Misdiagnosis of Fibromuscular Dysplasia in Women
Kari Ulrich RN
Professor Bonnie Kehm, PhD, RN
January 20, 2017
This paper explores gender bias as a contributing factor in misdiagnosis of fibromuscular dysplasia (FMD), a vascular disease in females. It has been established that over 90% of diagnosed FMD patients are women. In a disease that is vascular in nature, it is reasonable to look at comparisons in female patients with cardiovascular diseases. Although FMD is different from atherosclerosis, FMD and heart diseases share similarities in risk factors. The articles reviewed included current literature on FMD and gender bias in health care, including cardiovascular disease. The sources were used to understand the bias towards women’s health care historically in addition to gender bias in heart disease. As research about gender disparity in women’s health become available, the sharing of results are essential in clinical practice as well as indoctrination in medical training. Indeed, as a consequence of these comparisons and consideration of the history of gender bias in health care, gender bias is undeniably a factor in the misdiagnosis of FMD in women.
Keywords: Fibromuscular Dysplasia, Gender Bias, Women
Misdiagnosis of Fibromuscular Dysplasia in Women
Recognizing a vascular event in women with fibromuscular dysplasia (FMD) is imperative in avoiding misdiagnosis. When a woman arrives at the emergency room complaining of a headache and neck pain, most physicians will formulate a list of differential diagnoses, usually thinking of common causes while ruling out the most dangerous ones. Physicians will do a proper workup and imaging, and when the results come back negative, they often diagnose women with stress or anxiety. Significant clinical signs are there, so why are health care providers missing them? Women with undiagnosed fibromuscular dysplasia are often sent home only later to suffer a heart attack, carotid dissection or stroke. Although fibromuscular dysplasia is thought to be more prevalent than breast cancer, misdiagnosis in these women is a critical concern (Burton, 2009). Women with fibromuscular dysplasia have an increased risk of an adverse event through misdiagnosis due to gender disparities.
Several articles have been written about fibromuscular dysplasia (FMD), but gender bias has not been considered a factor in the misdiagnosis of FMD. This review examines information on FMD and gender bias in health care. The journal articles are peer reviewed and were retrieved online from Google Scholar and ProQuest. One newspaper article was used, which gives a perspective from the patient point of view.
The current literature establishes that FMD is a disease that predominantly affects the female population, and symptoms are often dismissed (Olin et al., 2014). Gender bias may play a critical role in the misdiagnosis of FMD, as evident in the literature on women’s health care. Similarities of gender bias as it relates to women diagnosed with cardiovascular disease are compared to women diagnosed with FMD.
FMD is defined as a rare, non-inflammatory vascular disease that affects mid to distal arteries. It is different from atherosclerotic disease, which is caused by inflammation. However, inflammatory biomarkers have been found in a cohort of FMD patients (Ganesh et al., 2014). Medial FMD is the most common classification of FMD and accounts for greater than 90% of the diagnoses today (Olin et al., 2014). FMD is not a well-understood disease due to little to no natural history recorded in the past 75 years (Shivapour, Erwin, & Kim, 2016 p. 376). The limited knowledge of FMD contribute to physicians not recognizing FMD manifestations.
The current literature suggests that FMD is underdiagnosed. The prevalence of FMD in the general population has been mainly based on renal transplant donors with limited information from cerebral angiography studies and autopsy studies. Information from the Cardiovascular Outcomes in Renal Atherosclerotic Lesions (CORAL) trial showed that of the 58 participants who were screened for FMD and conversely diagnosed with FMD during the trial, 44 were female (Shivapour et al., 2016, p. 378). The exact prevalence of FMD in the general population is unknown although Brinza and Gornik (2015) have noted that 90% of FMD patients are women (para. 1). Research is needed to understand epidemiology in the general population.
FMD can affect any vascular bed but is commonly seen in the renal and carotid arteries. Symptoms of FMD vary depending on the vascular bed involved. Typical symptoms include a headache, high blood pressure, dizziness, and pulsatile tinnitus. FMD should be suspected in young women who suffer arterial dissections, transient ischemic attacks, or myocardial infarctions as these afflictions may be life threatening (Brinza & Gornik, 2016). Out of seven FMD patients featured in a Wall Street Journal article from 2009, two were diagnosed at autopsy after suffering from cardiac-related deaths due to FMD. The remaining five patients stated that their symptoms had been dismissed by health care providers as being stress related or psychosomatic (Burton, 2009). It should be noted that not all patients are symptomatic, and some patients are diagnosed incidentally when being tested for unrelated ailments.
The Institute of Medicine (IOM) reports that historically, women’s health needs have been neglected (Wenger, 2012). Women make up approximately 50% of the population and are major consumers of healthcare. Nevertheless, until recently, women have been excluded from the medical curriculum (McGregor et al., 2013). For example, the medical school curriculum does not cover gender bias, and there is minimal teaching on rare vascular disorders such as FMD. Women’s health initiatives have been addressed over the past few decades. In the early 1990s, medical institutions started to address the problem by incorporating women’s health curricula into medical education (McGregor et al., 2013).
Lack of familiarity with FMD, predisposition of females to this disease, and vague presenting symptoms can lead to misdiagnosis of FMD. According to Wenger (2012), females are 52% more likely to have a delay in emergency care for cardiac symptoms than men (para. 24). Similarly, Brinza and Gornik (2015) describe a major problem with the care of FMD patients, noting that the time from the start of symptoms to the time of diagnosis is approximately seven to nine years (para. 6).
