Scleroderma Flashcards
Systemic sclerosis risk factors? (5)
FH of SSc***
Silica exposure***
Others are debatable.
Occupational exposure: chemical production, disposal, paint, plastics - suggestive of PVC or Organic solvents.
Bleomycin (EMS: eosinophilic myalgia syndrome)
Difference between limited vs diffuse cutaneous SSc?
Limited: distal extremities + face (CREST is a subset of lcSSc). No organ involvement except for oesophagus.
Diffuse: skin involvement proximal to elbows/knees.
Systemic sclerosis - prognosis?
5y survival only 70%
Systemic sclerosis - symptoms? (categorize…)
Start with CREST then Systemic.
CREST
- Calcinosis (white/yellow pimple-like bumps/nodules on the skin, sometimes have a hole and leak white materials)
- Raynauds (fingers turning blue/painful/numb)
- Esophageal dysmotility (dysphagia, heartburn, reflux) + other GI (diarrhea/malabsorption, jaundice, pruritis)
- Sclerodactyly (shiny - skin tightening/hardening → restricted movement/function)
- Telangiectasia: “spider-like veins” “thread-like red lines” on your skin
Systemic
Arthritis +/- Carpal tunnel syndrome
Cardiac: DCM, pericarditis
Lung: pulmonary fibrosis, pulmonary HTN?
GI: diarrhoea, malabsorption, jaundice, pruritis (liver Ca)
Renal: HTN, CKD, SRC
GU: erectile dysfunction
Cutaneous: sclerodactyly (hardening/tightening of the skin - often shiny), restricted movement due to this. Raynauds (fingers turning blue/painful/numb). Calcium deposits
What are the DDx for Scleroderma? (4)
Nephrogenic systemic Fibrosis (from gadolinium in dialysis patients)
Diabetic stiff hand syndrome (thickened skin with limited joint mobility)
Morphea (localised scleroderma)
Eosinophilic fasciitis.
Major complications associated with limited (1) vs diffuse SSc (2)?
Limited: 6x more likely to develop PAH (pulmonary HTN)
Diffuse: ILD and Scleroderma Renal Crisis
Systemic Sclerosis: PRICMCP?
P: CREST + Systemic symptoms (Joint, CVS, Lung, GI, renal, impotence)
R: FH, Sillica, Occupational exposures (organic solvents, PVC), Bleomycin.
I: serology + relevant system exam - TTE, PFT, HRCT “I suspect the diagnosis was established by combination of clinical features, specific Ab testing and imagings”.
C: extracutaneous features. Most important - pulmonary HTN, ILD and SRC (acute renal failure following steroids)
M: (focus on pharm) for Raynauds, PAH, SRC.
Topical nitrates (Raynauds), CCB (Raynauds/PAH), PPI (E), ILD tx, Warfarin, pulmonary HTN medications (e.g. Sildenafil, Bosentan), ACEi (SRC)
C: how is it impacting patient’s work, life, ADLs? Current ET? What is the most pressing issue?
P: understanding of prognosis, inghts into disease.
Markers of poor prognosis? (3)
Male sex
Late-onset disease
Diffuse as opposed to limited SSc
What investigations would you like to review for this patient with Systemic Sclerosis?
T: Anti-Scl70 (diffuse, only seen in minority), Anti-centromere (CREST - 70%), RhF (25%), Hyper-gammaglobulinaemia (IgG in particular, 50%). RNApol (SRC). Nailfold Capillaroscopy (dilated looks, areas of drop outs)
Exclude: reversible pathologies - e.g. hypovolaemia, renal obstruction and infections
Severity: ESR, inflammatory markers, EUC (renal failure)
Screen complications: FBC (ACD), EUC/Haemolytic screen (SRC), B12, folate, iron studies (malabsorption/bleeding). Hand XR (calcinosis), CXR (fibrosis)/HRCT (look for NSIP. UIP poor prognosis. HRCT is the most powerful predictor of mortality), PFT (restrictive pattern, reduced DLCO <50% - poor prognosis, a/w pHTN), ECG (conduction disease), TTE (raised PAP), RHC (PAP >25mmHg at rest + PCWP <18), 6MWT. If dysphagic, Gastroscopy.
Systemic Sclerosis - Examination?
Bird-like facies, Malnourished, Anaemic
Hands: calcinosis, Raynauds, Sclerodactyly, Tenangiectasia, small joint arthropathy, hand function***
Arms: sclerodactyly extent, BP (HTN in renal involvement)
Head: Sicca (Sjogren’s), dry mouth with difficulty opening up, telangiectasia
Patient can swallow
CVS: tight skin on the chest, pulmonary HTN, arrhythmia, heart failure
Lung: ILD, any infection
Legs: vasculitis, skin lesions, small joint arthropathy
Ask for: temp, urine, full-body exam for skin Ca.
What is your approach to managing this patient with Systemic Sclerosis?
Goal: minimise symptoms, improve function, early detection & management of complications.
Confirm Dx: Symptoms + specific Abs + letters
A: screen & treat associated depression and other reversible causes like infection, SIBO***, hypovolaemia, obstructive uropathy
Screen & investigate for complications: most importantly, malnutrition, renal failure, pulmonary fibrosis, PAH, Gastroscopy if iron deficient. So EUC, B12, folate, CXR/CT, TTE/RHC.
T: go system based approach
- Raynauds: Keep hands warm, gloves, smoking cessation (vasospasm), digital sympathectomy to safe digits. CCB, BB, prazocin, methydopa, topical nitrates, PG/prostacyclin infusions
- Skin disease: Physiotherapy for ROM in hands. D-penacillamine (interferes with collagen cross-linking but prob ineffective). Some evidence for SCT, Cyclophosphamide, MMF, MTX but all weak.
- GI: life-style modification (elevate head, wait 2-3h before bed), dietician, PPI (**prevents oesophageal stricture), Prokinetics, laxatives for constipation. FACIAL EXERCISE to keep the oral apeture.
- Renal: ACEi
- Arthralgia: pain relief, NSAIDs, add Hydroxychloroquine
- CV: non-pharm + pharm Mx of HF
- ILD: pulmonary rehab, Cyclophosphamide (if FVC <70%, extent of disease >20% in HRCT)
- PAH: warfarin, CCB, ER antagonists, Sildenafil, PG/Prostacyclin infusions
- Pericarditis - steroids
Involve dietician, PT to address malnutrition and maximise function. Offer continued support.
Ensure F/U and continue to screen for complications as above. If on Penicillamine - monthly FBC
Side effects of D-penicillamine? (3)
GN + Nephrotic syndrome
Myasthenia gravis
BM suppression (aplastic anaemia, leukopaenia, thrombocytopaenia)
When would you suspected PAH in SSc?
When DLCO <50%
PAP on TTE >50
Requires RHC.
