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Approach to Multi-System Rheumatic disease

Many rheumatic diseases in children affect multiple organs as they often involve the joints, muscles and connective tissues. These can be inflammatory or non-inflammatory in nature. Whilst the majority of these inflammatory diseases are autoimmune in origin which involve mainly the adaptive immune system (e.g. Systemic vasculitis, Juvenile SLE, juvenile Dermatomyositis), there are also many rarer autoinflammatory diseases involving the innate immune system e.g. Familial Mediterranean Fever (FMF).

Although most rheumatic diseases affect multiple organs, they can sometimes present with symptoms predominantly affecting a single organ system e.g. the kidneys, gastrointestinal tract, lungs and eyes. A child with SLE may present with just nephrotic syndrome or a child with JIA may present with uveitis as the initial presentation. Pulmonary haemorrhage may be the first sign of an ANCA vasculitis.

When to suspect rheumatic diseases

Prolonged or intermittent fever in the absence of infection or malignancy. The fever pattern can sometimes be a clue e.g. A quotidian pattern in systemic JIA.
Presence of rash with joint pains. Rash can be varied in the many conditions and special care to seek out the rash especially at hairline, behind the ears, umbilicus (for psoriasis), evanescent rash (especially on inner thighs and trunk) in systemic JIA.
Persistently elevated inflammatory markers especially ESR. Note that elevations in ESR / CRP are non-specific and does not diagnose an autoimmune condition. A high ESR with a normal C-reactive protein supports diagnosis of JSLE.
Presence of autoantibodies e.g. ANA especially when present in high titres. Caution that ANA can also be present in healthy children and also other conditions like infection and malignancy. Interpretation of ANA in addition requires careful considering of clinical context. Some autoantibodies associate with multi-system rheumatic disease and can be useful for diagnosis and monitoring.
Resources to demonstrate mucocutaneous features of multisystem diseases are available.

A Diagnostic approach: A detailed history and meticulous examination seeking out involvement of all organs should be performed. Further investigations can be performed depending on the suspected diagnosis; infection and malignancy need to be excluded.

System	Symptom	Sign	Investigation
General	Fever, loss of appetite, loss of weight, fatigue	High temperature, thin/cachexic, loss of muscle bulk or fat, lethargic	FBC, ESR, CRP Renal profile Liver function ANA, C3/C4
Skin and Mucous membranes	Rash, hair loss, mouth ulcers	Various rashes alopecia (scarring or non scarring) ulcers (mouth/palate/nasal)	Skin biopsy including immunofluorescence
Heart and blood vessels	Chest pain, palpitations, shortness of breath, decrease effort tolerance	Cardiomegaly, murmurs, gallop rhythm, pericardial rub, irregular pulse, absent/reduced pulses, bruits	ECG, ECHO US Doppler medium/large vessels Arteriogram (CTAngio or MRAngio)
Lungs	Cough, haemoptysis, shortness of breath, reduced effort tolerance, noisy breathing e.g. stridor, wheezing, Hoarse or soft voice	Pallor, clubbing, tachypnoea, increased work of breathing (e.g. recessions) stridor/ wheezing, lung crepitations, low saturation or cyanosis	CXR HRCT (for lung disease) CT thorax CT PA (if suspect pulmonary embolism) ANCA (if suspect vasculitis)
Gastrointestinal	Abdominal pain, nausea, vomiting, diarrhoea, bloody stools, rectal bleeding	Abdominal distension, tenderness, masses, ascites, pancreatitis, hepatomegaly, splenomegaly, bowel perforation, perianal skin tags	Abdomen XR US abdomen Stool occult blood CT abdomen Endoscopy Colonoscopy
Kidneys	Swelling of eyes, face or feet, reduced urine output, frothy urine, blood in urine	Periorbital / facial or ankle oedema, hypertension, Ascites, sacral oedema, anasarca	Anti-ds DNA Ab Anti GBM Ab Renal function 24 hour urine protein Renal biopsy
Joints	Joint pain, early morning stiffness, gelling, joint swelling, loss of/ impaired function, limping, regression of milestones	Joint swelling, tenderness, restriction of joint movement	Xray Ultrasound MRI or CT scan
Muscles	Muscle pain / aches, weakness of limbs, Difficulty to get up from floor or climb stairs	Muscle tenderness Muscle swelling Muscle weakness (note distribution and involvement – proximal, distal, neck and abdomen)	Muscle enzymes Ultrasound MRI Muscle biopsy EMG
Brain	Headache, giddiness, seizures, stroke, deteriorating school performance, drowsy, delirium Psychiatric features	Impaired conscious level, focal neurological signs, hypertonia/ hyperreflexia	CT scan MRI
Nerves	Numbness or tingling of extremities, weakness of limbs, facial asymmetry, squint	Signs of peripheral neuropathy or mononeuritis multiplex, cranial nerve palsies	Nerve conduction tests MRI spinal cord
Eyes	Blurred vision, eye pain, eye redness, eye protrusion	Conjunctival redness, irregular pupils, paralytic squint, proptosis, optic disc swelling, cotton wool spots, fundal haemorrhages, uveitis	Slit lamp examination Retinal scans Vision tests CT scan/MRI
Blood	Conjunctiva pale or yellow, bruises, purpuric rash, symptoms of thrombosis (ischaemic or infarction)	Pallor, jaundice, purpura, petechiae, bleeding gums hepatosplenomegaly, lymphadenopathy, bleeding tendencies, signs of venous or arterial thrombosis,	Full blood picture Direct Coombs test Bone Marrow aspirate and trephine Coagulation profile Thrombophilia profile
Thyroid	Symptoms of hypothyroidism or hyperthyroidism	Palpable thyroid gland	Thyroid function test Thyroid autoantibodies

Approach to Multi-System Rheumatic disease

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