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Marfan Syndrome P005

Document
Last amended 
30 June 2015
Current RMA Instruments:
Reasonable Hypothesis SOP
25 of 2015
Balance of Probabilities SOP
26 of 2015
Changes from Previous Instruments:

SOP Bulletin 179

ICD Coding:
  • ICD-9-CM Codes: 759.82
  • ICD-10-AM Codes: Q87.4

This is a genetic disorder affecting normal connective tissue in the body, with particular manifestations in the eye (dislocated lens), aorta at its root, heart and skeleton. Other manifestations include cardiac problems, scoliosis, kyphosis, hip acetabular protrusion and joint laxity.

Is specific diagnostic evidence required to apply the SOP? - Yes

This diagnosis requires an opinion froma specialist physician with recoure to echocardiaography, and genetic testing.

Are there sub-factors that require specific information? - No

The only factors are for clinical worsening from pregrnancy and inability to obtain appropriate clinical management. It is difficult to ascertain that there is clinical worsening in a progrssive disorder such as this. See notes below.

Additional diagnoses covered by SOP
  • Nil
Unconfirmed diagnosis

If, after applying the above information, you are unable to confirm the diagnosis, you should then seek medical officer advice about further investigation.

Notes on diagnosis and clinical worsening

The diagnosis of Marfan’s disease is confounded by the different clinical diagnostic criteria and hence in the past Marfan’s disease has been over diagnosed. (1)

The 2010 Revised Ghent criteria are currently in force:

In the absence of family history of MFS, the presence of one of any of the following criteria is diagnostic for MFS:

  • Aortic criterion (aortic diameter Z =2 or aortic root dissection) and ectopia lentis.
  • Aortic criterion (aortic diameter Z =2 or aortic root dissection) and a causal FBN1 mutation as defined above
  • Aortic criterion (aortic diameter Z =2 or aortic root dissection) and a systemic score =7.
  • Ectopia lentis and a causal FBN1 mutation as defined above that has been identified in an individual with aortic aneurysm

In the presence of family history of MFS (as defined by the above criteria), the presence of one of any of the following criteria is diagnostic for MFS:

  • Ectopia lentis
  • Systemic score =7 points.
  • Aortic criterion (aortic diameter Z =2 above 20 years old, Z =3 below 20 years, or aortic root dissection).

Systemic score —

  • Wrist AND thumb sign: 3 points (wrist OR thumb sign: 1 point)
  • Pectus carinatum deformity: 2 (pectus excavatum or chest asymmetry: 1 point)
  • Hindfoot deformity: 2 points (plain pes planus:1 point)
  • Pneumothorax: 2 points
  • Dural ectasia: 2 points
  • Protrusio acetabuli: 2 points
  • Reduced upper segment/lower segment ratio AND increased arm span/height AND no severe scoliosis: 1 point
  • Scoliosis or thoracolumbar kyphosis: 1 point
  • Reduced elbow extension (=170 degrees with full extension): 1 point
  • Facial features (at least three of the following five features: dolichocephaly [reduced cephalic index or head width/length ratio], enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia): 1 point.
  • Skin striae: 1 point
  • Myopia >3 diopters: 1 point
  • Mitral valve prolapse (all types): 1 point.

Worsening beyond the normal progression of the disease needs to be evident before a clinical worsening factor can be considered.

There is a wide range of clinical severity associated with Marfan’s syndrome.

There is no specific treatment for Marfan’s syndrome, but the manifestations of Marfan’s syndrome such as the cardiac dilatation/dissection and eye dislocation need to be monitored and appropriately treated. (2)

Footnotes:

(1) Wright, M. and Connolly, H. 2014, ‘Genetics, clinical features, and diagnosis of Marfan syndrome and related disorder’, UpToDate, http://www.uptodate.com/contents/genetics-clinical...

(2) Wright, M. and Connolly, H. 2014, ‘Management of Marfan’s syndrome and related disorders’, UpToDate, http://www.uptodate.com/contents/management-of-mar...