Gender differences in hereditary hemorrhagic telangiectasia severity

Area of Science:

• Medical research
• Genetics
• Clinical medicine

Background:

• Gender differences in hereditary hemorrhagic telangiectasia (HHT) organ involvement and clinical severity are not well-documented.
• HHT is a genetic disorder characterized by abnormal blood vessel formation.

Purpose of the Study:

• To investigate and describe gender-specific differences in the severity of HHT manifestations.
• To compare HHT clinical severity between men and women.

Main Methods:

• Severity was assessed using the Epistaxis Severity Score (ESS), Simple Clinical Scoring Index for hepatic involvement, and a general HHT score.
• Inclusion criteria for invasive treatment and adverse outcomes such as anemia, hospital admissions, and mortality were evaluated.
• Data were collected from 142 women and 100 men with HHT.

Main Results:

• Women exhibited higher rates of hepatic manifestations, hepatic arteriovenous malformations (AVMs), and pulmonary AVMs compared to men.
• The Simple Clinical Scoring Index for hepatic involvement was significantly higher in women.
• While women required more invasive treatments, men presented more frequently to the emergency department.

Conclusions:

• HHT women demonstrate more severe hepatic involvement and a higher prevalence of pulmonary AVMs, necessitating more frequent invasive procedures.
• Men with HHT showed a higher frequency of emergency department visits.
• These findings underscore the importance of gender-specific considerations in the clinical management and follow-up of HHT patients.