Contributions
Abstract: PB2409
Type: Publication Only
Background
Sickle cell disease (SCD) is the most common monogenic disease worldwide. The disease mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin, but its prevalence is increasing in Europe, probably as a result of human migration. The incidence of SCD is not gender related, since it is transmitted as an autosomal recessive disorder. However, there have been reports of sex related differences in SCD mortality and morbility in adult patients. No studies are currently available about gender heterogeneity in the pediatric population.
Aims
The aim of this study is to find gender-related differences in the clinical course of SCD in a pediatric population.
Methods
In our study, we retrospectively analyzed the clinical records of 39 pediatric patients with a diagnosis of SCD (hemoglobin SS genotype), 23 males (59%) and 16 females (41%). We studied the gender differences analyzing the frequencies of the pain crisis per year, the number of blood transfusion per year, cardiac sequelae and severe complications (e.g. infectious, cardiovascular).
Results
Pain crisis frequency per year were significantly increased in the male population with a mean number of crisis per year of 1.6 versus 0.6 in the female population (p=0.04). Also, severe complications were mostly found in the male population; in fact, in 4 cases of osteomyelitis, 3 occurred in male patients and 1 in female patient. Moreover, we observed one case of transient ischemic attack and one of portal vein thrombosis, both of them occurred in male subjects. To evaluate cardiac complications of the disease, we analyzed the echocardiographic findings, available in 31 patients (17 males and 14 females). SCD-related cardiac complications were observed mainly in the male population: among 13 patients with echocardiographic alterations, 10 of them were boys (77%) and 3 were girls (23%) (p=0.04, Fisher’s test). The number of blood transfusions per year was not different in males and females. The age at diagnosis was lower in males (median age of 2 years) than in girls (median age of 4 years), without reaching statistical significance (p=0.08).
Conclusion
Our data support the hypothesis that gender could play a role in determining the clinical course of SCD. The higher morbility in males is a well-known feature of SCD in adults but this is, to our knowledge, the first study that confirms this finding in a pediatric population. In our cohort both pain crisis frequency and severe complications of the disease were found to be more frequent in males than in females. We also found that the median age at diagnosis is higher in girls, probably explaining the lower total number of females in our population. These two findings support the hypothesis of a less severe clinical phenotype occurring in girls, so that the milder course of the disease leads to a later diagnosis in this group of patients. These sex-related differences, in part observed in the adult population, have, until now, been attributed to hormonal variations that are physiologically found in the two sexes after puberty. On the other hand, in a pediatric population, other factors must be responsible for these differences and should be addressed to in further studies. These findings might also be valuable to integrate gender as a factor in the risk assessment of these patients at diagnosis, and possibly guide therapeutic decisions, with the aim of personalizing the therapy.
Session topic: 27. Sickle cell disease
Keyword(s): Gender, Hemoglobinopathy, Pediatric, sickle cell disease
Abstract: PB2409
Type: Publication Only
Background
Sickle cell disease (SCD) is the most common monogenic disease worldwide. The disease mainly affects people of African, Caribbean, Middle Eastern, Eastern Mediterranean and Asian origin, but its prevalence is increasing in Europe, probably as a result of human migration. The incidence of SCD is not gender related, since it is transmitted as an autosomal recessive disorder. However, there have been reports of sex related differences in SCD mortality and morbility in adult patients. No studies are currently available about gender heterogeneity in the pediatric population.
Aims
The aim of this study is to find gender-related differences in the clinical course of SCD in a pediatric population.
Methods
In our study, we retrospectively analyzed the clinical records of 39 pediatric patients with a diagnosis of SCD (hemoglobin SS genotype), 23 males (59%) and 16 females (41%). We studied the gender differences analyzing the frequencies of the pain crisis per year, the number of blood transfusion per year, cardiac sequelae and severe complications (e.g. infectious, cardiovascular).
Results
Pain crisis frequency per year were significantly increased in the male population with a mean number of crisis per year of 1.6 versus 0.6 in the female population (p=0.04). Also, severe complications were mostly found in the male population; in fact, in 4 cases of osteomyelitis, 3 occurred in male patients and 1 in female patient. Moreover, we observed one case of transient ischemic attack and one of portal vein thrombosis, both of them occurred in male subjects. To evaluate cardiac complications of the disease, we analyzed the echocardiographic findings, available in 31 patients (17 males and 14 females). SCD-related cardiac complications were observed mainly in the male population: among 13 patients with echocardiographic alterations, 10 of them were boys (77%) and 3 were girls (23%) (p=0.04, Fisher’s test). The number of blood transfusions per year was not different in males and females. The age at diagnosis was lower in males (median age of 2 years) than in girls (median age of 4 years), without reaching statistical significance (p=0.08).
Conclusion
Our data support the hypothesis that gender could play a role in determining the clinical course of SCD. The higher morbility in males is a well-known feature of SCD in adults but this is, to our knowledge, the first study that confirms this finding in a pediatric population. In our cohort both pain crisis frequency and severe complications of the disease were found to be more frequent in males than in females. We also found that the median age at diagnosis is higher in girls, probably explaining the lower total number of females in our population. These two findings support the hypothesis of a less severe clinical phenotype occurring in girls, so that the milder course of the disease leads to a later diagnosis in this group of patients. These sex-related differences, in part observed in the adult population, have, until now, been attributed to hormonal variations that are physiologically found in the two sexes after puberty. On the other hand, in a pediatric population, other factors must be responsible for these differences and should be addressed to in further studies. These findings might also be valuable to integrate gender as a factor in the risk assessment of these patients at diagnosis, and possibly guide therapeutic decisions, with the aim of personalizing the therapy.
Session topic: 27. Sickle cell disease
Keyword(s): Gender, Hemoglobinopathy, Pediatric, sickle cell disease