Connective tissue diseases

Question 1

Pathology of CREST syndrome

Answer 1

Formed of systemic sclerosis 
Calcinosis 
Raynaud's syndrome 
Esophageal dysmotility 
Sclerodactyly 
Telangiectasia

Question 2

Causes of CREST syndrome

Answer 2

Chronic autoimmune inflammation triggered by anticentromere antibodies

Question 3

S+S CREST

Answer 3

Calcific nodules under skin 
White-blue-red skin colour transitions in cold 
Dysphagia 
Sclerodactyly 
Telangiectasias on hands + face

Question 4

What are the complications of CREST syndrome?

Answer 4

Ischemic ulcers
Gangrene
Predisposition to skin infections
Upper GI bleeds

Question 5

Lab results for CREST syndrome

Answer 5

ANA + ACAs present

Question 6

Management of CREST syndrome

Answer 6

Steroids

Immunosuppressants (cyclosporine)

Question 7

Pathology of fibromyalgia

Answer 7

Central sensitisation, hypersensitivity to pain, sleep disturbances
Reduced serotonin
Increased substance P
Increased nerve growth factor

Question 8

S+S of fibromyalgia

Answer 8

Low threshold to pain
Widespread muscle pain
Sleep disturbances
Difficulty concentrating

Question 9

What are the symptom severity measures for fibromyalgia?

Answer 9

Fatigue, waking unrefreshed, cognitive symptoms, somatic symptoms 
0 = no problem 
1 = mild 
2 = moderate 
3 = severe

Question 10

Diagnostic criteria for fibromyalgia

Answer 10

Pain in >7 areas of body with symptom severity of >5 in >5 areas
Symptoms present > 3 months

Question 11

Management of fibromyalgia

Answer 11

Antidepressants - TCAs, SNRIs
Anticonvulsants
CBT

Question 12

Pathology of mixed connective tissue disease

Answer 12

Overlap autoimmune syndrome

SLE, systemic sclerosis, polymyositis

Question 13

Complications of mixed connective tissue disease

Answer 13

Pulmonary hypertension
Interstitial lung disease
Renal disease

Question 14

S+S of mixed connective tissue disease

Answer 14

Arthralgias 
Myalgias 
Swollen hands + puffy fingers 
Sclerodactyly 
Raynauds 
Fatigue 
Low grade fever

Question 15

Lab results for mixed connective tissue disease

Answer 15

High anti-U1 ribonucleoprotein antibodies (anti-U1-RNP)

High ANA, RF

Question 16

Management of mixed connective tissue disease

Answer 16

Steroids

Question 17

Pathology of scleroderma

Answer 17

AKA systemic sclerosis
Chronic inflammatory autoimmune disease resulting in damage to small blood vessels, excessive fibrosis
T helper cells activated + release cytokines, stimulate fibroblasts causing chronic inflammation

Question 18

What organs does scleroderma affect?

Answer 18

Skin
GI tract
Kidneys 
Muscles 
Heart 
Lungs

Question 19

Types of scleroderma

Answer 19

Limited - limited to fingers, forearms + face. Associated with anticentromere antibodies, may develop CREST
Diffuse - widespread skin involvement, rapid progression, associated with anti-DNA TI antibodies

Question 20

RF for scleroderma

Answer 20

Females
35-50
Genetics

Question 21

Complications of scleroderma

Answer 21

Excessive skin fibrosis - painful ulcers, disfigurement, disability
Renal + cardiac failure
Pulmonary insufficiency
Intestinal malabsorption

Question 22

S+S of scleroderma

Answer 22

Raynauds (precedes other symptoms)
Cutaneous changes of face + extremities (skin thickening + tightening, sclerosis, edema, erythema)
GI involvement - esophageal fibrosis, abdo pain, obstruction

Question 23

How is the diagnosis of scleroderma made?

Answer 23

Upper endoscopy (fibrosis)
High ANAs
High ACAs
Anemia

Question 24

Management of scleroderma

Answer 24

PPIs for reflux
CCB for Raynauds
ACEi for renal hypertension
Immunosuppressant therapy

Question 25

Pathology of Sjogren's syndrome

Answer 25

autoimmune inflammatory disease Lymphocytic infiltration Destruction of exocrine glands of eyes + mouth

Question 26

Causes of Sjogren's syndrome

Answer 26

``` Sicca syndrome (primary) Secondary (to RA) ```

Question 27

S+S of Sjogren's syndrome

Answer 27

Dry eyes, irritation + itching Oral dryness Salivary gland enlargement MSK symptoms, rashes, vasculitis + interstitial nephritis

Question 28

Complications of Sjogren's syndrome

Answer 28

Periodontal complications Oral infections MALT lymphoma

Question 29

Diagnostic tests for Sjogren's syndrome

Answer 29

``` Parotid gland MRI shows honeycomb pattern Leukopenia, thrombocytopenia, anemia High ESR ANA + RF high Schirmer test (reflex tear production) Salivary gland tests ```

Question 30

Management of Sjogren's syndrome

Answer 30

Secretagogues | Immunosuppressive therapy

Question 31

Pathology of SLE

Answer 31

Systemic autoimmune disorder Periods of flare ups + remittance Immune complexes deposit in kidneys, skin, joints + heart Type 3 hypersensitivity reaction Ab targeting molecules - type 2 hypersensitivity reaction

Question 32

RF for SLE

Answer 32

``` Genes UV radiation Smoking Viral + bacterial infections Medications Females 30-50 ```

Question 33

Complications of SLE

Answer 33

``` Libman-Sacks endocarditis MI Renal failure HTN Antiphospholipid syndrome - prone to developing clots ```

Question 34

S+S of SLE

Answer 34

``` Fever Joint pain Rash (malar rash over cheeks, discoid rash, general photosensitivity) Ulcers in oral/ nasal mucosa Serositis Myocarditis Renal disorders Seizures + psychosis Anemia, thrombocytopenia, leukopenia ```

Question 35

Management of SLE

Answer 35

Animalarial agents NSAIDs Corticosteroids Immunosuppressants

Question 36

What are the heritable connective tissue disorders?

Answer 36

``` Marfans Ehlers-Danlos Osteogenesis imperfecta Stickler syndrome Alport syndrome Congenital contractural arachnodactyly Loeys-Dietz syndrome ```