United States

Authors: Amelia Klamen B.S., Wouter Ritsema B.S., Ankit Hanmandlu M.D., Ayman Salem M.D., Sahalia Rashid M.D.

Introduction: 
Acute aortic dissection (AAD) is a highly lethal phenomena with a mortality rate of 50% within 48 hours. Timely diagnosis and management of AAD is crucial, yet often is delayed by ambiguous symptomatology. Patients commonly present with extreme chest pain, dyspnea, and abdominal pain, but clinical presentation can also include focal neurological defects, altered mentation, and syncope.

Case Description:
A 56 year old man with a history of hypertension, asthma, polysubstance use, insecure housing, and seizure disorder presented to the emergency department with abdominal pain. His initial workup, including basic labs, lactic acid, and chest x-ray, was unremarkable. He received fluids, Droperidol and was discharged. Three days later, the patient returned with chest pain, shortness of breath, abdominal pain, generalized fatigue, and a new productive cough. Furthermore, he mentioned a severe (10/10) shooting pain his chest to his scrotum, across his shoulders and diffusely throughout his abdomen after smoking heroin three days prior. 

In the emergency department, the patient was afebrile and hemodynamically stable. Laboratory findings demonstrated elevated lactic acid and troponins. Upon examination, he was found to have a bounding S1 and S2 with a holosystolic murmur at the left upper sternal border, and a visible and inferolaterally displaced point of maximal impulse. These findings prompted a transthoracic echocardiogram which showed pericardial effusion and a dissection flap. An emergent CT-Angiogram showed an Type A aortic dissection spanning from the ascending aorta to just proximal of the renal arteries. The patient subsequently underwent emergent surgical aortic dissection repair.

Discussion: 
Aortic dissection is commonly misdiagnosed, with 1/3rd of aortic dissection patients receiving an incorrect initial diagnosis. The case underscores the need for clinicians to consider AAD in patients presenting with acute chest pain, dyspnea, abdominal pain and scrotal pain, even in the absence of classic distress. Furthermore, the association between substance use, particularly heroin, and AAD warrants further investigation. Awareness of atypical presentations and a comprehensive diagnostic approach are crucial for timely identification and intervention in AAD cases. 

Conclusion: 
This case report emphasizes the diagnostic challenges associated with atypical presentations of AAD. Clinicians should maintain a high level of suspicion, especially in patients with diverse symptomatology and risk factors. Further research is needed to explore the relationship between substance use, such as heroin, and the development of AAD. Timely recognition and intervention are pivotal for improving outcomes in this life-threatening condition. 

References:
Levy D, Goyal A, Grigorova Y, et al. Aortic Dissection. [Updated 2023 Apr 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.
Lovatt S, Wong CW, Schwarz K, et al. Misdiagnosis of aortic dissection: A systematic review of the literature. Am J Emerg Med. 2022;53:16-22.

AMA Research Challenge 2024 

Pain from Chest to Scrotum: An Initial Presentation of Aortic Dissection

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Background:
Pembrolizumab is a monoclonal antibody that blocks the immune inhibitory effects of the programmed cell death protein-1 (PD-1) resulting in the enhanced effects of T cells which are beneficial in multiple conditions including malignancies but consequently could have serious autoimmune complications. 

Objectives:
We aim to highlight the mechanism of Pembrolizumab-induced autoimmune conditions and focus on identifying susceptible patients while emphasizing the essential role of physicians in informed patient decision-making regarding whether to continue the medication once the autoimmune condition resolves.

Case Presentation:
A 69-year-old male presenting with progressive lethargy for 1 week associated with fatigue, shortness of breath, and excessive thirst without complaints of nausea or vomiting, abdominal pain, weight loss, polyuria, lightheadedness, or focal neurologic deficits.

Past Medical History of Graves’ Disease status post total thyroidectomy now on Levothyroxine, Stage IV Non-Small Cell Lung Carcinoma of the right upper lobe with metastasis to the bones and adrenals, treated with a combination of Carboplatin, Paclitaxel, and Pembrolizumab. No prior personal or family history of diabetes mellitus.

