Enfermedad de Marfan: revisión clinicoterapéutica y guías de seguimiento

Marfan's disease is provoked by a heterozygotic mutation in the gene codifying fibrillin-1 and is transmitted in an autosomic dominant form. The incidence is 1 out of every 10,000 live births, making it one of the most frequent hereditary connective tissue diseases.

Since Antoine-Bernard-Jean Marfan first described the syndrome in 1986, knowledge of this entity has progressively increased. Affected areas include the eyes, skeletal and cardiovascular systems, the lung, skin and the tissue covering the spinal cord, which have been described in the Ghent criteria, currently the basis for diagnosis.

Diagnosis of Marfan's disease can be difficult because the clinical findings are age-dependent, sometimes leading to difficulties in diagnosing children and young patients. Some of these findings are also frequent in the general population without the disease. Furthermore, the disease has high penetration but there is wide phenotypic variability and substantial overlap with the distinct collagen diseases, hampering differential diagnosis.

In recent years, interest in Marfan's syndrome has grown due to the detection of other diseases with marfanoid phenotype and mutations in the fibrillin-1 gene and the development of aggressive medical and surgical treatment that has radically changed prognosis. Because Marfan's disease is multisystemic, multidisciplinary management is required.