How can We Diagnose Marfan Syndrome?
Diagnosis of Marfan syndrome is based on Ghent nosology.
A team of doctors that includes geneticist, eye specialist, heart specialist, skin specialist and bone specialist are required to thoroughly assess the signs and symptoms of the disease in order to arrive at an accurate diagnosis.
Diagnosis of Marfan syndrome is based on some diagnostic criteria referred to as the Ghent nosology. This classification divides the features of Marfan syndrome into ‘‘major criteria’’, ‘‘minor criteria’’, ‘‘organ involvement’’, and manifestations that only in combination with other manifestations constitute a ‘‘major’’ or ‘‘minor’’ criterion.
To diagnose a case of Marfan syndrome that is not inherited, the patient should fulfill major criteria in two organ systems with involvement of the third system. In case the condition runs in the family or in patients with a mutation in the FBN1 gene, the presence of one major criterion in the family and one organ system of the patient, with the involvement of the second organ system is enough for the diagnosis of Marfan syndrome.