In the emergency department, Vital signs Temp 36.7, BP 150/90, RR 30s, HR 120s. On physical examination, the patient was lethargic but arousable without focal neurologic deficits and appeared cachectic with dry skin and oral mucosa with noticeable rapid shallow breathing. Diagnostic tests showed serum Glucose 829, Beta-hydroxybutyrate 11.5, urinalysis ++ketones, ABG pH 6.9, Bicarbonate 23, Anion Gap 20, lactate 3.50, Creatinine 2.2 from baseline of 0.86, K 7.7, EKG with peaked T waves with no QRS widening or PR prolongation, other tests including Head CT and Chest X-ray imaging studies were normal. 

The patient was immediately given intravenous fluids and bicarbonate, was started on insulin drip, 
hyperkalemia was temporized with calcium gluconate, and adjunctively given albuterol nebulization with close monitoring of blood glucose and electrolytes. Endocrinology was consulted, and tested for C peptide level (0.22 ng/mL) and Anti-GAD-65 (<5 IU/mL) which were both low. Oncology was also consulted for which they recommended stopping Pembrolizumab for now.

Throughout his hospital stay, his symptoms and blood glucose improved and his Anion Gap normalized, later tolerated oral diet, was successfully transitioned to subcutaneous basal-bolus insulin, and was eventually discharged with strict outpatient endocrinology and oncology follow-up. 

Discussions/Conclusion:
The primary function of the programmed cell death protein-1 (PD-1) is to down-regulate the immune system preventing damage to self-antigen. Pembrolizumab is a monoclonal antibody that blocks the binding of the PDL1 ligand to its receptor causing enhanced T cell response resulting in better tumor killing with consequent increased risk of adverse autoimmune effects such as hyper and hypothyroidism, colitis, nephritis, with type 1 diabetes accounting for only 0.1% of the patients. 

Pembrolizumab added to a standard chemotherapy regimen has shown longer overall and progression-free survival than chemotherapy alone and this is likely the reason why Pembrolizumab-induced autoimmune conditions have been increasing for the past couple of years. 

The predisposing factors for the development of Pembrolizumab-induced type 1 diabetes (T1DM) is not well known. However, previous studies support that patients with a history of autoimmune diseases are more susceptible to develop this complication which was consistent with our patient’s prior history of Graves’ disease.  Pembrolizumab-induced T1DM can present with classic symptoms of diabetes but on rare occasions, it can initially present with diabetic ketoacidosis as evident in our patient. Unlike the classic T1DM where at least one autoantibody is present in 98% of patients, Pembrolizumab-induced diabetes had lower levels which was evident in our patient.

In one meta-analysis, the onset of Pembrolizumab-induced diabetes varied and ranged from one cycle to as long as 19 cycles and most studies showed that continuation of Pembrolizumab after initial treatment of diabetes ketoacidosis was still possible with initiation of basal-bolus insulin regimen since stopping Pembrolizumab in the setting of advanced malignancies, where only a few treatment options are available, is not always possible, and the overall prognosis of malignancies treated with Pembrulizumab did not seem to change even if they develop endocrinopathies. Hence, an informed decision by the patient with a transparent and collaborative effort between healthcare providers is of utmost importance, zeroing in on the risks and benefits of continued treatment.

A Case of Pembrolizumab-Induced Diabetic Ketoacidosis in a Patient with Non-Small Cell Lung Carcinoma: Understanding the Basics of What We Should Know

Background: Diabetes insipidus, now called arginine vasopressin deficiency, is an uncommon endocrine disorder characterized by abnormality in antidiuretic hormone (ADH). It is either due to insufficiency in ADH or decreased peripheral response to normal levels of ADH. It commonly manifest as polyuria and polydipsia. There have been very few cases reported in medical literature highlighting the correlation between untreated common variable immunodeficiency (CVID) and arginine vasopressin deficiency (AVPD). Here we present a case of AVP-D in patient with established but untreated CVID

