Connective Tissue Diseases

Question 1

SLE pathophysiology

Answer 1

Precise mechanism unknown
Abnormal cell apoptosis resulting in cellular breakdown
Immune complex formation and deposition, resulting in complement-dependent inflammation of involved organs

Question 2

SLE and race

Answer 2

3x more common in Afro-Americans than whites
More prevalent and severe in Asians, Afro Americans, Afro caribeans, and Hispanics

More common in urban areas

Question 3

SLE: must have 4 out of 11 of these…

Answer 3

Malar rash 
Discoid rash 
Photo sensitivity 
Oral or nasal ulcerations 
Arthritis in 2 or more joints 
Serositis (pleuritis or pericarditis)
Renal disorder 
Neurological disorder 
Hematologic disorder 
Immunologic disorder 
Antinuclear antibody

Question 4

Nonspecific symptoms of SLE

Answer 4

Raynauds
Unexplained fever 
Alopecia
Fatigue
Myalgias, arthalgias

Question 5

Renal involvement in SLE

Answer 5

Nephritis
Nephrotic syndrome
Tubulointerstitial dz
IgG deposition*

• *clinically look for persistent Proteinuria and cellular casts
• *definitive diagnosis by biopsy

Question 6

Neurological involvement in SLE

Answer 6

Seizures

Psychosis

Question 7

Hematologic involvement in SLE

Answer 7

Hemolytic anemia
Leukopenia
Lymphopenia
Thrombocytopenia

Question 8

Lupus general info

Answer 8

Multi system variable disease of unknown etiology
Hormones play a role!
Adult females to males are 7-15:1
Child females to males are 3:1

65% on onset between 16-55 yo

Question 9

Immunologic disorder associated with SLE

Answer 9

Antiphospholipid syndrome- characterized by vascular thrombosis (arterial or venual)…pregnancy mortality
Pos anticardiolipin Abs
Abs to dsDNA

*false pos with syphilis

Question 10

ANA patterns in SLE

Answer 10

Diffuse or homogenous- least specific. High titers seen in SLE
dsDNA- most specific..SPECKLED and NUCLEOLAR important

Question 11

Histone ANA pattern

Answer 11

DRUG INDUCED LUPUS

Question 12

Centromere patterns

Answer 12

THINK CREST SYNDROME

Question 13

Drug induced lupus

Answer 13

Acts and looks like SLE but I’d reversible once offending drug is stopped

Hydralazine, procainimide, minocycline, chlorpromazine, isoniazid, penicillamine, methyldopa, interferon-alpha, infliximab

Question 14

Discoid lupus

Answer 14

Subset of lupus limited to the skin
Diagnosis confirmed by skin biopsy
ANA often negative
Prognosis good..

Question 15

Poor prognostic indicators for SLE

Answer 15

Renal dz
CNS dz
Early or late age 
Males 
Non whites 
Overall disease activity

Question 16

Late in SLE disease, complications/death more likely due to…

Answer 16

Thromboembolic disease

Question 17

Labs in SLE patients

Answer 17

BUN/Cr
UA
ANA (increased, watch patterns)
C3/C4 decreased 
CRP normal or increased 
ESR increased 
dsDNA present

Question 18

If renal involvement in SLE suspected….

Answer 18

Tissue biopsy

Question 19

SLE treatment for fatigue and skin rashes

Answer 19

hydroxychloroquine

Question 20

SLE treatment for renal dz

Answer 20

High do corticosteroids and/or powerful immunosuppressants like Cyclophosphamide

Question 21

Azathioprine, mycophenalate, methotrexate

Answer 21

Immunosuppressants often considered “steroid sparing”

Question 22

Pregnancy and SLE

Answer 22

Very risky!
Effective birth control and family planning
Must have dz und excellent control before conception
Close monitoring during pregnancy

Question 23

Most important when diagnosing SLE

Answer 23

LISTEN TO THE PATIENT! Figure out which symptoms are there

Don’t rely too much in ANA to make or break dx

Question 24

Scleroderma

Answer 24

Thickening, hardened skin
2 forms:
Systemic sclerosis
CREST syndrome (limited)

*females>males
Peak onset 30-50 yo

Question 25

Scleroderma pathophysiology

Answer 25

Poorly understood | Deposition of collagen and other matrix proteins in affected tissues

Question 26

Clinical presentation of systemic scleroderma (ss)

Answer 26

Skin: raynauds, thickening of chest, abdomen, face, upper arms, shoulders, hands, feet Pulm: interstitial lung dz and fibrosis GI: dysmotility, "watermelon stomach" Renal: acute renal failure w abrupt onset HTN. Mild Proteinuria MSKL: arthralgias, puffy hands early on, carpal tunnel **speckled pattern ANA

Question 27

Nail fold microscopy

Answer 27

Can help determine if Raynauds is associated w other systemic dzs (Ex SS)

Question 28

Systemic scleroderma treatment

Answer 28

Tx aimed at organs involved!

