Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.

BACKGROUND AND AIMS: Dyskeratosis congenita (DC) and related telomere biology disorders (TBD) are characterized by very short telomeres and multisystem organ involvement including liver disease. Our study aimed to characterize baseline hepatic abnormalities in patients with DC/TBD and determine risk factors associated with liver disease progression. APPROACH AND RESULTS: A retrospective review was performed on a cohort of 58 patients (39 males) with DC/TBD who were prospectively evaluated at a single institute from 2002 to 2019. The median age at initial assessment was 18 (1.4-67.6) years, and median follow-up duration was 6 (1.4-8.2) years. Patients with autosomal or X-linked recessive inheritance and those with heterozygous TINF2 DC were significantly younger, predominantly male, and more likely to have DC-associated mucocutaneous triad features and severe bone marrow failure compared with autosomal dominant-non- TINF2 DC/TBD patients. Liver abnormality (defined at baseline assessment by laboratory and/or radiological findings) was present in 72.4% of patients with predominantly cholestatic pattern of liver enzyme elevation. Clinically significant liver disease and portal hypertension developed in 17.2% of patients during the 6-year follow-up; this progression was mainly seen in patients with recessive or TINF2 -associated DC. Significant risk factors associated with progression included the presence of pulmonary or vascular disease. CONCLUSIONS: Our experience shows a high prevalence of cholestatic pattern of liver abnormality with progression to portal hypertension in patients with DC/TBD. Presence of pulmonary and/or vascular disease in patients with recessive or TINF2 DC was an important predictor of liver disease progression, suggesting the need for increased vigilance and monitoring for complications in these patients.

Hemosuccus Pancreaticus: A Serious Complication of Chronic Pancreatitis.

Hemosuccus pancreaticus is a rare cause of gastrointestinal bleeding that usually presents with melena and abdominal pain. It is defined as a hemorrhage from the ampulla of Vater passing through the main pancreatic duct toward the second portion of the duodenum. Imaging is usually required to establish a diagnosis, and angiography continues to be the gold standard for both treatment and diagnosis. In some instances where bleeding is uncontrolled or if the patient is unstable, surgery may be required. Physicians should have a high index of suspicion, especially in patients with a history of chronic pancreatitis, as this diagnosis is associated with a very high mortality rate if left untreated. We report a case of a 67-year-old male with a known history of chronic pancreatitis and pancreatic pseudocyst who presented with melena and right upper quadrant abdominal pain and was found to have hemosuccus pancreaticus secondary to a gastroduodenal artery bleed. He underwent successful angiographic embolization and was discharged home after ensuring resolution of bleed and improvement in symptoms.

Cardiac sarcoidosis masquerading as arrhythmogenic right ventricular cardiomyopathy: a case report.

BACKGROUND: Cardiac sarcoidosis (CS) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are rare causes of ventricular arrhythmias and are associated with sudden cardiac death. Differentiation between both is important for proper management. CASE SUMMARY: We present a 56-year-old man with sudden cardiac arrest and was diagnosed to have ARVC based on cardiac magnetic resonance imaging (MRI). He developed gradually worsening shortness of breath over the next 1 year. CS was unmasked after a cardiac positron emission tomography (PET). Patient was treated with methotrexate. A repeat cardiac PET scan showed improvement. DISCUSSION: The distinction between ARVC and CS is challenging. Both these entities have a patchy involvement and can have similar presentations. ARVC has a predominant right heart involvement. It is diagnosed with the help of an MRI, which shows regional right ventricular wall motion abnormality. These findings can have an overlap with CS. It is important to note that, even though sarcoidosis is a pathologic diagnosis, cardiac biopsy is rarely done owing to its patchy involvement. Cardiac PET scan has a high sensitivity and specificity to diagnose this entity. Once diagnosis is made, patients should be treated with immunosuppressants and should be closely followed. Repeat imaging should be considered at intervals to monitor disease progression. This case highlights the importance of multimodality imaging and tissue diagnosis to unmask the diagnosis of CS, a treatable infiltrative disorder which shares features with a potentially untreatable ARVC.

Hemorrhagic pancreatic pseudocyst: A rare complication.

Pancreatic pseudocysts are seen both in acute and chronic pancreatitis. Prevalence of pancreatic pseudocyst in chronic pancreatitis is 20% to 40% and is most commonly seen in alcoholic chronic pancreatitis. Intracystic hemorrhage from a pseudoaneurysm is a rare and potentially a lethal complication of pancreatic pseudocyst with an incidence of less than 10%. We herein present a case of a 42-year-old male with a past medical history of chronic alcoholic pancreatitis, stable pseudocyst in the tail of pancreas, alcohol abuse and seizures who presented with abdominal pain and acute anemia had this rare complication of hemorrhagic pseudocyst. The diagnostic modalities used to diagnose hemorrhagic pseudocyst are ultrasound with color doppler, CT with contrast, digital subtraction angiography and angiography. Angiographic embolization of the culprit artery is the preferred treatment of choice in the treatment of pseudoaneurysms. It is important for early recognition and treatment of this complication as the mortality can be as high as 40%.

Appendiceal sarcoidosis presenting as acute appendicitis.

Sarcoidosis is a chronic inflammatory multisystem disease. The stomach is the most commonly involved gastrointestinal organ. Symptomatic appendicular sarcoidosis is extremely rare. We present a case of a 49-year-old woman with abdominal pain. An ultrasound of the abdomen was suggestive of acute appendicitis. Laparoscopic appendectomy was performed and the pathology revealed nonnecrotizing granulomas. Biopsy of the mediastinal lymph nodes suggested noncaseating granulomas. She was treated with steroid therapy followed by mycophenolate mofetil. Our case demonstrates the importance of considering appendiceal sarcoid among the differentials in a patient with systemic sarcoidosis presenting with an acute abdomen.