Case description: A male in his mid-fifties presented with altered mental status and was found to have sepsis secondary to community acquired pneumonia. Additionally, he complained of significant thirst and large amounts urine output which has been ongoing for four months but was not adequately addressed. His urine output was noted to be 7.2 Liters in 24 hours with an inappropriately low urine osmolality in the setting of hypernatremia as documented below. This raised the suspicion for ADH imbalance which led us to pursue water deprivation test.
It revealed minimal change in urine output and osmolality. This further led us to perform a desmopressin challenge test. We administered 4 mcg of desmopressin (DDAVP) subcutaneously which resulted in an appropriate decrease in urine output in addition to increase in urine osmolality (A Delta of 40 mOsm/kg representing >50% increase in urine osmolality). This was consistent with central AVPD. He was started on DDAVP and immunoglobulin replacement therapy.

Discussion: CVID is a hereditary hypogammaglobulinemia with reported 20% of patients with concomitant autoimmune endocrine disorders. Untreated CVID leads to the involvement of multiple organ systems, as was the case with our patient who had features of CVID enteropathy, CVID granulomatous Interstitial lung disease, and now ADH imbalance emphasizing the condition's diverse manifestation. This correlation is poorly understood but is hypothesized to be linked to lymphocytic neurohypophysitis. Hence more in-depth research needs to be done into ADH imbalance in patients with CVID particularly if untreated. This case underscores the necessity of maintaining a high suspicion for AVP-D in patients with CVID to prevent debilitating yet reversible complications. Early recognition and appropriate replacement therapy are essential in improving patient outcomes and quality of life.


Arginine Vasopressin Deficiency in Patient with Untreated Common Variable Immunodeficiency - An Uncommon Manifestation

Background: Tirzepatide is a dual incretin (GLP-1 and GIP) receptor agonist approved for Type 2 Diabetes Mellitus (T2DM) and chronic weight management with significant cardiovascular and renal benefits. Gastrointestinal discomfort is the most commonly reported adverse effect with this drug, with uncommon occurence of acute kidney injury, gall bladder disease and pancreatitis. We present 2 cases to report the occurrence of diabetic ketoacidosis (DKA) in T2DM patients and its noteworthy temporal association with Tirzepatide, the first clinical encounter of its kind. The purpose of this case report is to document a potential adverse outcome associated with this drug that mandates further research.

Case presentation: 
Case 1- A 35 year old,female, BMI-36.92, with T2DM since 4 years, presented with severe nausea, vomiting and abdominal pain one week following increase in the dose of Tirzepatide. The patient had a prior episode of DKA which led to hospitalization within a week of her first Tirzepatide injection 2 months back. Initial investigation upon admission was consistent with euglycemic DKA- pH-7.31, HCO3-9.9, blood glucose-178, beta-hydroxybutyrate-13.5, anion gap-31, C-peptide-3.6 and GAD antibody <5.

Case 2- A 46 year old male, BMI-31.93, with T2DM since 23 years, presented with severe nausea and vomiting that developed after he took his dose of Tirzepatide the previous day. He had been on this drug for about 6 months and reported persistent GI discomfort that he associates with this medication. Initial investigation was consistent with the diagnosis of DKA-blood glucose-507, betahydroxybutyrate -7.7, pH -7.44, HCO3-16.6, anion gap-24, C-peptide-2.8 and GAD antibody <5.

Other possible triggers for DKA including infection, trauma, alcohol use and withdrawal were ruled out in both the cases through history and labs. Both the patients were hospitalized and managed with DKA protocol in the ICU.

Discussion:
The aforementioned cases illustrate a rare but notable risk of DKA with either hyperglycemia and euglycemia in patients on Tirzepatide. This has not been observed previously. One plausible explanation is that significant reduction in calorie intake due to Tirzepatide can potentially trigger starvation ketoacidosis. Another concern is the potential for Tirzepatide to unmask ketosis-prone diabetes in individuals who are not phenotypically T1DM characterized by absolute insulin deficiency. This case report emphasizes the importance of recognizing this rare complication in patients prescribed this increasingly used drug.

