Sometimes a person may have one or more features of Marfan syndrome, but not have enough features to meet the diagnostic criteria for Marfan syndrome.
“Differential diagnosis” is the process of weighing the probability of one disease or disorder versus that of other diseases or disorders possibly accounting for a patient's illness or symptoms.
People may have disorders related to Marfan syndrome, such as other connective tissue disorders or metabolic disorders that closely resemble Marfan syndrome. A doctor will likely consider several conditions in the differential diagnosis to determine the actual diagnosis.
Regardless of the diagnosis, it is important to follow recommended treatments for the particular symptoms that do exist to make sure further problems do not result. For example, a person may not have enough features to be diagnosed with Marfan syndrome, but can still have an enlarged aorta. In this case, the aorta should still be monitored at regular intervals even though there is no Marfan diagnosis.
If the condition is hereditary, ensure proper evaluation of other family members who may be at risk.
Following is a list of some related disorders and their relation to Marfan syndrome:
| Marfan Related Disorders |
Condition |
Symptom Overlap with Marfan Syndrome |
Mutation in Fibrillin-1 Gene? |
|
Loeys-Dietz Syndrome
|
Aortic enlargement and dissection. Variable skeletal findings
|
No
(TGFBR 1/2 mutation)
|
| Familial Aortic Aneurysm |
Aortic enlargement and dissection. Variable skeletal findings |
Generally not |
| Bicuspid Aortic Valve with Aortic Dilation |
Aortic enlargement and/or dissection |
Unknown |
| Familial Ectopia Lentis (Dislocated Lens) |
Eye lens dislocation
Common skeletal findings |
Yes |
| MASS phenotype, Mitral Valve Prolapse, Myopia |
Borderline aortic enlargement
Skin and skeletal findings |
At least sometimes |
| Marfanoid Habitus (Marfan Body Type) |
Skeletal findings |
At least sometimes |
| Mitral Valve Prolapse Syndrome |
Mitral valve prolapse
Variable skeletal findings |
At least sometimes |
| Congenital Contractural Arachnodactyly (CCA or Beals syndrome) |
Mitral valve prolapse
Variable skeletal findings |
No (FBN-2 mutation) |
| Stickler Syndrome |
Myopia Retinal detachment
Joint hypermobility or contracture
Scoliosis
Mitral Valve Prolapse |
No (Collagen genes
mutation) |
| Shprintzen-Goldberg Syndrome |
Aortic enlargement
Skin and skeletal findings |
Rare |
| Ehlers-Danlos Syndrome |
Skin and skeletal findings
Aortic enlargement/dissection in selected types only |
No (Collagen gene mutation) |
| Homocystinuria |
Mitral Valve Prolapse
Eye lens dislocation
Skin and skeletal findings |
No (metabolic disorder) |
Additional information about some related disorders can be found by clicking the menu to the left.
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