Background: Barriers to Diagnosis
Individuals with rare bleeding disorders often struggle to receive an accurate and timely diagnosis, and this is true for various reasons. For one, because rare bleeding disorders are rare, healthcare providers don’t encounter them very often, so they have little experience testing for and diagnosing them (Palla et al., 2015; Ware, 2023). In addition, providers might have unreliable access to the necessary diagnostic tools or modalities (Palla et al., 2015) or they might incorrectly associate a patient’s symptoms with a more common disorder (Slate, 2024; Ware, 2023). Regardless of the reason, delayed diagnosis and/or misdiagnosis can have a profound impact on patients, leading to serious illness, complications, unnecessary treatments/procedures, and/or death (Slate, 2024). As is evident, more attention to the understanding and diagnosis of rare bleeding disorders is needed.
A Patient Experience
A woman has been experiencing frequent and often spontaneous bruising. When she becomes pregnant, she tells her physician about the bruising, noting that her sister also bruises easily, often without apparent cause. The physician orders several tests, which all come back normal, including the PT and aPTT screenings. As a result, the physician dismisses the patient’s concerns, assuring her that she likely just bruises easily. However, when the woman gives birth, she experiences a delayed postpartum hemorrhage, leading her physician to look into additional causes of the bruising and bleeding. This additional testing reveals that the patient has factor XIII deficiency, a rare bleeding disorder that impacts the blood’s ability to clot.
Reflection
- How should a healthcare provider respond when test results don’t match up with a patient’s lived experience?
- How does a system focused on understanding, diagnosing, and treating more common diseases fail patients with rare (bleeding) disorders? What can be done to better assist patients with rare (bleeding) disorders, especially considering the high cost of extensive testing?
- Review this case study, especially the “Background” section. How might gender be playing a role in the patient experience described here? How can healthcare providers ensure they confront, address, and/or avoid gender bias in patient care?
References
- National Organization for Rare Disorders (NORD). (2022). Factor XIII deficiency.
https://rarediseases.org/rare-diseases/factor-xiii-deficiency/ - Palla, R., Peyvandi, F., & Shapiro, A.D. (2015). Rare bleeding disorders: Diagnosis and treatment. Blood, 125(13), 2052-2061. https://doi.org/10.1182/blood-2014-08-532820
- Slate, A. (2024). Rare blood disorders: Challenges in diagnosis, treatment, and patient care. Hematology and Blood Disorders, 8(1), 1-5.
- Ware, R. (2023). Challenges and advances in rare blood disorders. Journal of Rare Disorders: Diagnosis & Therapy, 9(4), 128. https://doi.org/10.36648/2380-7245.9.4.128