Question 29

Renal tx in SS

Answer 29

ACE inhibitors

Question 30

Raynauds tx in SS

Answer 30

Ca channel blockers

Question 31

GI tx in SS

Answer 31

Pro motility agents

Question 32

Pulmonary/lung tx in SS

Answer 32

Cyclophosphamide for lung dz | Viagra/Levitra and Bosantan for pHTN

Question 33

What tx to avoid in SS patients

Answer 33

High dose steroids!!!!!! Can lead to renal crisis**

Question 34

CREST syndrome

Answer 34

Limited scleroderma ``` Calcinosis Raynauds Esophageal dysmotility Sclerodactyly of fingers to the MCPs Telangiectasia ```

Question 35

Complications of CREST

Answer 35

* tends to be more benign than SS | complications. ..pulmonary HTN (must get annual pulm fx test)

Question 36

Polymyositis/dermatomyosits

Answer 36

Autoimmune inflammatory myopathy resulting in PAINLESS muscle weakness (sometimes a rash) ******DM IS OFTEN ASSOCIATED WITH MALIGNANCY IN ADULTS!!! (But not children) More common in females Peak ages 40-60

Question 37

Clinical presentation of polymyositis/DM

Answer 37

PAINLESS* muscle weakness of proximal muscle groups with gradual onset Pts complain of difficulty getting out of chair, climbing stairs, styling hair due to lack of power Early on...no signs of fascinations or muscle atrophy

Question 38

Skin manifestations in DM

Answer 38

Heliotrope rash of eyelids (purple eyeshadow) Gottrens papules on hands Shawl sign (redness on shawl area of body) Mechanic hands (Really dry, thick) Periungal erythema (nailbeds) Calcinosis cutis

Question 39

Manifestations (other than skin) in polymyositis/dermatomyosits

Answer 39

Pulmonary: interstitial lung disease, BOOP, diffuse alveolar damage Esophagus: dysphasia, gagging Misc: fever, polyarthritis, Raynauds Pos ANA plus other autoantibodies Elevated CPK!* Aldolase, AST, ALT may also be elevated

Question 40

CPK in DM

Answer 40

Elevated

Question 41

Diagnostic tools in DM

Answer 41

*muscle biopsy!!! | Must examine for malignancy!!!!

Question 42

DM treatment

Answer 42

High dose corticosteroids Methotrexate or Azathioprine *IV Ig for refractory/severe cases (DM will resolve if malignancy treated)

Question 43

Sjorgens syndrome general info

Answer 43

Autoimmune dz affecting exocrine glands causing dry eyes and dry mouth (sicca) Unknown cause Can be primary or secondary (often seen w RA or SLE) Female to male 20:1 Peak age 30-40

Question 44

Sjorgens pathophysiology

Answer 44

Trigger unknown Infiltration of lymphocytes to glands and are activated Cytokines released which promote parotid swelling, destruction and Localized inflammation B cells produce autoantibodies (SSA, SSB) and over time can transform from a benign polyclonal expansion to malignant expansion lymphocytes resulting in lymphoma

Question 45

Sjorgens clinical presentation

Answer 45

Sicca symptoms: dry eyes, dry mouth. Ask pt to chew saltine Parotid swelling Rash less common..purpura of lower extremities

Question 46

Sjorgens complications

Answer 46

Lymphoma Primary biliary cirrhosis Accelerates dental caries , corneal atrophy and ulceration Oral candiasis

Question 47

Sjorgens lab results

Answer 47

Rheumatoid factor and ANA >90% | Anti SSA 70-90% (antiSSB 50%)

Question 48

Schirmers test

Answer 48

Used to dx Sjorgens Place strip of paper in corner of patients eye against cornea *wetness at 5 minute should be >10mm

Question 49

Sjorgens treatment

Answer 49

Dry mouth..good hydration. Frequent dental visits (q3m), avoid medications that make symptoms worse (Salagen or Evoxac may be helpful) Dry eyes..artificial tears, lacrimal duct plugs, restasis eye drops