PRIMARY HEMOSTASIS DISORDERS IN HEMATOMESENCHYMAL DYSPLASIA SYNDROME. LITERATURE REVIEW

Abstract

Relevance: Hematomesenchymal dysplasia (HMD), as a background pathology in recurrent clotting disorders, is
reported with a frequency of 54.9% and manifests as combined and concomitant forms in 45.1% of patients, undifferentiated
forms in 22.1%, and differentiated forms in 9.8% as Marfan, Ehlers-Danlos, Whrolick-Lobstein, Franceschetti syndrome, etc.
Hemorrhagic disorders are one of the obligate syndromes of HMD, characterized by an early onset and recurrent course,
and the nosological structure is quite heterogeneous, due to genetic defects in various parts of the hemostatic system.
Angiopathies were detected in 12.3% of patients, thrombocytopathies - 25.5%, Willebrand syndrome (disease) - 11.5%,
hemophilia - 4.3%, their combinations - 45.1%, 1.3% had latent (asymptomatic) defects [24].
Aim: To review the literature on disorders of the primary hemostasis in hematomesenchymal dysplasia.
Search strategy: Sources were searched in the following databases: UpToDate, BMJ, PubMed, Scopus, Wiley, Medline,
The Cochrane Library, Springer Link, Web of Science. The depth of the search was 18 years: from 2004 to 2022. Thirty-one
articles were included in the literature review, which were available in full text and underwent a critical appraisal process.
Algorithm for selecting literary resources → Study of clinical guidelines, monographs reporting the concept of
undifferentiated connective tissue dysplasia, mesenchymal dysplasia syndrome, hematomesenchymal dysplasia, joint
hypermobility syndrome → Review of articles from journals, academic journals, dissertations → Systematization of the
material → Literature analysis and article writing.
Results and conclusions: The problem of hemostasis disorders in HMD is understudied and requires more attention to
cover this narrow field of hematology as variants of the clinical picture is various and the most life-threatening complications
are both profuse bleeding and thrombophilic manifestations [24].