Clinical analysis of a patient with marfanoid phenotype and diverticular disease

Тhe term "connective tissue dysplasia" (DST) in the territory of the post-Soviet space has become so firmly established in medical practice that many specialists do not seek to verify monogenic syndromes, often hiding behind the usual appearance of the patient "dysplasty". The clinical observation of a patient with signs of DST, who has been observed from a young age by various specialists with pain syndromes, has been operated on three times for abdominal pain syndrome, but no stable positive result has been obtained. Upon examination of a patient with complaints indicating pathology of the digestive system, signs of systemic connective tissue involvement were revealed (7 points in accordance with the Ghent criteria), that is, a marfanoid phenotype was established, in combination with visceral lesions such as transversoptosis, dolichosigma, diverticular disease and diverticulitis, which confirm the presence of hereditary connective tissue disorder (NST). From the OMIM database of hereditary human diseases, it is known that diverticula are characteristic of such NCDs as Marfan syndrome, Ehlers–Danlo syndrome, Coffin–Lowry syndrome, Williams–Behren syndrome, autosomal dominant polycystic kidney disease, between which a differential diagnosis was made. After analyzing all the data, it can be assumed that our patient has Ehlers–Danlo syndrome. It is known that it is a defect in the synthesis of collagen types I or Ⅲ or tenascin X that characterizes progressive intestinal damage in diverticular disease with the possibility of abdominal catastrophes (rupture of the intestine or diverticulitis with peritonitis), therefore, verification of the diagnosis using genetic research is especially important.