DISCUSSION
We described the case of a young African male diagnosed with classical
MFS syndrome using the Ghent 11 nosology. The diagnosis of MFS using
this criterion involves the observation and imaging of distinct
ophthalmologic, musculoskeletal, and cardiovascular abnormalities.
MFS is an autosomal dominant disorder with a mutation in the FBN I gene
resulting in a broad spectrum of phenotypic expressions. Typically, the
condition presents with skeletal, ophthalmologic, and cardiovascular
abnormalities. Due to the varying extent of phenotypic expression and
rate of progression, the time of diagnosis varies and requires a high
index of suspicion especially in the younger age groups.
In a study by Faivre et al, the median age at diagnosis was 6.5 years in
a study that looked at 320 patients less than 18 years of age. In this
study, 14 % had moderate MFS, 14% severe MFS, and 35%, had probable
MFS with skeletal abnormalities, showing up as positive thumb and wrist
signs (83%) and high arched palate (70%) 7
The diagnosis in childhood may be missed since most diagnostic features
are age-dependent hence the Ghent 11 Criterion may have limited
application in this population.
The Ghent 11 nosology for diagnosis among adults includes the detection
of any of the following:
- Aortic root dilatation and ectopia lentis
- Aortic root dilatation and FBN1 mutation
- Aortic root dilatation and systemic abnormalities
- Ectopia lentis and FBN1 defect in a known 2
In LMIC the diagnosis of MFS will most likely be clinical using the
Ghent 11 criterion. This is due to the general
unavailability/inaccessibility of genetic testing to the majority of
patients. There may therefore be a diagnostic challenge in patients who
have features that are not very diagnostic 1. This is
clearly demonstrated in the limited availability of published data in
the age range among people of African descent.
MFS is sporadic in 25% to 30% of patients having no family history.
These patients tend to present with severe manifestations of the disease
and have worse outcomes 8. In this case, neither the
two siblings nor the mother had any typical features of MFS.