Spotlighting Women with Hemophilia: A New Focus for World Hemophilia Day

World Hemophilia Day (WHD), observed annually on April 17th, takes on a crucial theme this year: addressing the diagnostic and treatment disparities faced by women with hemophilia and other congenital bleeding disorders.This year’s focus underscores the urgent need for equitable access to care, particularly for women who have historically been overlooked in the diagnosis and management of these conditions.

The Underestimated Reality of Congenital Hemorrhagic Diseases in Women

Congenital hemorrhagic diseases (CHDs) are a group of inherited rare disorders stemming from deficiencies in blood coagulation factors, leading to an increased susceptibility to bleeding. while hemophilia A (factor VIII deficiency) and hemophilia B (factor IX deficiency), along with Von Willebrand disease, are the most prevalent CHDs, affecting over 10,000 individuals in Italy alone according to recent data from the Istituto Superiore di Sanità (ISS), the impact on women has often been minimized.

Historically, hemophilia was mistakenly considered a primarily male condition, with women viewed mainly as carriers. However, contemporary understanding acknowledges that due to X-chromosome inactivation (lyonization), women can indeed manifest factor VIII or IX deficiencies. Cristina Cassone, president of Fedemo, emphasizes that approximately 30% of women can be affected by these pathologies. Furthermore, female carriers face a heightened risk of bleeding episodes, with 10-15% experiencing significant hemorrhagic events. obstetric and gynecological bleeding are particularly prominent concerns, perhaps necessitating additional interventions and leading to further complications.

Late Diagnosis: A Critical Challenge

A key objective of WHD 2025 is to dispel the misconception that hemophilia and CHDs are exclusively male conditions. While severe cases in males frequently enough lead to early diagnosis due to spontaneous bleeding, milder or moderate deficiencies in women are frequently underestimated or misdiagnosed. This diagnostic delay can prevent timely intervention and appropriate patient management.

Recognizing the Signs: Key Indicators in Women

Vito Trojano, president of the Italian Society of Gynecology and Obstetrics, highlights that suspicion of a bleeding disorder in women can arise at various life stages. Triggers can include excessive bleeding after dental procedures, heavy menstrual cycles, or, most dramatically, postpartum hemorrhage, which in severe cases may necessitate surgical intervention, such as hysterectomy.

Elvira Grandone, Associate Professor of medical and Surgical Sciences at the University of foggia, emphasizes the importance of recognizing “alarm bells.” These include heavy menstruation during adolescence, abnormal bleeding during fertile years (especially during pregnancy or postpartum), and recurrent miscarriages. These signs warrant further investigation to rule out underlying coagulopathies.

The Path to Effective Treatment: From Diagnosis to Personalized Care

Giancarlo Castaman, president of the Italian Society for the Study of Hemostasis and Thrombosis, notes that misdiagnosis can lead to unnecessary treatments, ranging from blood transfusions to surgical procedures. He stresses the availability of specific hemostatic therapies for managing and preventing bleeding in various CHDs, but underscores that accurate diagnosis is paramount for effective, targeted treatment.

Simple screening tools, such as questionnaires, can aid in early detection. Silvia Linari, head of Clinical Experimentation at AOU Careggi Firenze, describes a successful program in Tuscany where a von Willebrand disease (VWD) test questionnaire is administered to women in gynecological settings. Positive results trigger hematological evaluation,leading to diagnosis and multidisciplinary management.This initiative has already identified several women with mild CHDs, enabling appropriate care.

looking ahead: National Guidelines and Collaborative Efforts

Experts are advocating for clearer, standardized guidelines for managing CHDs in women. Rita Carlotta Santoro, president of the Italian Association of Hemophilia Centers, notes the existence of international guidelines addressing diagnosis and management, particularly concerning menstruation and pregnancy. In Italy,AICE is actively developing national guidelines through a dedicated working group focused on clinical and research aspects related to women affected by or carrying CHDs.

raising awareness and Ensuring Equitable Access

In conjunction with WHD 2025, a public awareness campaign is being launched in collaboration with the Ministry of Health, healthcare institutions, and scientific societies. The campaign aims to encourage women to proactively investigate their coagulation status through specialist checks and exams,addressing a frequently overlooked aspect of women’s health that can lead to serious complications.

Marcello Gemmato, Undersecretary of Health, emphasizes the importance of fair access to new therapies and personalized care pathways as a public health and social equity imperative. He acknowledges the invaluable contributions of women within the CHD community, including patients, healthcare professionals, and family members, to advancing healthcare progress.