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Co-Author(s): Deborah Koehn
While shadowing Dr. Koehn at the Complex Lipid Management Clinic, I had the opportunity to learn from a unique familial hypobetalipoproteinemia (FHBL) patient case. Over the next year, I observed how Dr. Koehn expertly managed the patient’s care. This experience taught me invaluable lessons in clinical reasoning and the intricacies of managing a rare lipid disorder. I aim to share these insights with other medical students, trainees, and physicians to broaden the medical community’s understanding of FHBL and its management.
Familial hypobetalipoproteinemia (FHBL) is a rare genetic disorder characterized by abnormally low levels of low-density lipoprotein cholesterol (LDL-C) and apolipoprotein B (apoB). While it has cardioprotective effects, FHBL can lead to fat-soluble vitamin deficiencies and hepatic steatosis, making early detection crucial. This case report examines a unique presentation of FHBL caused by a heterozygous APOB p.Y3680X mutation. A 28-year-old male presented with significantly low levels of LDL-C, total cholesterol, apoB, and lipoprotein(a) levels. Abdominal imaging revealed mild hepatic steatosis and moderate liver fibrosis. Genetic testing confirmed that the patient has a heterozygous APOB p.Y3680X mutation, a variant previously associated with autosomal recessive hypobetalipoproteinemia when a second pathogenic APOB mutation is present. Management centered on monitoring liver function and fat-soluble vitamin levels to prevent complications. This case underscores the variability in phenotypic expression of APOB mutations, particularly concerning liver health. It also emphasizes the importance of early detection and vigilant management of patients with FHBL to mitigate risks associated with hepatic dysfunction.
I have volunteered extensively in refugee resettlement and observed gaps in health outcomes between newly resettled families and natural-born U.S. citizens. Throughout my MPH degree I learned about social determinants of health and read available past work that quantified the number of foreign-born torture survivors in emergency rooms and primary care settings whose history had been overlooked by their primary care physicians. This made me curious to what education and protocols are available to U.S. physicians caring for foreign-born torture survivors. Identifying gaps in this area may help to ensure that resettlement in the U.S. improves foreign-born patients health outcomes rather than allowing them to worsen.
Introduction: Many refugees and asylum seekers coming to the United States have experienced a history of torture. The U.S. recognizes torture survivors and passed the Torture Victims Relief Act of 1998 which authorizes the Secretary of Health and Human Services (HSS) to create grants to rehabilitate foreign-born torture survivors. Despite this funding, many torture survivors never access these services due to a lack of identification and referral. Increased and improved screening for torture in general medicine settings may increase survivors’ access to necessary torture treatment services. The two objectives of this scoping review are to describe the screening instruments used to identify foreign-born torture survivors and secondarily to assess any education or training available to healthcare staff on the identification of survivors. Methods: Texts reviewed included published and unpublished texts in English found on PubMed, Scopus, Web of Science and CINAHL. References of articles were scanned as well as websites for beneficiaries of Survivors of Torture grants. Results: The most common method of identifying torture victims was through questionnaires and checklists (n=50). Within these texts, torture was commonly combined with trauma history and identified as an exposure for other health sequelae such as posttraumatic stress disorder or chronic pain. Few articles used the questionnaire within a regular primary care visit and feasibility remains unclear. Conclusion: Future work should attempt to develop torture-specific questionnaires that can be validated and used in primary care settings to identify torture survivors that are eligible for torture treatment centers nationally.
The reported incidence of pacemaker endocarditis varies from 0.13-7%, making it a rare but serious complication.
