Fibrosing Disorders

Question 1

Most frequent symptoms of systemic sclersosis

Answer 1

• Reynaud’s phenomenon
• GERD (with or without dysmotility)
• Skin changes
• Puffy/swolen digits
• Arthralgia

Question 2

Patients with Raynaud phenomenon and features atypical for primary Raynaud phenomenon should . . .

Answer 2

Patients with Raynaud phenomenon and features atypical for primary Raynaud phenomenon should be evaluated for the possibility of scleroderma or another connective tissue disease

Question 3

___ makes diagnosis of scleroderma unlikely

Answer 3

Negative antinuclear antibody titers makes diagnosis of scleroderma unlikely

Question 4

Many patients with limited scleroderma have few ___.

Answer 4

Many patients with limited scleroderma have few observable cutaneous manifestations.

Question 5

Systemic sclerosis or scleroderma

Answer 5

• Names interchangable
• Chronic multisystem autoimmune disease resulting in excessive fibrosis
• Skin features include skin thickening proximal to MCPs, sclerodactyly, digital pitting, Reynaud’s phenomenon, and telangectasias
• Systemic features include lung fibrosis, joint disease, GI disease (esp. GERD), heart disease, kidney disease, and peripheral circulation loss
• Early symptoms include weight loss, musculoskeletal discomfort, fatigue, GERD heartburn, and new onset cold sensitivity or Reynaud’s

Question 6

Early scleroderma inflammation often manifests as. . .

Answer 6

. . . edema, erythema, and pruritis in the hands

Question 7

___ leads to excessive skin tightening in scleroderma.

Answer 7

Excessive deposition and crosslinking of collagen leads to excessive skin tightening in scleroderma.

Question 8

Dry, thickened patches of skin in sclerodermic patients will ___ in 30 to 50% of scleroderma patients.

Answer 8

Dry, thickened patches of skin in sclerodermic patients will ulcer in 30 to 50% of scleroderma patients.

Question 9

Involvement of the ___ is ubiquitous among patients with scleroderma

Answer 9

Involvement of the vasculature is ubiquitous among patients with scleroderma

Question 10

Excessive connective tissue thickening and tightening causes ischemia by. . .

Answer 10

. . . physically squeezing and blocking off arteries.

Question 11

Scleroderma-induced kidney ischemia is referred to as. . .

Answer 11

scleroderma renal crisis

Question 12

____ is the first manifestation of scleroderma in almost every patient.

Answer 12

Raynaud phenomenon is the first manifestation of scleroderma in almost every patient.

Question 13

Raynaud phenomenon

Answer 13

Stress and cold temperature induce an exaggerated vasoconstriction of the small arteries, arterioles, and arteriovenous shunts or thermoregulatory vessels of the skin of the digits. This is manifested clinically as pallor and cyanosis of the digits, followed by a reactive hyperemia after rewarming.

Unlike episodes of uncomplicated primary Raynaud phenomenon, attacks of Raynaud phenomenon in patients with scleroderma are often painful and may lead to digital ulcerations, gangrene, or amputation.

Question 14

Predictive factors for autoimmune disease in patients with Raynaud’s phenomenon

Answer 14

• ANAs
• Abnormal nailfold capillaries (also in dermatomyositis)
• Cases where Raynaud’s is associated with severe pain and vasospasm or signs of tissue damage

Question 15

Specificity and sensitivity for ANA in scleroderma

Answer 15

• Very sensitive
• Not entirely specific (could be several other rheumatic diseases)

Question 16

Answer 16

• Facial characteristics of scleroderma. Note:
  
  • The tightening of the skin, especially around the mouth
  • Microstomia (small mouth)
  • Telangiectasias

Question 17

Lung disease in scleroderma

Answer 17

• Two major presentations:
  
  • inflammatory alveolitis leading to interstitial fibrosis (present w/ dry cough)
  • pulmonary vascular disease leading to pulmonary arterial hypertension (present with severe dizziness or fatigue)
• May occur independently or concomitantly
• Both types usually presents as dyspnea on exertion but can be asymptomatic early in the course of the lung disease

Question 18

GI concerns of scleroderma patients

Answer 18

• sensation of food getting stuck in the mid or lower esophagus
• atypical chest pain
• cough
• heartburn
• must drink liquids to swallow solid dry food
• constipation alternating with diarrhea

Question 19

gastroparesis

Answer 19

Dysmotility of the esophagus and stomach caused by atrophy of the gastrointestinal tract wall smooth muscle that occurs with or without pathologic evidence of significant tissue fibrosis or obvious vascular insult to the bowel.

Symptoms are reflux and dysphagia, and constipation alternating with diarrhea

Question 20

Lower bowel dysmotility

Answer 20

slows the movement of bowel contents severely, allowing bacterial overgrowth, diarrhea, and malabsorption

Question 21

Renal involvement in scleroderma

Answer 21

Occurs in only 5% of patients, but life threatening when it does occur.

Characterized by the sudden onset of very severe (malignant) hypertension that, if untreated, can lead rapidly to renal failure and death

Question 22

Cardiac involvement in scleroderma

Answer 22

Frequently demonstrated by objective testing (e.g., echocardiography, thallium scan, cardiac MRI, or electrocardiogram) but is usually subclinical in the early stages of disease

Chest pain from pericarditis, palpitations from arrhythmias, or dyspnea on exertion from heart failure.

Question 23

___ is a common psychological comorbidity of scleroderma.

Answer 23

Depression is a common psychological comorbidity of scleroderma.

