Characterization of Type-III Ehlers–Danlos Syndrome

Authors

  • Mirta Caridad Campo Díaz Especialista de Segundo Grado en Hematología y Pediatría. Profesora Auxiliar y Consultante. Investigadora Auxiliar. Máster en Atención Integral al Niño. Hospital Provincial Pediátrico Docente “Pepe Portilla”. Pinar del Río.
  • Abel Fortún Campo Especialista de Primer Grado en Medicina General Integral y Oftalmología. Diplomado en neuro-oftalmología. Instructor. Máster en Longevidad Satisfactoria. Hospital General Docente “Abel Santamaría”. Pinar del Río.
  • Aimara Beades Martínez Especialista de Primer Grado en Medicina General Integral y Oftalmología. Máster en Longevidad Satisfactoria. Hospital General Docente “Abel Santamaría”. Pinar del Río.
  • Yumnary Gato Santiesteban Especialista de Primer Grado en Medicina General Integral y Hematología. Instructora. Hospital Pediátrico Docente “Pepe Portilla”. Pinar del Río.
  • César Valdés Sojo Especialista de Primer Grado en Hematología. Pinar del Río.Hospital Pediátrico Docente “Pepe Portilla”. Pinar del Río.

Keywords:

Type-III Ehlers–Danlos Syndrome, Blood coagulation disorders.

Abstract

Introduction: Ehlers–Danlos Syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders, caused by mutations in the genes that codify fibrillar collagen or the enzymes implicated in modifying post-translational collagen that affects skin, joints and blood vessels. Frequently, the clinical picture presents articular hypermobility with hyperextension associated with cutaneous anomalies. Objective: to characterize Type-III Ehlers–Danlos Syndrome in Pinar del Rio province.
Material and method: an applied, observational, descriptive and cross-sectional study that included 305 children (from 5 to 18 years old) suffering from type-III Ehlers–Danlos Syndrome (EDS) to the diagnosis of typical articular manifestations of the disease, along with an assessment that involved cardiology, ophthalmology, physical-therapy specialties; performing at the same time a coagulation assay and peripheral blood smear.
Results: no sex prevalence was found and family history was present in more than the half of patients, where maternal line prevailed. Hemorrhagic familial trend was positive in 36 cases. The main manifestations found in these patients were described to this health condition, the existence of mucous-cutaneous bleeding predominated or as a consequence of invasive procedures in 181 children; which was associated with the presence of disorders associated with macro-platelets and the finding of disperse platelets in peripheral-blood smears.
Conclusions: the results evidenced the presence of qualitative platelet disorders that must be evaluated by means of much more specific coagulation assays, not in existence in the province, which must include aggregation and platelet function.

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Published

2013-06-28

How to Cite

1.
Campo Díaz MC, Fortún Campo A, Beades Martínez A, Gato Santiesteban Y, Valdés Sojo C. Characterization of Type-III Ehlers–Danlos Syndrome. Rev Ciencias Médicas [Internet]. 2013 Jun. 28 [cited 2025 Sep. 20];17(3):16-24. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/669

Issue

Vol. 17 No. 3 (2013)

Section

ORIGINAL ARTICLES

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