Case Presentation: The patient is a 65-year-old female with a significant medical history, including coronary artery disease status post five-vessel coronary artery bypass grafting in 2016, chronic heart failure with reduced ejection fraction (HFrEF), end-stage renal disease on hemodialysis, diabetes, hypertension, hyperlipidemia, and a left above-knee amputation due to chronic osteomyelitis, was admitted for persistent bacteremia and suspected endocarditis. The patient had received a Medtronic single-chamber ICD in 2007 for primary prevention. In June, she was hospitalized for Gram-positive cocci bacteremia, managed with vancomycin, and underwent removal of her tunneled dialysis catheter. A transesophageal echocardiogram (TEE) on June 21 revealed no definitive valvular vegetations, but noted moderate tricuspid regurgitation associated with the ICD lead, and minimal fibrinous stranding without definitive vegetations. Due to negative blood cultures following dialysis catheter removal, a conservative approach was adopted, entailing a 6-week course of antibiotics and serial blood cultures. On August 10, outpatient blood cultures revealed the presence of Staphylococcus epidermidis, prompting an extension of vancomycin therapy through August 24. Clinical Deterioration: On August 20, the patient was readmitted with complaints of fatigue and shortness of breath persisting for several days. Blood cultures drawn on admission returned positive for Gram-positive cocci, specifically Staphylococcus epidermidis. An echocardiogram performed on August 23 showed an ejection fraction of 45% with suboptimal imaging for endocarditis assessment. A follow-up TEE was performed August 28th which identified a 0.5 x 0.5 cm mobile mass on the right ventricular lead, consistent with endocarditis, and raised concerns regarding possible subacute endocarditis of the mitral valve. A cardiology consultation was conducted, and the decision was made to transfer the patient for potential device extraction. Discussion: The patient’s clinical condition was markedly frail, and she had previously established a DNR/DNI. Given her extensive comorbidities and the complexity of the potential extraction procedure, there was significant concern about her ability to survive such an intervention. It was agreed to pursue a conservative management strategy. Conclusion: This case underscores the complexities of managing pacemaker lead endocarditis in patients with significant comorbidities. Further research is necessary to establish optimal management protocols and improve outcomes in this vulnerable patient population.
Co-Author(s): Ory Streeter, Molly Carson
We implemented relatively drastic changes to our clinic model one year ago in order to improve same day access. The changes impacted resident-patient continuity and resident satisfaction with their clinical experience. Retrospective analysis of the project was therefore of both personal and clinical interest as the pros and cons of significant scheduling strategy changes deserve careful exploration in order to balance patient access, provider satisfaction, and consistent revenue generation.
The UVA Health’s Department of Family Medicine operates a bustling Resident and Faculty Primary Care Clinic. One year ago, the clinic implemented a “Provider of the Day” (POD) model which designates a specific healthcare provider each day to accommodate unscheduled, same-day appointments, aiming to enhance patient access and reduce waiting times. This retrospective review analyzes appointment data and patient characteristics while highlighting critical lessons learned over that one-year period. Further research is recommended to explore the long-term impacts and potential adaptations of the POD model in diverse healthcare environments.
Co-Author(s): Timothy Yu, MD
I am interested in sports medicine and difficult diagnoses of musculoskeletal pain. In this case report, the patient had undiagnosed foot pain with the final diagnosis involving a rare pathology. There is discussion to be had about the utility of repeat imaging over a long period of time, as well as different imaging modalities.
The UVA Health’s Department of Family Medicine operates a bustling Resident and Faculty Primary Care Clinic. One year ago, the clinic implemented a “Provider of the Day” (POD) model which designates a specific healthcare provider each day to accommodate unscheduled, same-day appointments, aiming to enhance patient access and reduce waiting times. This retrospective review analyzes appointment data and patient characteristics while highlighting critical lessons learned over that one-year period. Further research is recommended to explore the long-term impacts and potential adaptations of the POD model in diverse healthcare environments. CASE PRESENTATION – 54-year-old male presents with chronic left ankle pain starting 15 years ago without injury. Pain is located anteriorly and proximally to the ankle joint, and very sensitive to the touch. Patient has seen 11 physicians since the start of symptoms and received PT, NSAIDs, Tylenol, lidocaine patches, and a cortisone injection into the joint without relief. A lidocaine injection into the subcutaneous tissue gave 100% relief for 2 hours. Previously, he had had extensive workup including an ultrasound in 2017 showing serpiginous blood vessels deep to the EHL and EDL tendons without mass or synovitis, an MRI in 2017 showing Achilles tendinopathy, and an MRI in 2020 with tendinopathy of the Achilles and peroneal tendons, mild posterior tibialis tenosynovitis, and trace ankle joint effusion. EMG in 2020 showed possible mild L superficial peroneal sensory neuropathy. MRI and ultrasound were then repeated again in 2023 given the patient’s worsening pain; a 3 cm soft tissue mass was found deep to the flexor hallucis longus tendon at the level of the distal left tibia, along the course of the anterior tibial artery. Biopsy was performed and frozen pathology identified a well-encapsulated brown-tan soft tumor deep to retinaculum, consistent with a benign glomus tumor. The tumor was fully excised, including all of its surrounding capsule that was not adherent to a vessel or nerve. Pain was significantly improved after excision. Following recovery from surgery, the patient was able to resume physical activity and ambulation as tolerated.