Likely reflects secondary factors such as degree of pain, personality traits, and lack of good social support systems

Question 24

Laboratory testing for scleroderma

Answer 24

• There is no single laboratory study to confirm diagnosis
• History and physical exam very important
• Autoantibodies by IF found in 95% of patients, especially ANA
• Anti-centromere antibodies associated with limited skin involvement, but more severe digital ischemia and pulmonary arterial hypertension
• Anti-Scl-70 antibodies associated with diffuse skin disease and interstitial lung disease
• Anti-RNA Pol III associated with diffuse skin disease, scleroderma renal crisis, digital ulcers, and malignancy

Question 25

Answer 25

Indirect immunofluorescence test showing presence of anti-centromere antibody

Question 26

Differential diagnosis for scleroderma

Answer 26

* Very broad, so just by category: * ther disorders that are associated with Raynaud phenomenon * those with similar skin changes * those with other components of systemic autoimmune rheumatic diseases (ike arthralgias and other autoantibodies)

Question 27

Treatment of scleroderma

Answer 27

* No overarching treatment exists, so treatments are phenotype-specific for individual involvements * Scleroderma skin disease tends to reach peak involvement over the first 18–24 months but then gradually improves even without therapy * Routine screening and early intervention for internal organ manifestations may significantly reduce morbidity and mortality

Question 28

Primary Raynaud's phenomenon

Answer 28

idiopathic and is associated with no identifiable abnormalities in blood vessel architecture

Question 29

Secondary Raynaud's phenomenon

Answer 29

patients may have complications of digital tissue ischemia, including recurrent digital ulcerations, rapid deep tissue necrosis, and amputation

Question 30

Some diseases which may induce a secondary Raynaud's phenomenon include. . .

Answer 30

* Scleroderma / systemic sclerosis * Lupus * Sjorgen's * Dermatomyositis

Question 31

All patients with a history of RP should be asked . . .

Answer 31

. . . about symptoms suggestive of autoimmune diseases * arthritis * dry eyes or mouth * myalgia * fevers * skin changes or rash * shortness of breath Additionally, digits should be assessed for ischemia and nailfolds should be examined for atypical blood vessels. If anything is positive, test for autoantibodies.

Question 32

Raynaud's characteristically occurs in the fingers, but may also occur in. . .

Answer 32

. . . the face, specifically the nose and tongue

Question 33

White finger-tip Raynaud's attacks indicate. . .

Answer 33

. . . risk of digital ischemia (digital ischemia itself is associated with pain and whiteness in combination)

Question 34

Blue finger-tip Raynaud's attacks indicate. . .

Answer 34

. . . vasospasm of the thermoregulatory vessels

Question 35

Symptoms of a patient who has primary Raynaud's

Answer 35

* Symmetric phenomenon * Has had symptoms for a long time without complication * No gangrene or digital pitting * No pain upon onset * Negative nailfold examination * Capillaries of fingeritps refill within 15 minutes of re-entering a warm environment

Question 36

limited cutaneous systemic sclerosis

Answer 36

* aka CREST syndrome * **C**alcinosis * **R**aynaud's * **E**sophageal dysmotility * **S**clerodactyly * **T**elangiectasias Associated w/ the anti-centromere antibody

Question 37

Nailfold Capillary Microscopy

Answer 37

A drop of **immersion oil** (or lubricating jelly) is placed on the patient’s skin at the **base of the fingernail**. This area is then viewed using an ophthalmoscope, a dermatoscope, or a stereoscopic microscope **Normal capillaries** appear as **symmetric, non-dilated loops**. In contrast, **distorted, dilated, or absent capillaries suggest a secondary disease process.**

Question 38

Answer 38

Giant capillaries on nailfold microscopy Earliest finding of secondary Raynaud's phenomenon

Question 39

Answer 39

Microhemorrhages on nailfold microscopy Evidence of damaged capillaries

Question 40

Answer 40

Avascular areas (indicated by arrows) on nailfold microscopy Evidence of capillary loss in secondary Raynaud's

Question 41

Answer 41

Neoangiogenesis on nailfold microscopy Evidence of local hypoxia

Question 42

Answer 42

Normal capillaries on nailfold microscopy

Question 43

Differential diagnosis for Raynaud's phenomenon

Answer 43

* Distinguishing primary from secondary RP is critical * Connective tissue diseases most common cause for secondary * Patients should be asked about dry eyes or mouth (Sjögren syndrome) * painful joints or morning stiffness (arthritis) * rashes, photosensitivity, or cardiopulmonary abnormalities (SLE) * skin tightening, respiratory symptoms, or gastrointestinal disease (SSc) * vascular occlusion such as atherosclerosis, emboli, or arterial occlusions should be considered in patients with asymmetric RP * RP in feet is less common and usually warrants a workup

Question 44

Prevention of Raynaud's

Answer 44

* Critical in patients with secondary Raynaud's who are at risk for ulceration or autoamputation * The whole body should be kept as warm as possible, with adequate clothing to protect whenever going into the cold * Even in the summer months, air-conditioning may trigger a RP attac * Emotional stress aggravates RP and increases the temperature threshold, making stress and anxiety management techniques an important form of treatment * ther triggers for vasospasm, such as tobacco use or certain medications, should be avoided * Pharmacologic therapy may be warranted in severe cases (calcium channel-blocking vasodilators are first line)

Question 45

\_\_\_ is associated with the development of diffuse skin involvement in a patient with scleroderma

Answer 45

**Anti-Scl-70** is associated with the development of diffuse skin involvement in a patient with scleroderma

Question 46

Workup for a patient with scleroderma who is found to be anti-RNA Pol III positive

Answer 46

* Pulmonary function test * Urinalysis * CT scan * EKG * Instruct to get a home blood pressure cuff and record pressure weekly

Question 47

"Ground glass" on CT scan

Answer 47

Opacification of the lung fringes, looks like frosted "ground" glass. Indicates inflammation within the small lung sacks. This is an early sign of interstitial lung fibrosis.