• IV immunoglobulin if severe

Question 17

What is systemic sclerosis (scleroderma)?

Answer 17

• autoimmune disorder characterized by sclerosis of skin and visceral organs.
• classically presents in middle-aged females (30-50 years).

Question 18

What is characteristic of systemic sclerosis (scleroderma)?

Answer 18

• thickening of the skin proximal to the MCP joints.

Question 19

What is the pathogenesis of scerloderma?

Answer 19

• fibroblast activation leads to deposition of collagen and FIBROSIS of the skin.
• endothelial dysfunction leads to inflammation, vasoconstriction, and secretion of growth factors.
• technically a MICROANGIOPATHY of the capillaries.

Question 20

What is the prototype of scleroderma?

Answer 20

• CREST syndrome= Calcinosis/anti-cintromere antibodies, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias of the skin

Question 21

What is the sclerodactyly?

Answer 21

• distal thickening

Question 22

What is the life-threatening complication that occurs in 10% of pts with scleroderma?

Answer 22

• pulmonary fibrosis

Question 23

What antibody is seen in 80% of pts with scleroderma?

Answer 23

• anti-centromere antibody (ACA)

Question 24

What is it called when pts with scleroderma lose the distal tufts of their digits?

Answer 24

• acroosteolysis from erosion

Question 25

How does distal differ from diffuse scleroderma?

Answer 25

- limited= skin changes distal to elbow/wrist. Telangiectasias are often involved and dilated capillaries loops. diffuse= skin changes spread proximal to elbow with drunk tendons involved. Associated with renal, cardiac, GI, and pulmonary fibrosis

Question 26

How do we treat pulmonary fibrosis in pts with scleroderma?

Answer 26

- endothelin-1 receptor antagonists - phosphodiesterase type 5 inhibitors (sildenafil) - prostanoids

Question 27

How do we manage scleroderma?

Answer 27

- NSAIDs for joint pain. - Penicillamine for skin and GI. - Nifedipine for Raynauds. - ACE inhibitors for HTN - Methotrexate, 5-FU...