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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

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