In recent years, notable progress has been made to highlight the vast gap in women’s health and boost awareness around it. On average, women spend 25% more of their lives in poor health compared to men, and closing this gap could add at least $1 trillion to annual global GDP by 2040. Fortunately, more publications and studies are also emerging to point out under-researched and under-diagnosed women-specific conditions (such as endometriosis and menopause) and conditions that disproportionally affect women (migraine and Alzheimer’s) or manifest in women differently (cardiovascular and pain).
At the same time, less is being said about rare diseases from the perspective of women’s health. With this piece, we will underscore the existing gap and encourage industry players in the rare disease field to focus on women’s health.
Prevalence of Rare Diseases in Women
A variety of rare diseases affect women disproportionally. Four out of 5 patients with autoimmune diseases, many of which are classified as rare, are women. The ratio for lupus is 9 to 1 in favor of women; for Sjogren’s syndrome, it’s 19 to 1.
Fibromuscular dysplasia, a noninflammatory vascular disease that weakens and stiffens artery walls and can cause stroke, heart attack and aneurysm, is up to 10 times more common in women than in men. In fact, despite being considered a rare disease, this often-underdiagnosed disease may affect up to 4% of all adult women.
Lymphangioleiomyomatosis (LAM), a rare lung disease that may lead to lung collapse, affects women almost exclusively. Moreover, clinical data suggests that menstruation, pregnancy, and estrogen medication can worsen the symptoms in certain patients.
The exact reasons why rare diseases are more present in women than men are unknown, but some of the hypotheses include hormonal factors, genetic predisposition and women’s stronger immune systems. Our lack of understanding of rare diseases’ skew is partially because of existing research biases.
Research Gaps
A vivid example is a 2024 Standford Medicine-led study on female biology behind autoimmune diseases. While every female cell has two X chromosomes, one X chromosome is disabled to ensure that the right levels of proteins are produced from that chromosome pair. The way the second chromosome is shut down generates unfamiliar molecular structures that can trigger antibodies and lead to autoimmune disorders.
X-chromosome inactivation is achieved courtesy of a molecule called Xist. But for several decades, a male cell line was used as the standard of reference in research. That male cell line produced no Xist, and as a result, this source of women’s autoimmune susceptibility went unseen.
Biases Against Women in Rare Disease Diagnosis
Within the complex and long process to receive an accurate diagnosis of a rare disease, women tend to be diagnosed later than men. For example, this is confirmed by the report from Alliance Maladies Rare, a French rare diseases alliance that includes more than 230 patient organizations and represents nearly 3 million people and 6,000 diseases. The report indicates that French women are directed to hospitals and specialists later than men following the onset of symptoms, which delays diagnosis. It also shows that, on average, symptom management starts before diagnostic confirmation for men and after confirmation for women.
The same is stated by EURORDIS-Rare Diseases Europe, a nonprofit alliance of over 1,000 rare disease organizations from 74 countries. According to its survey, women rare disease patients wait an average of 5.4 years to receive a diagnosis, compared to 3.7 years for men.
On the occasion of Rare Disease Day, EVERANA INTOUCH reiterates the need for the inclusion of women in rare disease research and removing diagnostic biases. The above facts highlight the importance of addressing rare disease patients with a focus on women’s health. By paying specific attention to women and demonstrating awareness of the existing care gap, pharmaceutical companies can reach a significant portion of patients – a majority in some of the rare conditions – and improve health outcomes in the industry. Activating effective ways to serve women with rare diseases presents a significant growth opportunity for market leaders.
Having served 147 rare disease brands over 18 years, EVERSANA INTOUCH has the deep experience and expertise that brands need to identify rare disease patients and their providers and effectively engage them along their care journeys with precision and personalization. Learn more about how your brand can drive outcomes and impact in rare disease.