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Varkey, Lee Roeder, Daum, Ravi, Courtois, Simtion, Simtion, Merhavy, Merhavy, Frohman, Frohman, Spann, and Ansaloni: Case study: Stomach ulcers in the context of tricuspid atresia—“I can barely stomach it”
Case study

Abstract

This case study focuses on the evaluation of a patient with both upper and lower gastrointestinal (GI) complaints in the outpatient setting, that is, how the evaluation skipped over several crucial diagnostic steps, and how this impacted the patient. Special care is given to the patient’s perspective, differential diagnosis, recommended laboratory testing, and their corresponding costs, taking on a patient-centered approach to the evaluation, diagnosis, and treatment of illness. In this case, sufficient medication history was not obtained, causing the patient to undergo an expensive and unnecessary procedure. Acquiring this information is the cornerstone of an effective patient-physician relationship. Based on the history, a standardized diagnostic approach can be employed, given the likelihood of certain diagnoses. Often, the workup should start with less invasive and expensive tests. However, it is important to consider each isolated case, as a more aggressive approach may be indicated in certain instances. Special attention to communication between the patient and provider is key in ensuring that the patient understands what is happening in their medical care, which improves their communication with relevant information to the care provider, and through such understanding, our patients are better able to provide informed consent.

1. Introduction

Gastrointestinal disturbances are commonly caused by stomach ulcers secondary to H. pylori infections, peptic ulcers secondary to the use of medications, and celiac disease [14]. Other common causes include gastroesophageal reflux disease, gastritis, chronic pancreatitis, Crohn’s disease, cholelithiasis, irritable bowel syndrome, and gastric outlet obstruction [14]. This article will present the evaluation of a patient with both upper and lower gastrointestinal (GI) complaints in the outpatient setting, that is, how the evaluation skipped over several crucial diagnostic steps, and how this impacted the patient. Special care is given to the patient’s perspective, differential diagnosis, recommended laboratory testing, and their corresponding costs, taking on a patient-centered approach to the evaluation, diagnosis, and treatment of illness.

2. Case presentation

The patient is a 25-year-old right-handed Caucasian woman with a complex medical history including Chromosome 4q deletion and duplication, cleft palate status post-surgical correction, 22 surgeries for congenital cardiac and spinal column anomalies, tricuspid atresia treated with aspirin, right-sided benign breast tumor status post-surgical removal with clear margins, non-alcoholic steatohepatitis, bilateral carpal tunnel syndrome, scoliosis, right-sided sciatica, mild depression, panic disorder, and mild anxiety. The patient states that she has been dealing with GI disturbances for the last few years. She says that these subjective symptoms include the following: constant nausea with non-bloody, non-bilious vomiting at least once daily accompanied by abdominal cramping, and watery diarrhea. She states that these attacks occur each night, interrupting her normal interactions with friends and family, as she spends “an hour or three” in the restroom each night after dinner. The patient says that these symptoms do not get worse around her menses and that she continues to have regular menstrual cycles every 28 days.

Although she maintained a food diary, no specific foods were found to cause the symptoms. The patient initially thought that her symptoms were caused by dairy, salt, soy sauce, alcohol, or gluten, but when each was individually removed from the diet, the symptoms persisted. She has tried numerous over-the-counter medications, herbal remedies, and at home tricks to ameliorate the symptoms, but nothing has alleviated them.

2.1. Patient’s experience in the primary care office

The patient states, “I have had stomach issues since my adolescence. It got worse when I was in college. When I moved to California to live with my family, it got so bad that I was missing out on stuff with family and friends. My family tried to remove items in our diet, but anything that touched my stomach caused pain. I went to my doctor, and he referred me to a GI doctor. When I went to the GI doctor, he asked me a bunch of questions. After hearing my story, the physician told me I should undergo an esophagogastroduodenoscopy (EGD).

He did not explain what it was for, but he made me get approval for the procedure from a cardiologist. In February of 2020, I went to the hospital to have it done. I was ‘freaking out’ all day because I thought I might have cancer.”

2.2. Differential diagnosis

Based on the patient’s symptoms, multiple diagnoses must be taken into consideration. First, H. pylori infection should be considered, as it is the most common cause of gastrointestinal disturbances [1]. H. pylori causes a plethora of gastrointestinal symptoms and is the leading cause of gastrointestinal cancer globally [1]. However, if found to be the cause of GI distress, H. pylori can be easily treated and cured through empiric therapy.

