LECTURE 5 (Scleroderma) Flashcards
What is Scleroderma?
Also called “Systemic Sclerosis” is an autoimmune disorder characterised by stiff, hardened tissue (sclerosis) developing throughout the body
- Most common demographic is women
- Peak onset is 30-50 years old
- Presents in two clinical syndromes: DIFFUSE & LIMITED (CREST)
What is the pathophysiology of Scleroderma?
- Begins with endothelial cell damage
[trigger is unclear + leads to antibody and cytokine production -> tissue damage] - Result of autoimmune activity is fibroblast activation -> results in excess collagen deposition -> Sclerosis in tissues throughout the body
What is Diffuse Scleroderma?
A subtype of Scleroderma that causes diffuse skin thickening throughout the body
SYMPTOMS:
- Diffuse skin thickening
- Raynaud’s phenomena (vasoconstriction + ischaemia of the hands)
[often initial sign + after 1 year other symptoms will develop]
- Early involvement of visceral organs
[Renal disease: renal failure, GI tract: dysmotility, heartburn, Heart: pericarditis, myocarditis, conduction disease, Joints/muscles: arthralgia, myalgias]
What are the complications of Scleroderma?
- Pulmonary hypertension
[pressure in pulmonary arteries can elevate -> progress to right heart failure; RV heave, elevated jugular veins, pitting edema, patients are routinely monitored with an “echocardiogram” (US picture of heart that can estimate pulmonary pressure)] - Interstitial heart disease
[when fibrous tissue develops inside the lungs] - Scleroderma renal crisis
What is Scleroderma renal crisis?
A life-threatening complication of diffuse scleroderma which usually happens early in the disease
What happens?
Patients will develop an acute worsening of renal function and marked hypertension
TREATMENT:
ACE inhibitors
What is Limited Scleroderma?
Also called “CREST” has limited skin involvement restricted to the hands, distal forearm, face or neck
SYMPTOMS:
- Calcinosis (Ca2+ deposits in subcutaneous tissue forming bumps on elbows, knees and fingers + skin breaks and leaks chalky, white fluid + X-rays show soft tissue calcification)
- Raynaud’s phenomenon (white/blue fingertips + painful on exposure to cold + vasospasm of artery -> ischemia + can lead to fingertip ulcers)
- Esophageal dysmotility (difficulty swallowing resulting from collagen deposition in oesophagus + reflux/heartburn since lower oesophageal sphincter becomes hypotonic/incompetent)
- Sclerodactyly (fibrosis of skin of hands + begins as fingers becoming puffy and hard to bend + later skin becomes thick and shiny + loss of finger wrinkles + severe form becomes like “claws”)
- Telangiectasis (skin lesions that result from dilated capillaries + present on face, hands and mucous membranes)
What are the properties of Limited scleroderma?
- Generally more benign than diffuse since rarely involves heart + kidneys
- Main risk is “pulmonary disease”
[main cause of disease + can develop pulmonary hypertension and interstitial lung disease]
Which antibody tests are used to test for Scleroderma?
- Antinuclear antibody (ANA) = not specific
- Anti-topoisomerase I (anti-scl-70) = elevated in patients with diffuse scleroderma
- Anti-centromere antibody (ACA) = elevated in limited disease
- Anti-RNA Polymerase III = elevated in diffuse disease + associated with rapidly progressive skin involvement + increased risk of developing renal crisis
What is the treatment for Scleroderma?
- Rarely treated with anti-inflammatory drugs
- Treatment aimed at organ system
[GI tract: proton pump inhibitors, Raynaud’s: Ca2+ channel blockers, Pulmonary: pulmonary hypertension drugs] - Rarely treated with immunosuppressants
What is Primary biliary cirrhosis?
A liver condition associated with Scleroderma where there is T-cell destruction of small bile ducts which often presents with jaundice, fatigue and itching
COMPLICATIONS:
- cirrhosis
- liver failure
if left untreated
LAB FINDINGS:
- elevated conjugated bilirubin
- elevated alkaline phosphatase
ASSOCIATED WITH:
- 5-15% of patients have limited scleroderma
- Sjogren’s
- Lupus
- RA
- Hashimoto’s thyroiditis
