Syndromes Flashcards
What are the features of FIBROMYALGIA?
Widespread pain throughout the body with tender points at:
- Occiput
- Low cervical
- Trapezius
- Second rib
- Supraspinatus
- Lateral epicondyle
- Gluteal
- Greater trochanter
- Knee
Features include:
- Chronic pain, sometimes ‘all over’
- Lethargy
- Cognitive impairment ‘fibro fog’
- Sleep disturbance, headaches, dizziness
What is the management of FIBROMYALGIA?
- Explanation of symptoms
- Aerobic exercise (strongest evidence base)
- CBT
- Medication: Pregabalin, duloxetine, amitriptyline
What are the features of ANTIPHOSPHOLIPID SYNDROME?
- Recurrent venous/arterial thrombosis
- Recurrent foetal loss
- Mottled skin (Livedo reticularis)
- Thrombocytopaenia
- Prolonged APTT (due to interaction with SLE antibodies)
- Pre-eclampsia
- Pulmonary hypertension
What is the management of ANTIPHOSPHOLIPID SYNDROME?
- Primary thromboprophylaxis (low-dose aspirin)
- Secondary thromboprophylaxis (long-life warfarin with a target INR of 2-3)
What is ANTISYNTHETASE SYNDROME?
Antibodies against anti-Jo1. Leads to:
- Myositis
- Interstitial lung disease
- ‘Mechanic’s hands’ (thickened and cracked skin on hands)
- Raynaud’s phenomenon
What is BEHCET’S SYNDROME?
Autoimmune-mediated inflammation of the arteries and veins. Classic triad:
- Oral ulcers
- Genital ulcers
- Anterior uveitis
Also includes:
- Thrombophlebitis/DVT
- Arthritis
- Neurological involvement (aseptic meningitis)
- GI: Abdo pain, diarrhoea
- Erythema nodosum
What are the features of POLYMYALGIA RHEUMATICA?
- Patient >60y
- Usually rapid onset (~ 1 month)
- Aching, morning stiffness on proximal limb muscles (NOT weakness)
- Mild polyarthralgia, lethargy, depression, low grade fever, anorexia, night sweats
Investigate through raised inflammatory markers, but normal CK and EMG
Treat with prednisolone (usually good response)
What are the ACR criteria for SLE?
- Malar Rash
- Discoid Rash
- Serositis;pleuritis;pericarditis
- Oral ulcers; usually painless
- Arthritis (non-erosive)
- Photosensitivity
- Blood Disorders: Low WBC, Lymphs, Haemolytic anaemia
- Renal Disease; proteinuria, RBC casts
- High titres of Anti-Nuclear antibody
- Immunologic: +Anti-DS DNA
- Neurologic: seizure or psychosis
What are the investigations for SLE?
Antibodies: \+ve ANA (low specificity) ~20% +ve RF \+ve Anti-dsDNA \+ve anti-Smith
Monitoring:
- Inflammatory markers (ESR)
- Low complement levels during active disease
- anti-dsDNA titres
What are the features of TEMPORAL ARTERITIS?
Large vessel vasculitis overlapping with polymyalgia rheumatica (PMR)
Features: Rapid onset ( <1month), headache, jaw claudication, visual disturbances, palpable temporal artery
What is the treatment for TEMPORAL ARTERITIS?
- Raised inflammatory markers
- Note CK and EMG are normal
- Temporal artery biopsy (skip lesions)
Treatment:
- High dose prednisolone
- Urgent ophthalmology review
What is STILL’S DISEASE in adults?
- Arthralgia
- Elevated serum ferritin
- Salmon-pink, maculopapular rash
- Pyrexia (rising in the late afternoon)
- Lymphadenopathy
- RF/Anti-nuclear body negative
Managed with NSAIDs or steroids
If persistent, use of methotrexate, IL-1 or anti-TNF therapy can be considered
What are the features of EHLER-DANLOS Syndrome?
An autosomal dominant connective tissue disorder - affects type III Collagen.
Features:
- Elastic, fragile skin
- Joint hypermobility
- Easy bruising
- Aortic regurgitation, mitral valve prolapse, aortic dissection
- Subarachnoid haemorrhage
- Angioid retinal streaks
What are the features of MARFAN’S SYNDROME?
- Tall stature and long arms
- High-arched palate
- Arachnodactyly
- Pectus excavatum
- Heart conditions: aortic sinus dilation = aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse
- Lungs: repeated pneumothoraces
- Eyes: upward lens dislocation, myopia
What are the features of MCARDLE’S DISEASE?
Caused by a myophosphorylase deficiency, causing decreased muscle glycogenolysis
- Muscle pain and stiffness after exercise
- Muscle cramps
- Myoglobinuria
- Low lactate levels during exercise
What is POLYARTERITIS NODOSA?
A vasculitis affecting medium-sized arteries - with necrotising inflammation leading to aneurysm formation.
Associated with Hepatitis B infection
Features:
- Fever, malaise
- Weight loss
- HTN
- Polyneuropathy
- Testicular pain
- Haematuria/renal failure
What is SJOGREN’S SYNDROME?
An autoimmune disorder affecting exocrine glands = dry mucosal surfaces.
- Dry eyes, mouth, vagina etc.
- Arthralgia
- Raynaud’s
- Sensory polyneuropathy
Managed with artificial saliva and tears
What is SYSTEMIC SCLEROSIS?
Hardened, sclerotic skin and other connective tissues
Affects trunk and proximal limbs predominately. Death includes ILD, renal disease and hypertension.
ACE-inhibitors can reduce the risk of renal crises and can be used to rapidly lower blood pressure and given regularly to maintain blood pressure
What is SAPHO Syndrome?
Combination of: Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis. Associated with pain, swelling and tenderness in affected areas.
Treated with NSAIDs, anti-rheumatic drugs (colchicine, corticosteroids, bisphosphonates) and disease modifying drugs (methotrexate, sulfasalazine, infliximab)
What is CREST Syndrome?
Calcinosis (calcium deposits in skin), Raynaud’s phenomenon, oesophageal dysfunction, sclerodactyly, and telangiectasias