Second, the patient’s GI disturbances could result from stomach ulcers caused by aspirin therapy, for her, it is tricuspid atresia. Aspirin and other Non-Steroidal Anti-Inflammatory Drugs (NSAIDs) are well-known causes of peptic ulcers because they interrupt the creation of prostaglandins. These lipid molecules are necessary for mucus production, which protects the lining of the stomach and shields it from the irritating effects of the stomach acid through their anti-nociceptive effects [2, 3]. The patient’s long-standing history of aspirin therapy for tricuspid atresia should put peptic ulcers high on the differential diagnosis.

Finally, another major disease to consider in this patient, based on age and genetic predisposition, is celiac disease. Celiac disease, though rarer than peptic ulcers, is relatively common among European descendants in the United States. The prevalence is nearly one percent of the population, and the incidence is increasing over time [4]. The classic symptoms of celiac disease are similar to those of this patient, and the testing is simple and inexpensive. As a result, celiac disease should also be high on the differential—to ensure that the patient’s workup is complete—keeping in mind that the removal of gluten from the diet does not necessitate that the patient will no longer have the symptoms of the disease state.

Due to the chronic nature of the patient’s symptoms, the following diseases should also be considered: gastroesophageal reflux disease, gastritis, chronic pancreatitis, Crohn’s disease, cholelithiasis, irritable bowel syndrome, and gastric outlet obstruction. However, because the patient’s complaints included abdominal pain, nausea, vomiting, and diarrhea, these disorders, which mainly target just the stomach and duodenum, should be considered less likely.

2.3. Laboratory testing

To ensure both the safety and proper diagnosis of the patient, several non-invasive tests should be performed. Most of these tests are either covered by insurance or are relatively inexpensive out-of-pocket and can easily rule out the most common causes of GI disturbances. The first test that should be performed is a H. pylori breath test. This test utilizes radiolabeled urea which is broken down by the H. pylori bacteria, if present, and the radiolabeled carbon dioxide is then exhaled by the patient [5]. As of March 21, 2023, this test costs $14 on average in the United States [6]. The next non-invasive test that should be performed is a complete abdominal ultrasound to look for biliary tree issues, including cholelithiasis and other anatomical derangements. As of March 21, 2023, this test costs $420 on average [7]. The third major test to run is a 24-hour pH monitoring exam, which can evaluate for reflux disease and costs around $600 [8].

Finally, two additional tests should be performed as part of the initial workup—a stool sample and blood test. The stool sample can help rule out parasitic disease, viral disease, or bacterial disease of the GI tract or pancreas, and the blood tests evaluate for systemic diseases, including anemia, nutritional derangements, or vitamin deficiencies. The cost for stool testing is approximately $35, and the blood testing is approximately $50, including the CBC, CMP, and vitamin levels [8]. In this patient’s specific case, allergy testing would not be advised as part of the initial workup. The patient did not experience symptom relief with the use of an elimination diet; therefore, the Choosing Wisely campaign recommends against the routine use of allergy testing [9]. Overall, the compilation of these recommended tests would total roughly $1,120 without insurance and would rule out the most common causes of GI disturbances. This workup should have been performed instead of jumping directly to an EGD (Figure 1), which was both costly and put this patient under unnecessary risk. The costs for these tests, as of March 21, 2023, are listed in Table 1.

Table 1

Costs of common GI diagnostic tests

Procedure Cost
H. Pylori Breath Test $14 [1]
24-hr pH monitoring $600 [2]
Abdominal US $420 [3]
CBC, CMP, vitamin levels $50 [3]
Stool sample $35 [3]
EGD with or without biopsy $3,000 [4]
Colonoscopy $2,750 [10]
Figure 1

A detailed decision tree for initial workup of Gastrointestinal complaints based on the most common causes of GI disturbance [14]. The Choosing Wisely campaign advises against allergy testing unless the patient has noticed a change in symptoms based on the removal of foods from the diet [9]. Therefore, allergy testing is not included in this figure.

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2.4. The final diagnosis

The patient states, “The doctor told me that they found ulcers during the procedure. Additionally, they took a sample of a node for testing, but nothing came from this. A few weeks later, my doctor called and told me that I needed to stop taking any medications that could induce ulcers, including aspirin and ibuprofen. Upon hearing this, I told him that I was aspirin-dependent because of my tricuspid atresia. He was surprised to learn this and did not know that I was required to take aspirin daily. He then told me that I should begin taking Prilosec every day, though he didn’t explain the purpose or duration of this treatment. It was unclear to me if I would now be on both aspirin and Prilosec for the rest of my life. The cost of the EGD was also not explained to me, and I was left with a $3,000 out-of-pocket bill. To help pay for this, I started going into work early. I was scared, so I had the procedure, but I am not sure if I would have, had I known the cost.”

