In station 5 you may be asked to assess a patient who presents with easy bruising, falls and recurrent dislocations.
HISTORY (3 minutes)
- Take a history of joint dislocations eg. Frequency, treatment, which joints etc.
- As a child could you do the splits? Do you consider yourself double-jointed?
- Calculate the Beighton score (a total of 9 points is achievable):
- Can you put your hands flat on the floor without bending your knees?
- Can you bend elbow backwards?
- Can you bend knee backwards?
- Can you bend thumb backwards to touch your forearm?
- Can you bend little finger up to 90 degrees?
- Joint pains+stiffness EDS, PXE
- Muscle aches EDS
- Easy bruising EDS
- Bleeding eg. GI tract, elsewhere EDS, PXE
- Stretchy skin/loose plucked skin EDS/PXE
- Poor wound healing with scarring EDS
- Weakness, walking, falls EDS
- Bowels, abdominal pain, hernias EDS
- CVS-CP, SOB, MI etc EDS+OI+Marfans (valve), PXE
- Respiratory EDS+Marfans(pneumothorax)
- Vision eg. myopia, blue sclerae EDS, OI, Marfans, PXE
- Fractures/deformity of bones OI
- Dental problems OI
- Hearing OI
- PMH, FX, Dx, Sx
EXAMINE (3 minutes)
- Beighton score as above
- Skin- hyperextensibility, look for scarring, thin skin, skin folds, loose skin, papules
- Look for bruising, kyphoscoliosis, flat feet, pectus excavatum/carinatum
- Eyes- look for blue sclerae
- Mouth- teeth, high arched palate
- Examine CVS (mitral valve prolapse, aortic root dilatation/aortic regurgitation), Resp (pneumothorax), Abdominal systems (herniae)
- Neurological examination if falls, weakness etc
- Examine the problematic joints
- Measure height and assess for features of Marfans syndrome: arachnodactyly, Steinberg sign, Walker-Murdoch sign
ICE and Explanation (2 minutes)
You could explain the situation as follows:
“There are lots of causes for flexibility but from what you have told me I’d consider a condition called Ehlers-Danlos syndrome. Have you heard of it? An inherited faulty gene causes problems with collagen leading to stretchy skin, loose joints, fragile blood vessels. I will refer you to rheumatologist who specialises in this condition and give you analgesia. In the meantime, avoid contact sports. I’ll refer you to physio for exercises to improve the muscle strength around your joints.”
VIVA
Differential =
- Joint Hypermobility Syndrome
- Ehlers-Danlos Syndrome (EDS)
- Osteogenesis Imperfecta (OI)
- Marfans Syndrome
- Pseudoxanthoma elasticum (PXE)
Management:
Strengthen muscles (physiotherapy)
Splint/bandage to prevent dislocation
Analgesia
Activity modification
Joint Hypermobility Syndrome = Beighton score 4 or more + pains in 4 or more joints for 3 months or longer
EDS:
- 1 in 5000
- 6 types: hypermobility type is the most common
- Inherited connective tissue disorder, AD inheritance usually (can also be AR)
- Skin hyperextensibility, joint hypermobility, tissue fragility
- Abnormal collagen production COL5A1+2, COL3A1, TNXB
- Largely a clinical diagnosis
- Pregnancy can be dangerous- Premature rupture of membranes, postpartum haemorrhage
- Genetic testing and counselling
PXE:
- Could come up in station 5 as bleeding history eg. UGIB, haemoptysis, etc. or chest pain history. You are expected to notice skin folds, plucked appearance
- Hereditary connective tissue disorder- causing fragile calcified vessels which rupture in skin, CVS system, retina. ABCC16p gene. AR inheritance. 1 in 70000
- Angioid streaks on fundoscopy
OI:
- Inherited, mutation COL1A1/1A2. Often AD inheritance. 1 in 20000-50000
- Reduced collagen type 1
- Scleral thinness allows choroid veins to be seen
- Investigations: xrays, dexa, genetic testing, skin biopsy
- Management: PT, OT, bisphosphonates
Marfan Syndrome:
- Joint hypermobility, scoliosis, aortic root dilatation/dissection and heart valve dysfunction (mitral valve prolapse), tall, lens dislocation, pectus excavatum/carinatum, retinal detachment, high arched palate, dural ectasia, pneumothorax
- AD inheritance, mutations in FBN1 gene (fibrillin)
- Revised Ghent nosology for diagnosis
- Opthalmological consultation, CXR, echo, genetic testing
Written by Dr Sarah Kennedy
Resources used for this document include those listed in the references section of this webpage and also:
https://patient.info/doctor/ehlers-danlos-syndrome-pro
https://www.uptodate.com/contents/genetics-clinical-features-and-diagnosis-of-marfan-syndrome-and-related-disorders?source=search_result&search=ehlers%20danlos&selectedTitle=5~99