The Importance of Investigative Primary Care Physicians in Managing Complex Genetic Disorders: A Case Study of Ehlers Danlos Syndrome and Its Vascular Complications

Date

2024-03-21

ORCID

0009-0007-5983-7795 (Walker, Madelaine)
0000-0003-4235-7676 (Jain, Kunal)

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INTRODUCTION:

Ehlers Danlos Syndrome (EDS) is commonly thought of in relation to joint hypermobility, its most common feature, yet by no means its most concerning. EDS has several subtypes, some of which do not even present with hypermobility. Despite this seemingly simple and obvious symptom, EDS often presents with symptoms that are mistaken for other diseases, thereby prolonging the diagnosis of EDS for patients. Recent studies have identified life-threatening abnormalities common among patients presenting with EDS, inviting an investigation into whether this collagen disorder could be the underlying cause. This case study aims to review one instance of the associations found with this disease, contributing to the current literature regarding this investigation, improving diagnostic probability of this disease to minimize patient suffering, and furthering the research about uncommon genetic disorders.

BACKGROUND:

This case study surveys a 42-year-old female with EDS, Postural Orthopedic Tachycardia Syndrome (POTS), May Thurner Syndrome, Nutcracker Syndrome, Median Arcuate Ligament Syndrome (MALS), Polycystic Ovary Syndrome, and a host of other diagnoses. She reported a history of doctor visits starting at age 13, initially for abnormal uterine bleeding and then for gastrointestinal issues, prompting a diagnosis of Irritable Bowel Syndrome. She started having seizures and migraines in her twenties, and at age 39, she began to have spells of dizziness and collapsing that led to the diagnosis of POTS. Additionally during this time, she had severe right upper quadrant pain that led to her refusal to eat, causing subsequent weight loss. She obtained abdominal computed tomography angiography at age 41 that finally showed the following findings: Nutcracker Syndrome, May Thurner Syndrome, MALS, and an enlarged duodenum, all of which were missed on the reported nine computed tomography (CT) scans in the preceding two years. A friend with similar symptoms encouraged her to meet with a geneticist, who made encompassing diagnoses of Classical-like and Spondylodysplastic EDS. Experiencing difficulties finding a surgeon willing to perform external vascular grafting, the patient traveled overseas for her abdominal vascular compressions. Throughout her surgeries in life, she experienced complications due to her collagen disorder in which the sutures were not retained or her organs did not stay in place after positioning. The patient expressed frustration with the healthcare system in regards to her delayed EDS diagnosis. Currently, the patient is relieved that her primary care physician (PCP) closely follows her disease progression and responds to her concerns.

CONCLUSION:

Given the various symptoms associated with EDS, it can be challenging for PCPs to make this diagnosis, often leading them to refer patients to specialists for their various symptoms. Unfortunately, this can result in patients not receiving the proper treatment and preventive care, as specialists may only focus on specific aspects of the disease process, potentially worsening the patient's overall condition. Our case study aims to add to the pool of cases related to conditions associated with EDS. Additionally, it highlights the crucial role that PCPs play in diagnosing and managing patients with EDS, given the complex set of symptoms that require close follow-up.

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