Fibrosing Disorders Flashcards
Most frequent symptoms of systemic sclersosis
- Reynaud’s phenomenon
- GERD (with or without dysmotility)
- Skin changes
- Puffy/swolen digits
- Arthralgia
Patients with Raynaud phenomenon and features atypical for primary Raynaud phenomenon should . . .
Patients with Raynaud phenomenon and features atypical for primary Raynaud phenomenon should be evaluated for the possibility of scleroderma or another connective tissue disease
___ makes diagnosis of scleroderma unlikely
Negative antinuclear antibody titers makes diagnosis of scleroderma unlikely
Many patients with limited scleroderma have few ___.
Many patients with limited scleroderma have few observable cutaneous manifestations.
Systemic sclerosis or scleroderma
- 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
Early scleroderma inflammation often manifests as. . .
. . . edema, erythema, and pruritis in the hands
___ leads to excessive skin tightening in scleroderma.
Excessive deposition and crosslinking of collagen leads to excessive skin tightening in scleroderma.
Dry, thickened patches of skin in sclerodermic patients will ___ in 30 to 50% of scleroderma patients.
Dry, thickened patches of skin in sclerodermic patients will ulcer in 30 to 50% of scleroderma patients.
Involvement of the ___ is ubiquitous among patients with scleroderma
Involvement of the vasculature is ubiquitous among patients with scleroderma
Excessive connective tissue thickening and tightening causes ischemia by. . .
. . . physically squeezing and blocking off arteries.
Scleroderma-induced kidney ischemia is referred to as. . .
scleroderma renal crisis
____ is the first manifestation of scleroderma in almost every patient.
Raynaud phenomenon is the first manifestation of scleroderma in almost every patient.
Raynaud phenomenon
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.
Predictive factors for autoimmune disease in patients with Raynaud’s phenomenon
- ANAs
- Abnormal nailfold capillaries (also in dermatomyositis)
- Cases where Raynaud’s is associated with severe pain and vasospasm or signs of tissue damage
Specificity and sensitivity for ANA in scleroderma
- Very sensitive
- Not entirely specific (could be several other rheumatic diseases)
- Facial characteristics of scleroderma. Note:
- The tightening of the skin, especially around the mouth
- Microstomia (small mouth)
- Telangiectasias
Lung disease in scleroderma
- 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
GI concerns of scleroderma patients
- 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
gastroparesis
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
Lower bowel dysmotility
slows the movement of bowel contents severely, allowing bacterial overgrowth, diarrhea, and malabsorption
Renal involvement in scleroderma
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
Cardiac involvement in scleroderma
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.
___ is a common psychological comorbidity of scleroderma.
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
Laboratory testing for scleroderma
- 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
Indirect immunofluorescence test showing presence of anti-centromere antibody
Differential diagnosis for scleroderma
- 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)
Treatment of scleroderma
- 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
Primary Raynaud’s phenomenon
idiopathic and is associated with no identifiable abnormalities in blood vessel architecture
Secondary Raynaud’s phenomenon
patients may have complications of digital tissue ischemia, including recurrent digital ulcerations, rapid deep tissue necrosis, and amputation
Some diseases which may induce a secondary Raynaud’s phenomenon include. . .
- Scleroderma / systemic sclerosis
- Lupus
- Sjorgen’s
- Dermatomyositis
All patients with a history of RP should be asked . . .
. . . 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.
Raynaud’s characteristically occurs in the fingers, but may also occur in. . .
. . . the face, specifically the nose and tongue
White finger-tip Raynaud’s attacks indicate. . .
. . . risk of digital ischemia (digital ischemia itself is associated with pain and whiteness in combination)
Blue finger-tip Raynaud’s attacks indicate. . .
. . . vasospasm of the thermoregulatory vessels
Symptoms of a patient who has primary Raynaud’s
- 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
limited cutaneous systemic sclerosis
- aka CREST syndrome
- Calcinosis
- Raynaud’s
- Esophageal dysmotility
- Sclerodactyly
- Telangiectasias
Associated w/ the anti-centromere antibody
Nailfold Capillary Microscopy
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.
Giant capillaries on nailfold microscopy
Earliest finding of secondary Raynaud’s phenomenon
Microhemorrhages on nailfold microscopy
Evidence of damaged capillaries
Avascular areas (indicated by arrows) on nailfold microscopy
Evidence of capillary loss in secondary Raynaud’s
Neoangiogenesis on nailfold microscopy
Evidence of local hypoxia
Normal capillaries on nailfold microscopy
Differential diagnosis for Raynaud’s phenomenon
- 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
Prevention of Raynaud’s
- 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)
___ is associated with the development of diffuse skin involvement in a patient with scleroderma
Anti-Scl-70 is associated with the development of diffuse skin involvement in a patient with scleroderma
Workup for a patient with scleroderma who is found to be anti-RNA Pol III positive
- Pulmonary function test
- Urinalysis
- CT scan
- EKG
- Instruct to get a home blood pressure cuff and record pressure weekly
“Ground glass” on CT scan
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.
