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)
CXR
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.

Raynaud’s Phenomenon

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.

Differential Diagnosis

Chilblains (Perniosis).

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.

Vasculitis.

Haematological malignancy, cryo-diseases and hyperviscosity syndrome.

Peripheral nerve injury.

Reflex sympathetic dystrophy.

Referral Criteria Raynauds

Male.
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.

Red flags

Referral to vascular surgeons if unilateral or severe ischaemia of one or more digits.

Examination

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.

CRP.

ANA (ENA, DSDNA if positive).

BP and urinalysis.

Management