Diabetic Ketoacidosis (DKA) in type 2 Diabetes Mellitus (T2DM): Is Tirzepatide the Culprit?

Background: Catecholamine-secreting tumors are neuroendocrine tumors classified as intra- or extra-adrenal. Extra-adrenal paragangliomas are rarer and more often multifocal, recurrent, and metastatic, which is consistent with our patient’s presentation. Paragangliomas also have a 60% malignancy rate compared to the 25% rate of adrenal pheochromocytomas. The Journal of Clinical Endocrinology and Metabolism (JCEM) determined that infra-diaphragmatic paraaortic paragangliomas have higher rates of metastasis compared to those in other locations. Surgical resection of metastatic disease depends on extent of metastasis and long-term goals of treatment. Adjuvant therapies such as chemotherapy, radiation, or targeted therapies should be considered to decrease disease recurrence and/or manage residual disease. 
Case Presentation: An elderly 68-year-old man presented with progressive lethargy, uncontrollable sleepiness, forceful vomiting, and wheezing. Upon admission, he was found to have hypertensive urgency, with a blood pressure of 187/110 and tachycardia. EKG revealed prolonged QTc. His labs showed elevated TSH, free T4, creatinine kinase, blood glucose, and leukocytosis. His urinalysis showed glucose above a thousand and an elevated specific gravity. His blood pressure and blood glucose remained elevated, requiring an increase in home metoprolol dose and the addition of amlodipine and hydralazine. Throughout admission, he was pale, and complained of overnight heat intolerance, diaphoresis, and anxiety regarding his hospitalization. A CT scan of the abdomen and pelvis with contrast revealed a 5.9 cm x 5.6 cm x 7.9 cm left para-aortic/retroperitoneal mass with central necrosis, most likely representing a paraganglioma. Bilateral pulmonary nodules and an 8 mm enhancing focus in the liver concerning for metastasis were also noted. Plasma and 24-hour urine normetanephrines were elevated at 16.25 and 10,904, respectively. Urine normetanephrine to creatine ratio was elevated at 4,948. The patient declined IR-guided biopsy. 
Discussion: For patients like this with extensive metastatic disease, excision is mostly a debulking procedure used to resolve the immediate symptoms and does not prevent recurrence or metastasis to other sites in the future. A retrospective analysis was conducted between 1995 and 2020 on patients who underwent resection of their paragangliomas, went into remission, and then had recurrence, defined as local or distant metastasis. The recurrence rate for paragangliomas was approximately 6.5-17.4% after initial surgery.  Long-term surveillance is necessary to monitor for disease recurrence or progression. 



Malignant Paraganglioma: Long-term Considerations and Interventions

Background
•Dulaglutide is a GLP-1 receptor agonist (GLP-1 RA), a second-line agent used after metformin in individuals with Type 2 Diabetes Mellitus (Type 2 DM) for glycemic control.1
•In diabetic patients, weight loss reduces total mortality by 25% compared to those who do not lose weight, making it crucial in diabetic management. 2
•A meta-analysis showed that dulaglutide significantly reduced waist circumference, body weight, and BMI in Type 2 DM patients compared to placebo.3
•However, the applicability of dulaglutide for weight management is poorly explored for challenging patient profiles like morbidly obese patients with multiple comorbidities and concomitant antipsychotic use. 4

Case presentation
•We present a case of a 27-year-old ex-sumo wrestler with bipolar II disorder, morbid obesity, hypertension, and Type 2 DM, and a BMI of 49.66 kg/m².
•He was non-compliant with lifestyle modifications and resistant to conventional treatments, including metformin, and was also using multiple antipsychotic drugs. 
•After six months on dulaglutide, his daily calorie intake significantly decreased from 6924 to 2538, resulting in a 40 kg weight loss (-21%) and a BMI reduction of 10.3 kg/m² with no side effects and improved glycemic control
This reduction was primarily due to a notable decreased appetite and an increased satiety even after consuming a smaller amount of food. The subjective quantification of hunger and satiety was done using a visual analog scale. 

