Epidemiology and Pathophysiological Mechanisms of HTAP in SS and SC Children in Martinique and Guadeloupe.
Condition: Sickle Cell Disease
MeSH terms: Pulmonary Arterial Hypertension; Anemia, Sickle Cell
Study type: Interventional

Summary: 
      pulmonary arterial hypertension (PAH) has been reported with a prevalence of approximately
      30% in adult sickle cell disease (SCD) patients, with an increased mortality in SCD patients
      with PAH, compared with those without PAH. The identification of several hemolysis biomarkers
      such as lactate dehydrogenase, bilirubin, reticulocytes or hemoglobin level, has clearly
      documented a link between hemolysis and PAH. However, other physiopathological mechanisms may
      be involved to explain PAH in these patients, such as pulmonary thromboembolism, pulmonary
      fibrosis or left heart diastolic and / or systolic dysfunction.

      The investigators suggest studying HTAP in patient's presenting the most frequent both
      drepanocytic syndromes, SS and SC and homogeneous in their medical coverage and the
      association between HTAP risk and specific SCD complications.
    

Detailed description: 
      The primary aim of this study is to estimate the prevalence and the incidence of PAH in a
      population of SCD children (SS, SC) with similar medical caring, aged from 8 to 16 years old.

      Unlike the important number of studies in SCD adults, very few SCD children studies were
      performed. None of these studies reported the mortality rate associated with PAH in children
      although the literature reported a decrease of this morbid-mortality comparing different
      medical caring of the patients. The investigators hypothesized that physiopathological
      mechanisms responsible for PAH had to be different in SCD children compared with adults, as
      most degenerative processes had no time enough to appear during children's lives. At the
      inclusion in our study the diagnosis of PAH will be performed by transthoracic
      Doppler-echocardiograms in a group of 306 children (aged between 8 to 16 years old) with
      either SS or SC genotype with similar medical caring, to avoid a known selection bias. These
      patients will be followed during a 3 years longitudinal period. The occurrence of the
      clinical specific complications associated with SCD (acute chest syndrome, painful vaso
      occlusive crisis, septicemia and stroke) and the observed mortality rate of our children
      group, will be compared in patients groups stratified according to the occurrence of PAH. The
      expression of several molecular and cellular genetic biomarkers potentially associated with
      this complication will also be studied.
    

Intervention name(s): HTAP/ clinical complications in the sickle cell disease
Intervention type(s): Other
Intervention description(s): At the inclusion in our study the diagnosis of PAH will be performed by transthoracic Doppler-echocardiograms in a group of 306 children (aged between 8 to 16 years old) with either SS or SC genotype with similar medical caring, to avoid a known selection bias. These patients will be followed during a 3 years longitudinal period. The occurrence of the clinical specific complications associated with SCD (acute chest syndrome, painful vaso occlusive crisis, septicemia and stroke) and the observed mortality rate of our children group, will be compared in patients groups stratified according to the occurrence of PAH. The expression of several molecular and cellular genetic biomarkers potentially associated with this complication will also be studied.
Intervention model: Single Group Assignment
Masking: None (Open Label)
Primary purpose: Other
Keywords: Pulmonary arterial hypertension; SCD; Epidemiology