3. Discussion

We want to address what we believe is a vital part of a physician-patient alliance: taking a proper medical history, medication list, and social history. Had this been done, the patient could have avoided the invasive, costly EGD while still arriving at the same diagnosis by using the patient’s history and lifestyle factors to determine the appropriate workup. For example, an EGD costs, on average, $3,000 and can be particularly dangerous in the setting of an underlying heart condition [10]. Secondary to uneven patient-physician power dynamics, patients may downplay their own concerns, instead of opting to run any diagnostic tests suggested. Therefore, it is the duty of the provider to ensure that the patients have a full understanding of their diagnostic and treatment options, including price, procedure, and the provider’s clinical reasoning.

3.1. Implementing patient-centered care

Medicine exists at the confluence of science and humanity with medical professionals as the bridge. Through science, physicians bring research and evidence-based medicine to understand, holistically, the psychosocial influences underlying each patient interaction. Physicians, therefore, treat people, not lab values. Behind each brave patient is a complicated milieu of social, spiritual, and emotional factors that influence their health care experience and its outcome, given that every patient has the chance to become familiar with their options. Although a physical concern is often the primary focus of the care team, it is important to have a holistic understanding of the patient and their concerns. For example, spiritual beliefs or familial pressures can profoundly alter the care plan. Additionally, financial stressors can delay care seeking, and other responsibilities may increase patient noncompliance. Since no patient has the same background, it is critical to engage the patient in a thorough spiritual, social, and medical history to treat, advocate, and empower our patients to understand their illness and become active players in treating it.

In this case, a sufficient medical and medication history was not obtained, causing the patient to undergo an expensive and unnecessary procedure. Acquiring this information is the cornerstone of a healthy and effective patient-physician relationship. However, we also realize that when only given 20 minutes for a visit, this may not be entirely possible. That is why it is important to build multidisciplinary teams around the patient experience [11]. A physician does not need to be the first team member to gather a patient’s medical or social history. Equipping team members to function at the furthest extent of their individual jobs improves patient outcomes since the team can not only collect better patient history but also provide education and ongoing assistance to the patient following the visit [12].

Based on the history, a standardized diagnostic approach can be employed, given the likelihood of certain diagnoses. Often, the workup should start with less invasive and inexpensive tests, considering the patient’s risk factors, history, and preferences for care, as suggested previously.

Assessing patients’ level of understanding of their treatment and care plan is another important aspect of high-value care. In this case, the patient was left scared and confused, rather than informed and empowered. Communication between the patient, physician, and members of the care team is the core of patient education and advocacy. Although time demands can make long explanations difficult, recognition of the patient’s concerns, as well as avoidance of medical jargon, can promote a positive shift. For example, the patient in this case did not acquire a full understanding of her EGD results, nor did she receive follow-up care. Additionally, she was not thoroughly informed about her Prilosec prescription or for how long she should take this new medication.

Patient advocacy serves as a safeguard when the patient lacks educational or financial resources to fully understand and obtain a diagnostic workup and its implications. The ethical responsibility falls on the healthcare team to ensure that the patient is fully informed and educated. In this case, the patient’s experience could have been improved through the implementation of a thorough history, increased transparency about test costs and risks, and improved education. These three principles should become part of the standardized approach taken when evaluating and treating a patient.

4. Conclusion

This case study helped elucidate several key factors to be considered when working up patients struggling with GI disturbances. Additionally, the danger of inadequate history was an important piece of evidence in this case, especially as it is related to the patient’s perspective of care. In accordance with foundational ethical principles, the physician’s duty is to provide the safest and most effective holistic care, including financial considerations. Understanding the patient’s medical history and psychosocial factors is paramount to avoid a scenario like that which transpired in this case. Ultimately, the dispersal of patient-centered care should be the goal of all physicians, giving patients autonomy and power over their own medical treatment.

Funding

The author(s) declare no financial support for the research, authorship, or publication of this article.

Author contributions

The author(s) declare that all author(s) contributed equally, approve this work, and take full responsibility.

Conflict of interest

Author disclosures: Thomas C. Varkey: none; Roeder, C.L.: none; Daum, R.E.: none; Ravi, S.: none; Courtois, E.C.: none; Simtion, K.: none; Garmer, C.: none; Merhavy, C.E.: none; Merhavy, Z.I.: none; Frohman, T.C.: received speaker fees from Alexion; Frohman, E.M: received speaker honoraria from Genzyme, Novartis, Janssen, and Alexion; Spann, C: none.

Data availability statement

Data supporting these findings are available within the article, at https://doi.org/10.20935/AcadMed6124, or upon request.

Institutional review board statement

Not applicable.

Informed consent statement

The author(s) declare that human participants were involved in this study, and have provided all relevant informed consent forms.

Sample availability

The author(s) declare that no physical samples were used in this study.

Publisher’s note

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