Discussion
•Dulaglutide, a convenient weekly injectable with strong glycemic efficacy and potential for weight loss, emerges as a promising new GLP-1 RA for the treatment of obesity in patients with multiple comorbidities. 
•The 40 kg weight loss in our patient with dulaglutide is unprecedented and not previously documented. 
•This case supports the argument for dulaglutide’s FDA approval for weight loss, which could expand insurance coverage, reduce the financial burden, and provide an important new option for patients struggling to manage weight.5

Conclusion
This case emphasizes dulaglutide’s efficacy in challenging real-word cases, offering a promising solution for weight management in patients with multifaceted health issues, such as morbid obesity, non-compliance with lifestyle changes, and weight gain associated with antipsychotic use

Transformative Weight Loss with Dulaglutide: A Success in Challenging Patient Profile of an Ex-sumo

This report describes the case of an 85-year-old male with abdominal pain and signs of diverticulitis on physical examination and laboratory results. CT imaging initially demonstrated equivocal findings non-concerning for inflammation. Re-evaluation led to finding of diverticulitis with formation of an intrabdominal abscess. Being aware of atypical presentations of diverticulitis may help lead to timely intervention in the setting of potential misinterpretation of imaging results. 


An Unusual Presentation of Complicated Diverticulitis

Abstract Title
Beautiful, sweet-smelling, and poisoning: A rare case of Lily of the Valley intoxication

Background
We are presenting a Lily Of The Valley (Convallaria Majalis) poisoning case that we encountered in our clinic. This is a rare intoxication; few cases have been reported in the literature, mainly for accidental ingestion. 

Case Presentation
A 34-year-old Female with a PMH of anemia and anxiety presented at our FM Clinic complaining of nausea, multiple episodes of NBNB vomiting, dizziness, and weakness. Symptoms started two hours before her presentation to the clinic. The patient said she was hiking in upstate New York and picked up two stalks of an unknown plant. The morning of her presentation she mixed the plant with breakfast and ingested it along with her boyfriend. After one hour, she started feeling numbness in her tongue and thereafter started the nausea followed by vomiting six times. Her boyfriend also presented the same symptoms. The patient denied smoking, alcohol intake, or recreational drug use. On arrival at the clinic, her vital signs were T 97.8, HR 62 bpm, BP 77/49 mmHg, RR 18, SpO2 100% on RA. The cardiovascular system was remarkable for severe hypotension and sinus bradycardia. The Poison Control Center was contacted and confirmed from the description and picture identification that the plant was likely the Lily of the Valley. The patient was transferred to the ED, and her boyfriend was also contacted to come. ECG done showed normal sinus rhythm. Labs were remarkable for hypoglycemia (FS 57). CBC with neutrophilia 82.6%, VBG: pH 7.30. Digoxin levels <0.2. The drug screen was negative. The patient was on the cardiac monitor for two hours, had no more episodes of emesis, and was no longer nauseous or dizzy. Repeat a set of Vitals: T 98.8, HR 55 BP 95/54 mmHg, MAP 62, SpO2 94% on RA. She left against medical advice. 

Discussion
Convallaria majalis (Lily of the Valley) is one of the world's most poisonous plants. Cases of human poisoning are rare. The principal component of glycosides is convallatoxin. Manifestations of this poisoning are similar to those seen in digitalis intoxication in the elderly: digestive disorders, bradycardia, imbalance in the BP, and arrhythmias. The toxicity mechanisms are identical to those of digitalis. The patient presented in this case had bradycardia and severe hypotension, but because her partner was also presenting the same symptoms, it brought the suspicion of an intoxication.