Co-Author(s): Jennifer Gilbert, PsyD; Benjamin Webel, BA; Marshall Brooks, PhD; Alex Krist, MD, MPH
I am interested in how to best provide mental health care to my future patients within the primary care setting, and this project was a wonderful opportunity to explore it further.
Primary care physicians often help patients with mental health concerns, but little is known about patients’ views of addressing their mental health needs within the primary care setting. We evaluated the change in self-reported progress and confidence among patients identified as having mental health risks who wanted to create a personal care plan. Within the Enhanced Care Planning Study, a randomized trial R01, 29 patients with multiple chronic conditions chose to create a care plan to improve their mental health. Patients were connected with a patient navigator to help them complete a Health Risk Assessment (HRA) and care planning tool, MOHR. Patients created a care plan for up to two identified risks. Patients were asked weekly to record their care plan progress and update their confidence. The navigator checked in with the patient weekly to provide additional support. Patients and navigators could modify care plans, complete care plans for risks that had been addressed, and select new care plans for new risks. Patients reported an increase in progress on their mental health care plans from baseline to end of care planning (p = 0.010). While there was an increase in average confidence, the increase was not statistically significant (p = 0.297). Care planning can be an effective tool for engaging patients to improve their mental health. Additional research is needed to understand the modifiable factors associated with patients feeling less confident in addressing mental health topics such as anxiety and depression in primary care.
Co-Author(s): Jenna Capuano, DO, FACS
I wrote this case presentation to instill in myself the standard that primary care providers need to maintain. As the resident who evaluated this patient during a General Surgery rotation, this case reminds me to always perform a thorough, deliberate physical exam when necessary, and keep a wide differential diagnosis. It also reminds me why I chose to become a family medicine physician. Although family medicine physicians may not always be involved in multifaceted medical treatments, we are very often the doctors who diagnose the conditions that eventually need complex levels of care. We are the doctors who find the problems that refer to those who can solve them. However, if a diagnosis remains unknown or undetected, it could manifest in ways we could never imagine. This patient’s tumor grew to extraordinary dimensions and if further neglected, it may have metastasized to other organs. Patient education and deliberate history and physical examination is crucial in the role that primary care plays in medicine. This powerful responsibility can only be influenced as such if we continue to give each patient the purposeful and thorough care that they deserve.
Testicular germ cell tumors (GCTs) are a prevalent form of testicular cancer, particularly affecting young adult males. Non-seminomatous GCTs typically present as painless testicular mass, gynecomastia, or testicular pain in a post-pubertal young male. By the time of diagnosis, advanced disease is detected in 60% of patients. This highlights the importance of detecting testicular GCTs early, as they are highly curable when diagnosed in earlier stages. A 20-year-old male presented to Breast Clinic with gynecomastia after an unintentional 80-pound weight loss. Physical examination revealed an incidental finding of an enlarged left testicle. The patient was diagnosed with a mixed Stage IB testicular germ cell cancer. Post-radical orchiectomy, the patient underwent a single cycle of chemotherapy with manageable recovery. AAFP recommends routine testicular examination for any patient evaluated for gynecomastia. Further testicular ultrasound is recommended in patients with palpable testicular masses, gynecomastia measuring >5cm on exam, or otherwise unexplained gynecomastia. Testicular cancer detected at Stage I has a 5-year survival rate exceeding 95%, with lower survival rates at more advanced stages. The American Urological Association (AUA) recommends against routine screening except in high-risk patients. AUA further recommends a prompt evaluation by Urology within 1 -2 weeks for suspicious cases. Although the presentation of painless testicular mass was characteristic for a patient with this diagnosis, it ultimately was diagnosed by the surgeon when being evaluated for a chief complaint of gynecomastia. This case highlights the need for vigilance in thorough physical examination and detection of testicular tumors in the primary care setting.
