Suspected Connective Tissue Disease (CTD)
AICTD cover a wide range of autoimmune diseases including:-
- Systemic lupus erythematosus (SLE)
- Raynaud’s phenomenon
- Systemic sclerosis
- Sjogren’s syndrome
- Mixed connective tissue disease (MCTD)
- Undifferentiated connective tissue disease (UCTD)
- Behcet’s syndrome
- Inflammatory myopathies (Polymyositis, Dermatomyositis)
- Primary Vasculitis (Granulomatosis with Polyangitis, Eosinophilic Granulomatosis with Polyangitis, Microscopic Polyangitis, Polyarteritis Nodosa)
Consider referral in patients with 3 or more of any of the following symptoms:
- Evidence of inflammatory arthritis
- Photosensitive rash, malar rash or discoid rash
- Recurrent oral ulceration (excluding aphthous ulcers)
- Serositis (unexplained pleurisy or pericarditis)
- Unexplained neurological symptoms (seizures, psychosis, early onset stroke)
- Scarring alopecia
- Recurrent miscarriage or unexplained thrombosis
- Inflammatory myalgia or proximal muscle weakness
- Unexplained proteinuria or haematuria
- Haematological – leucopenia, lymphopenia, haemolytic anaemia, thrombocytopenia
- Chronic sinusitis
- Constitutional symptoms
- Suspected Sjogren’s syndrome (dry eyes, dry mouth)
- Suspected systemic sclerosis (skin thickening, severe Raynaud’s, digital ulceration, oesophagitis)
Referral to the most appropriate specialty depends on the predominant system involved:-
- Photosensitivity/rash - Dermatology
- Evidence of inflammatory arteritis - Rheumatology
- Proteinuria/haematuria/renal impairment - Renal
Do Not Refer
Patients with a weakly positive ANA (1:80) and no other symptoms or signs
Patients with non-specific widespread musculoskeletal pain and a weakly positive ANA (1:80)
Investigations prior to referral
- Urinalysis and BP
- FBC, U&E, CR, eGFR, LFTs, bone profile, CRP
- ANA (if suspecting SLE, Sjogren’s syndrome or systemic sclerosis)
- Serum complement (if suspecting SLE)
- CK (if suspecting inflammatory myositis)
- Consider ANCA (if vasculitis suspected)
Autoantibody testing (including ANA, ENA and dsDNA) is not a suitable screening test for patients with non-specific, widespread musculoskeletal pain, as positive ANA has been reported in up to 20-30% of healthy individuals. Furthermore, many patients may have systemic autoimmune disease that requires specialist referral, regardless of autoantibody testing results.
A history of clearly demarcated pallor of the digits followed by at least one other colour change (cyanosis and/or erythema) – symptoms precipitated by cold (less often emotion).
Colour change typically starts at the fingertip and then spread proximally and to more digits.
Classical triphasic colour change may not always be present but blanching must occur to diagnose Raynaud’s phenomenon.
Other symptoms may be associated - transient numbness of affected finger tips, paraesthesia on rewarming and discomfort.
Extremities other than the digits may be affected such as the tip of the nose, ear lobes, tongue and nipples.
- Common,10% of the population, females more than males.
- Usual age of onset 20-40 years.
- 90% primary or idiopathic (reversible and no features of secondary Raynaud’s Disease)
- Secondary Raynaud’s can occur in Systemic Sclerosis, Sjogren’s Syndrome, SLE and other autoimmune rheumatic diseases.
Acrocyanosis (continuous blueness of the hands and feet precipitated by cold).
Erythromelalgia (painful red digits caused by paroxysmal dilatation of blood vessels.
Occlusive vascular disease.
Haematological malignancy, cryo-diseases and hyperviscosity syndrome.
Peripheral nerve injury.
Reflex sympathetic dystrophy.
Referral Criteria Raynauds
- Onset over age 40 years.
- Evidence of autoimmune connective tissue disease (Sclerodactyly, digital pitting on fingertips, digital ulceration, severe ischaemia).
- Not responding to primary care treatment (symptoms worsening, severe or unresponsive).
- Episodes that are intense, painful or asymmetrical.
- Abnormal nail-fold capillaries.
Referral to vascular surgeons if unilateral or severe ischaemia of one or more digits.
- Skin and nails for complications of Raynaud’s phenomenon (digital pitting, ulceration and ischaemia)
- Features of AICTD such as systemic sclerosis.
- Abnormal nail-fold capillaries (viewed with a dermatoscope) are suggestive of an AICTD.
- Peripheral pulses and BP in both arms (vascular causes).
- As clinical signs may not be present at the time of examination, asking the patient to take a photograph during an attack can be helpful.
- Livedo reticularis – mottled cyanotic discolouration of the skin (physiological or pathological).
Investigations If Secondary Raynaud’s Suspected:-
FBC, U&E, LFT, eGFR, bone profile.
ANA (ENA, DSDNA if positive).
BP and urinalysis.
- Review precipitating factors –Beta-blockers, smoking, recreational drugs.
- Keep whole body warm + Gloves, heated gloves, hands and foot warming devices.
- Occupational health assessment if vibrating machinery involved.
- Regular moisturising for painful skin fissuring eg diprosalic ointment.
- Calcium channel blockers:
Nifedipine 5mg TDS – 20mg TDS
Modified release Nifedipine 10mg OD – 60mg OD- may be better tolerated
75% adverse effects common (advise) oedema, palpitations, headache, flushing or dizziness
Intermittent prophylactic use may be sufficient
Consider periodically stopping treatment (Primary Raynaud’s phenomenon) as may go into remission.
Other drugs to consider (off license for Raynauds):
SLE/Systemic sclerosis: https://www.dermnetnz.org/cme/systemic/connective-tissue-diseases/
Nailfold dermatoscopy, https://www.racgp.org.au/afp/2015/november/nailfold-dermatoscopy-in-general-practice/
Scleroderma and Raynauds UK, https://www.sruk.co.uk/
Versus Arthritis, https://www.versusarthritis.org/
CKS NICE Raynauds, https://cks.nice.org.uk/topics/raynauds-phenomenon/diagnosis/assessment/
BSR/ BHPR Treating Systemic Sclerosis, https://academic.oup.com/rheumatology/article/55/10/1906/2196591
ACR/EULAR Criteria Systemic Sclerosis 2013,https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3930146/
BSR Guideline SLE 2018,
Dr Tim Jenkinson, Consultant Rheumatologist, RCHT
Dr B Wesson, GP and Kernow RMS Rheumatology Guideline Lead