Beautiful, sweet-smelling, and poisoning: A rare case of Lily of the Valley intoxication

Title: Effective Management of Pediatric Autoimmune Neuropsychiatric Disorders
Associated with Streptococcal Infections (PANDAS) in a 15-Year-Old Girl: A Case Report
Authors: Varsha Kakani MBBS, Dwija Rajguru, Meet Singh MBBS
Keywords: Neuropsychiatric symptoms, Streptococcal infection, Antibiotics, Corticosteroids, SSRI
Background & Introduction: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) is characterized by sudden onset obsessive-compulsive behavior, tics, and various behavioral issues in children with a history of streptococcal infections. Symptoms include personality changes, cognitive decline, motor disturbances, sensory sensitivity, behavioral changes, and psychosis. Linked to repeated streptococcal infections, PANDAS affects children aged 3 to 12 years, with an incidence of 1 per thousand. The disorder results from molecular mimicry, leading to the production of cross-reactive antibodies that can cross the blood-brain barrier and bind to neuronal antigens like lysoganglioside, dopamine receptors, and CAMK II (calcium/calmodulin-dependent protein kinase II), particularly in the basal ganglia, triggering rapid onset obsessive-compulsive symptoms. Diagnosis and followup relies on elevated Anti-streptolysin O [ASO] or Anti-DNAse B titers. Treatment involves antibiotics, corticosteroids, and SSRIs to prevent persistent symptoms into adulthood.
Case Report: A 15-year-old Puerto Rican girl presented with altered behavior over three weeks, including visual, auditory, and tactile hallucinations, discomfort from seeing numbers shake in class, nausea when looking at certain numbers and letters, and distortions in her reflection. She also experienced eye blinking tics, crawling sensations, significant anxiety, social isolation, and prolonged showers. Despite these symptoms, her sleep and appetite were undisturbed. Her father reported multiple streptococcal throat infections, decreasing after a tonsillectomy at age 10. Recent sore throat symptoms resolved with over-the-counter analgesics.
Elevated Anti-DNAse B antibodies (1070 U/ml) and ASO titers (342.1 IU/ml) suggested PANDAS. She was initially treated with Clindamycin due to a penicillin allergy but showed no improvement. The treatment was then switched to Azithromycin, which led to partial improvement. Subsequent treatment with methylprednisolone, naproxen, and sertraline significantly reduced her symptoms within one week, allowing her to refocus on schoolwork. Follow-up ASO titers decreased to 306.8 U/ml.
Discussion: This case highlights the diagnostic challenges and therapeutic response in suspected PANDAS. The acute onset of neuropsychiatric symptoms, along with elevated streptococcal antibodies, supported the diagnosis. Initial antibiotics provided partial relief, but significant improvement was achieved with corticosteroids and SSRIs, underscoring the benefit of integrated treatment.
Conclusion: PANDAS should be considered in pediatric patients with acute neuropsychiatric symptoms and a history of streptococcal infections. Early recognition and combined antibiotic, corticosteroid, and
SSRI therapy can effectively manage PANDAS symptoms.


Effective Management of Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (Pandas) in a 15-year-old girl: A Case Report

Background :
Sickle cell disease (SCD) is the most common hemoglobin anomaly in the United States and has numerous complications. Intravenous (IV ) fluid hydration is a principal element in the management of pain crisis. Intravenous hydration is commonly used in the treatment of vasoocclusive crises , as dehydration promotes erythrocyte sickling. Potential complications of continuous fluid replenishment include weight gain, heart failure, pulmonary edema and lower extremity edema.