Co-Author(s): Rida Choudhry, MD
We became interested in this research project because we were perplexed by the initial lack of improvement in our patient. If we had not considered other clues, then we would not have been able to treat our patient appropriately. We think it is a good case to serve as a reminder that we should always think broadly and not tunnel vision based on readily available information.
A Rare Presentation of Sepsis of Unknown Origin in Elderly Patient with Dementia Johnafaye Mariano DO PGY-1, Rida Choudhry MD PGY-2, Syed Atif MD Mary Washington Family Medicine Residency Program Introduction: MSSA bacteremia is a common complication of pneumonia or an infection involving skin, soft tissue, bone or joints. Risk factors include intravenous drug use, indwelling prosthetic devices, diabetes mellitus, and dialysis dependence. In this case, we describe a patient with dementia who had a vague clinical presentation and was diagnosed with MSSA bacteremia secondary to ischial osteomyelitis. This case highlights the inherent challenges in diagnosing patients with dementia. Case summary: 77-year-old female with a history of severe dementia presented to the ER for evaluation of generalized pruritus and low back pain. She was found to have leukocytosis and lactic acidosis. During her admission, MSSA bacteremia was detected which was initially thought to be secondary to skin microabrasions from pruritus. The patient failed to improve despite treatment with appropriate antibiotics. Thus, the medical team utilized the family members’ report for further investigation. It was revealed that the patient had been complaining of sacral back pain. Initially, an MRI of the lumbar and pelvis was recommended, but the patient was deemed a poor candidate due to restlessness. Therefore, a CT scan was performed which revealed a perirectal abscess and ischial osteomyelitis. Discussion: This case demonstrates the challenges that can occur in evaluating patients with cognitive disorders which can result in the inability to provide history or undergo certain diagnostic tests. In these cases, obtaining history from caregivers, having a broad differential list, and using other diagnostic resources personalized for the patient can be vital in diagnosis and treatment.
We aim to investigate how blood pressure is measured and managed during emergent mechanical thrombectomy cases for acute strokes. Although there is no clear optimal anesthetic management for endovascular treatment of acute ischemic stroke, most existing guidelines emphasize that blood pressure management (systolic >140 and <180 and MAP < 70 mm Hg) is critical during these interventions.
While the optimal anesthetic management for endovascular treatment of acute ischemic stroke remains debated, most existing guidelines emphasize that blood pressure management is critical during these interventions. Although many guidelines suggest that an intra-arterial cannula is useful for intraprocedure monitoring, the minimum recommended monitoring typically includes only non-invasive blood pressure measurements. The aim of this research proposal is to investigate how blood pressure is measured and managed during emergent mechanical thrombectomy cases for acute strokes at the University of Virginia. For this project, we will measure the percentage of cases utilizing an arterial line versus non-invasive blood pressure monitoring. Data will be collected on the specific reasons for not placing arterial lines, the frequency of cycling non-invasive blood pressure cuffs. the locations of arterial lines, and the choice of vasopressor in case of hypotension. We will compare the time spent within the target blood pressure (systolic blood pressure between 140 and 180 mmHg and diastolic blood pressure between 70 and 105 mmHg) when using indwelling arterial catheters versus non-invasive blood pressure measurements. Additionally, we will review the reasons for delays in endovascular therapy, focusing specifically on instances where difficult arterial placement caused delays. Finally, we will track the percentage of mechanical thrombectomy cases staffed by a neuro-anesthesia attending versus a non neuro-anesthesia attending, and the percentage of cases staffed by residents versus certified registered nurse anesthetist.