SCREENING FOR MARFAN SYNDROME IN GHANA
The reporting of diagnosed cases of MFS on the continent has been low. The factors that fuel this pattern are likely multifaceted and may include low detection rates, varying severities in disease expression making the recognition difficult and the largely inaccessible means of genetic testing should the need for that in diagnosis be required.
There is no single laboratory test that completely makes the diagnosis of MFS, and other conditions also have the mutation in the FBN 1 gene. The diagnosis therefore requires a thorough physical examination, a family history of the condition and investigations that assess the possible involved organ systems 32.
In Ghana, the detection of the clinical features may be the most reliable means of screening for MFS. A high index of suspicion by a well-trained clinician will help initiate further testing in order to make the diagnosis. This is an inexpensive means of initial detection of MFS but will probably be most effective in patients who have florid phenotypic features. By default, the use of this means alone excludes detection in neonates and children in whom these may be obscure.
Assessment of the extent of organ system involvement in MFS is another crucial part of diagnosis and another potentially significant limitation in Ghana. Cardiovascular involvement requires the use of echocardiography and possibly CT scanning to not only detect but to continually monitor patients and diagnose life-threatening complications such as aortic dissection, should they occur. Across Ghana, these services are limited to a few large cities and so in most instances geographically, and very often financially inaccessible to patients.
Trained cardiologists, ophthalmologists, orthopaedic surgeons, and various other specialities who form part of the multi-disciplinary team needed to care for the patient with MFS, are inadequate in number and found in only a few specialized centres.
The need for genetically detected FBNI gene, by the Ghent nosology, is limited to special situations and therefore not mandatory in all cases of MFS. Even though genetic testing is less available than diagnostic tests in Ghana, it should not be a limitation in the detection of MFS especially in patients with a typical phenotypic appearance and in whom some further evaluation can lead to a diagnosis.