Case Presentation :
This is a case of a 25-year-old female with a past history of SCD who was admitted for an acute pain crisis. Her symptoms of generalized myopathy was precipitated after drinking 2 bottles of beer. On presentation, her vitals were T 97.5 F ,BP 104/75, HR 124, RR 27, SpO2 100% on room air. Blood alcohol level was 180, reticulocyte count 15.6, urine screen was positive for alcohol and THC, hemoglobin and hematocrit were 8.9 & 25.6. She received a bolus of normal saline (NS)
and was started on D5W 0.3%NS. Her pain was controlled with a multimodal approach using NSAIDS, heat patches, Duloxetine and a Hydromorphone PCA pump. Due to poor oral intake, she continued to be on maintenance IV fluids. On day 7 of admission, the patient reported chest pain with BP 88/53,HR 109, RR 28, sPO2 88%at room air. Chest x-ray revealed bilateral perihilar and basilar alveolar opacities with obscured hemidiaphragms, costophrenic sulci and portions of heart borders, which were new findings. Troponins drawn eight hours apart read 345> 408>160 respectively. The patient was started on Levofloxacin due to allergies to other antibiotics. An exchange transfusion improved her symptoms.

Discussion :
Alcohol is a diuretic that can worsen volume status and cause dehydration thereby promoting sickle cell clumping and triggering a crisis. ACS is a form of acute lung injury defined by new pulmonary findings on chest x-ray combined with ≥ 1 manifestation such as cough, fever, chest pain, tachypnea, dyspnea, sputum production, or new-onset hypoxia. The vital signs and new radiologic findings due to volume overload IV fluids were consistent with ACS. Prolonged periods and insufficient monitoring of hydration status could lead to complications of
hyperhydration that could present as an ACS. There are currently no guidelines for fluid replacement in patients with SCD. Taking this into account , the provider should guide clinical decision on choice and duration hydration. Improving the awareness of this potential effect among health care providers would also prevent complications.

Iatrogenic Acute Chest Syndrome in a Patient with Sickle Cell Disease.

Background: Non-alcoholic Fatty Liver Disease (NAFLD), recently renamed Metabolic dysfunction-associated Steatotic Liver Disease (MASLD), is the leading cause of chronic liver disease, contributing significantly to liver-related morbidity and mortality. Evidence indicates that lean individuals exhibit a higher rate of disease progression, liver fibrosis, cardiovascular morbidity, and all-cause mortality in advanced stages compared to obese individuals. Genetic factors significantly influence the prevalence of MASLD. This clinical scenario highlights a unique case of a lean patient with metabolic syndrome and hepatic steatosis, absent hepatic lesions.
Case Presentation: An Asian female in her mid-50s, weighing 124 lb, visited her Primary Care Physician (PCP) with complaints of right upper quadrant abdominal pain and bloating after consuming a high-fat diet. She had no vomiting or diarrhea history but reported occasional constipation and elevated systolic blood pressure. Laboratory results indicated borderline elevated HbA1C, high triglycerides, and cholesterol levels. Comprehensive testing, including SIBO, stool tests, H. pylori, anti-HbC, and pancreatic elastase 1, alongside upper and lower GI endoscopy, ultrasonography with elastography, abdominal X-ray, and CT scan, were conducted. Initially misdiagnosed with Functional Bowel Disorder, the patient received treatments for elevated triglycerides, cholesterol, blood glucose, and gastrointestinal (GI) symptoms. After four years of persistent GI symptoms, further diagnostics led to a diagnosis of Lean MASLD with hepatic steatosis but no hepatic lesions.
Discussion This case underscores that individuals with a normal BMI can still have abnormal metabolism, hepatic steatosis, and steatohepatitis. Preventing disease progression in such patients is crucial. Despite the rising prevalence and burden of MASLD, effective pharmacotherapy remains limited and evolving. Current treatments focus on addressing metabolic syndrome and promoting weight loss. Evidence supports a weight loss regimen involving a low-carbohydrate, hypocaloric diet aiming for a 30% calorie reduction, or 1200–1500 kcal/day, or a 500–1000 kcal/day reduction from baseline. For lean patients, the goal should be a hypocaloric diet combined with aerobic exercise. The case highlights an opportunity to enhance PCP awareness regarding MASLD, given the initial misdiagnosis of Functional Bowel Disorder. As PCPs and endocrinologists often serve as the first point of contact for MASLD patients in the US, they need to be well-versed in clinical care pathways and evidence-based guidelines to ensure accurate screening, diagnosis, initial management, and timely referrals for at-risk patients.





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