Common misconceptions of FMD are found throughout historical literature and have been noted by Olin et al. (2014). There is a misconception that all coronary, carotid, and renal disease is inflammatory in nature. This misconception may lead physicians to miss the diagnosis of FMD by relying on tests that show inflammation. As such, physicians may forgo imaging that would demonstrate FMD. Cardiovascular events often present differently in women than in men. Coronary FMD has recently gained attention in the medical literature as a predisposing condition for spontaneous coronary artery dissection (SCAD). Brinza and Gornik (2016) state SCAD presents as an acute coronary syndrome. Furthermore, Wenger (2012) notes that 50% of women with acute coronary syndrome have no evidence of obstructive disease in their coronary arteries (para. 14). Coronary FMD may be underdiagnosed due to the appearance of the artery. Olin et al. (2014) describe coronary FMD as a focal narrowing whereas medial FMD has a string-of-beads appearance.
The history of gender bias in women’s health care influences how women with FMD are treated presently. Gender bias has been evident in the accounts of patients and families, describing how they were dismissed by medical professionals (Burton, 2009). Gender bias in clinical practice continues to be a challenge today (McGregor et al., 2015). Acknowledgment of gender bias in women’s health care and continued education are critical factors in reducing misdiagnosis of FMD.
Understanding Fibromuscular Dysplasia
In order to understand the risk of adverse events for women presenting with fibromuscular dysplasia (FMD), there needs to be an understanding of the disease, itself. As discussed in the literature review, FMD is a non-inflammatory vascular disease that affects mid to distal arteries. FMD can affect any vascular bed and is commonly found in the intracranial and renal arteries. FMD is currently considered a rare disease, although several leading experts argue that it is not rare but rather overlooked (Brinza & Gornik, 2016 p. 45). The importance of knowing the difference of FMD compared to an inflammatory disease such as atherosclerosis is imperative in making a correct diagnosis. For example, an FMD patient complaining of neck pain, headaches, or dizziness may be worked up for carotid artery disease, especially if the physician hears a bruit. The physician may proceed with an ultrasound of the neck thinking that atherosclerotic plaque is the cause of the bruit. With carotid artery FMD, the distal portion of the carotid artery must be visualized, or the diagnosis would easily be missed. As Olin et al. (2014) point out, atherosclerosis occurs at the proximal portion of the artery, unlike FMD, which is seen at the mid to distal arteries (p. 1056). This scenario could happen in any of the vascular beds. Interestingly, FMD can affect men, women, and children but is more prevalent in young, and middle-aged women.
Gender Bias a Consideration in Misdiagnosis
Gender bias cannot be ignored as a factor for misdiagnosis of FMD. History suggests women have been underrepresented in health care as far back as the pre-1940s. McGregor et al. (2013) have noted that women had been protected from clinical trials since before World War Two, and they go on to say that this was out of fear of harm to a woman’s unborn child (p. 2). However, this is not the entire reason. Women’s hormones played a role. It was thought that because women had fluctuations in hormones, men would be more suitable as subjects to represent both sexes (McGregor et al., 2013). For decades; women were seen as having uncontrollable hormones, and in turn, this led to stereotyping women as hysterical and anxious when presenting with symptoms such as a headache, dizziness, or chest pain. Since it takes, on average, seven to nine years to be diagnosed (Brinza & Gornik, 2015), female patients have been left to believe that their symptoms are imagined. According to Burton (2009), a female patient described going to the emergency room experiencing severe abdominal pain and was told that her symptoms were all in her head, she was later diagnosed at another hospital with intestinal ischemia secondary to FMD. Another female patient explained that it took three visits to two hospitals before she was finally diagnosed with a carotid dissection. It would be another year before she was diagnosed with FMD as the cause of the dissection. These experiences are common in the female FMD community. Dr. Olin, a leading expert in FMD, states that one of the biggest mistakes made by physicians is telling patients that their symptoms are all in their head (Burton, 2009).
Reflections on the Future
Women’s health is starting to be a priority in both medical curricula and clinical practice. McGregor et al. (2013) state that changes are being made at the federal level, with the establishment of the National Centers of Excellence in Women’s Health in academic medical centers, focusing on gender disparity in the education of physicians (p. 3). Dr. Olin et al. (2014) list, as one of the top research priorities, studying the prevalence of FMD in the general population of women aged 16-65 (p. 1069). Acknowledgment of bias in women’s medical care and knowledge of FMD as a disease that is prevalent in women is vital to decreasing misdiagnosis.
Do women with fibromuscular dysplasia have an increased risk of an adverse event through misdiagnosis due to gender disparity? Gender bias in healthcare is evident throughout literature. What about gender bias in a disease that is predominate in females? Could this explain the delay in diagnosis that patients with FMD experience? The validation that comes from finally being diagnosed is helpful, but the years of damage that has already been done to the body, mind, and spirit, over a period of years, cannot be repaired so easily. Provider awareness of gender bias when women present with symptoms of FMD will likely improve how patients are perceived. The acknowledgment that gender bias plays a role in the misdiagnosis of FMD will be a factor in reducing the risk of an adverse event. Nevertheless, until funding of clinical research is secured in both women’s health and FMD, there is little hope of improving the quality of life in this cohort of patients.
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Burton, T. (2009, June 27). “The ‘rare’ disease that isn’t”. The Wall Street Journal, Retrieved from http://www.wsj.com/articles/SB124605981966763611
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