Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study

Abstract

Introduction Priapism is the persistent and painful erection of the penis and is a common sickle cell disease (SCD) complication. Aim The goal of this study was to characterize clinical and genetic factors associated with priapism within a large multi-center SCD cohort in Brazil. Methods Cases with priapism were compared to SCD type-matched controls within defined age strata to identify clinical outcomes associated with priapism. Whole blood single nucleotide polymorphism genotyping was performed using a customized array, and a genome-wide association study (GWAS) was conducted to identify single nucleotide polymorphisms associated with priapism. Main Outcome Measure Of the 1,314 male patients in the cohort, 188 experienced priapism (14.3%). Results Priapism was more common among older patients (P = .006) and more severe SCD genotypes such as homozygous SS (P < .0001). In the genotype- and age-matched analyses, associations with priapism were found for pulmonary hypertension (P = .05) and avascular necrosis (P = .01). The GWAS suggested replication of a previously reported candidate gene association of priapism for the gene transforming growth factor beta receptor 3 (TGFBR3) (P = 2 × 10−4). Clinical Implications Older patients with more severe genotypes are at higher risk of priapism, and there is a lack of consensus on standard treatment strategies for priapism in SCD. Strengths & Limitations This study characterizes SCD patients with any history of priapism from a large multi-center cohort. Replication of the GWAS in an independent cohort is required to validate the results. Conclusion These findings extend the understanding of risk factors associated with priapism in SCD and identify genetic markers to be investigated in future studies to further elucidate priapism pathophysiology.

The Risk of Cardiovascular and Cerebrovascular Disease in Men With a History of Priapism

“…25 Cintho Ozahata et al reported an increased frequency of pulmonary hypertension in a cohort of 188 men with priapism, but the etiology was not identified. 26…”

Characterization of HIV risks in a Brazilian sickle cell disease population

“…Risk of HIV in SCD may be also modulated by lower exposure to HIV, as a few prior studies have demonstrated lower levels of sexual activity in small samples of SCD patients [ 9 – 11 ]. Individuals with SCD may suffer from chronic pain, priapism [ 12 ] and other conditions that could potentially affect sexual health.…”

Análise epidemiológica da mortalidade em pacientes portadores de doença falciforme seguidos no Hospital das Clínicas da Faculdade de Medicina de Ribeirão Preto / Universidade de São Paulo

“…O priapismo (ereção indesejada na ausência de desejo ou estimulação sexual) é um problema comum, sério, muitas vezes subdiagnosticado na DF e que pode ser fator de risco inicial para o desenvolvimento de outras complicações 34 . Episódios prolongados podem levar a alterações irreversíveis, incluindo necrose do tecido, fibrose e disfunção erétil.…”