Systemic Sclerosis Flashcards
Define systemic sclerosis [1]
Systemic sclerosis is an autoimmune connective tissue disease involving inflammation and fibrosis (hardening or scarring) of the connective tissues, skin and internal organs. The cause is unclear.
SSc is classified into two main subtypes: limited cutaneous systemic sclerosis (lcSSc) and diffuse cutaneous systemic sclerosis (dcSSc), which differ in the extent of skin involvement and the pattern of internal organ involvement.
AKA scleroderma
LcSSc is defined by which features? [5]
C– Calcinosis
R – Raynaud’s phenomenon
E – oEsophageal dysmotility
S – Sclerodactyly
T – Telangiectasia
DcSSc has which clinical features?
Includes CREST AND:
Skin:
- Thickening, tightening (Sclerodactyly), and hardening (scleroderma) of the skin, which typically starts in the fingers and progresses proximally
- Calcinosis.
Raynaud’s phenomenon:
- Vasospasm-induced color changes (pallor, cyanosis, and erythema) in the fingers and toes in response to cold or stress.
Gastrointestinal involvement:
- Dysphagia, gastroesophageal reflux, and motility disorders affecting the esophagus, stomach, and intestines.
Pulmonary involvement:
- Interstitial lung disease (ILD) and pulmonary arterial hypertension (PAH) are common complications, which can cause shortness of breath, cough, and chest pain.
Renal involvement:
- Scleroderma renal crisis, characterized by rapidly progressive renal failure and malignant hypertension, is a life-threatening complication of SSc.
Musculoskeletal involvement:
- Joint pain, stiffness, and contractures due to fibrosis of the joint capsules and tendons.
Describe the colour changes in Raynaud’s [3]
Raynaud’s phenomenon is where the fingertips change colour in response to even mildly cold triggers (e.g., opening the fridge). It is caused by vasoconstriction of the vessels supplying the fingers. The typical pattern is:
First white, due to vasoconstriction
Then blue, due to cyanosis
Then red, due to reperfusion and hyperaemia
Describe what is meant by nailfold capillaroscopy [2]
How do you use this investigation to assess SS? [1]
Nailfold capillaroscopy
- is a technique to magnify and examine the peripheral capillaries where the skin meets the base of the fingernail (the nail fold).
- Abnormal capillaries, avascular areas and micro-haemorrhages suggest systemic sclerosis
- Patients with Raynaud’s disease (without systemic sclerosis) have normal nailfold capillaries.
Which antibodies are associated with SS? [3]
Serology:
* Antinuclear antibodies (ANA) are positive in most patients with systemic sclerosis. They are non-specific.
* anti-scl-70 antibodies associated with diffuse cutaneous systemic sclerosis
* anti-centromere antibodies associated with limited cutaneous systemic sclerosis
Describe the management of SSc
Treatment focuses on symptom management
Vasodilator therapy - especially for Raynaud’s
- Nifedipine
- phosphodiesterase-5 inhibitors
- prostacyclin analogues
Pulmonary HTN:
- Sildenafil
- bosentan (endothelin receptor antagonists)
Digital Ulcers:
- Intravenous iloprost
- bosentan
Gastrointestinal management:
- PPIs
- Prokinetics - metoclopramide
Renal management
- ACEIs is crucial in the management of scleroderma renal crisis.
Immunosuppressive therapy:
- Corticosteroids, methotrexate, mycophenolate mofetil, and cyclophosphamide can be used to reduce inflammation
What are the leading causes of mortality in SSc?
Pulmonary Disease: ILD and PAH are the leading causes of death in SSc. Early detection and intervention can improve outcomes.
* Interstitial Lung Disease (ILD): Often occurs in dcSSc. Progressive fibrosis can lead to respiratory failure.
* Pulmonary Arterial Hypertension (PAH): More common in lcSSc. It carries a high mortality risk, especially if not detected and treated early.
Scleroderma Renal Crisis:
* Characterised by sudden-onset hypertension and renal impairment
Antibodies:
* [] is associated with ILD
* [] are associated with PAH.
- Anti-Scl-70 (anti-topoisomerase I) is associated with ILD
- anti-centromere antibodies are associated with PAH.
ANA
ANA
anti-scl-70 antibodies
Anti-centromere antibodies
a middle-aged woman with a history of Raynaud’s phenomenon complains of dysphagia. She is noted to have multiple telangectasia on examination
Which drugs do you use to tx the arthritis in SSc? [1]
Methotrexate