Acute on Chronic Immune Thrombocytopenia as a Cause of Thrombocytopenia in Sepsis.

Immune thrombocytopenia (ITP) is a diagnosis of exclusion and can be challenging at times to make the diagnosis. We herein present a case of a 73-year-old male with a history of chronic ITP, who presented to the hospital with sepsis and developed thrombocytopenia. His thrombocytopenia did not improve with resolution of sepsis but improved with ITP treatment including immunoglobulins and steroids. Platelet-associated IgG antibody levels are inversely proportional to platelet counts. The antibody levels are increased in sepsis. We would like to highlight that other causes of thrombocytopenia should also be considered in sepsis.

Case series and review of liver dysfunction in COVID-19 patients.

Coronoviraus disease 2019 (COVID-19) has infected over two million people worldwide and the number keeps growing every day. While the pulmonary complications of COVID-19 are obvious, the effect of the virus on the other organs and the chronicity of the organ dysfunction remain unknown. The virus causes a debilitating infection with multiorgan injury and has a high mortality rate estimated to be around 3.70%. Several hypotheses are formulated to explain the liver dysfunction in COVID-19 patients which include collateral damage from cytokine storm, drug-induced liver injury, viral-induced hepatitis and hypoxia-induced damage. Through this case series, we would like to highlight that liver enzyme abnormalities are often seen in COVID-19 patients and would like to highlight that physicians need to serially monitor biochemical testing until the liver enzymes return to baseline. Physicians also need to be vigilant of liver enzyme abnormalities in these patients, especially before starting new medications.

Myxedema ascites complicated by ischemic colitis.

Myxedema Ascites is a rare finding of primary hypothyroidism, thereby leading to delayed diagnosis. However, prompt treatment with levothyroxine leads to complete resolution of the condition. We present a rare case of myxedema ascites in an elderly female and highlight the importance of early diagnosis and management. We also present ischemic colitis in the same patient, which has not been reported thus far in literature as a complication of myxedema ascites.

Methemoglobinemia: A Life-threatening Complication of Topical Pharyngeal Anesthetics.

Drug-induced methemoglobinemia can be caused due to topical anesthetics, dapsone, nitrates (e.g., nitroglycerin), and metoclopramide. Cyanosis in the setting of topical anesthetic use, along with the arterial blood gas results indicating hypoxemia, points towards the diagnosis of methemoglobinemia. We highlight the potential complication with the use of topical pharyngeal benzocaine through this case presentation.

Emphysematous Gastritis: A Real Indication for Emergent Surgical Intervention?

Emphysematous gastritis is a rare disease with gastric inflammation and intramural gas formation due to gas-forming microorganisms. It is diagnosed based on clinical presentation and imaging findings of gas in the gastric wall. Computed tomography is the preferred imaging modality. Early diagnosis and management are important since emphysematous gastritis is associated with high rates of morbidity and mortality. We present a case of emphysematous gastritis, which was successfully managed conservatively through early diagnosis and prompt treatment.

Case Report: A Polymicrobial Vision-Threatening Eye Infection Associated with Polysubstance Abuse.

We report a patient with risk factors for both microbial keratitis and endophthalmitis, which were initially challenging to distinguish. Cultures of corneal scrapings yielded several organisms, including an uncultivable Gram-negative rod, eventually identified as Kingella negevensis. Kingella negevensis is so named because most strains have been isolated in the Negev, a desert region of southern Israel. The epidemiology of K. negevensis remains incompletely understood. We found no other reports in the literature of this organism causing microbial keratitis.

Patient Satisfaction and Understanding of Moderate Sedation During Endoscopy.

Millions of endoscopic procedures are performed in the US every year and the use of procedural sedation analgesia (PSA) is increasing with more procedures being performed outside the operating theater and gaining popularity due to reduced costs. Patients having endoscopic procedures usually expect that they would be deeply sedated during the procedure despite verbal counseling during pre-procedure clinic visits and are often dissatisfied with procedural awareness and discomfort. In order to better educate patients, written supplementary reading material was provided to the patients, which stated a clear goal of comfort during the procedure rather than deep sedation. The results showed that the written supplementary material did not improve the patient's understanding or remembrance of being counseled about moderate sedation. We emphasize that there is no substitute for a physician's repetitive verbal counseling.

A Therapeutic Approach to Cecal Varices.

Ectopic varices account for 1%-5% of all variceal bleeding episodes. The most common presentation of cecal varices is an acute episode of a massive lower gastrointestinal hemorrhage. However, cecal varices can be found incidentally and can be silent for a prolonged period of time before presenting with a massive gastrointestinal hemorrhage. Through this case of a 63-year-old woman, we would like to highlight the paucity of literature in the treatment of nonbleeding cecal varices.

ST segment elevation in an adult chest pain patient: A case of coronary artery vasospasm.

Chest pain is one of the most common symptoms of patients presenting to the emergency department (ED) in the United States, accounting for up to eight million cases annually. We present a 55-year-old male who was brought in to the ED with sudden onset chest pain and was found to have ST-segment elevations in the infero-lateral leads on electrocardiogram (ECG). These changes resolved with nitroglycerin. Coronary artery vasospasm was diagnosed as coronary angiogram was normal. Calcium channel blocker was prescribed with good symptom relief. The most important teaching point is, coronary vasospasm as a cause of ST-segment elevation is missed frequently and should be considered among the differentials in patients presenting with chest pain. Nitrates and/or calcium channel blockers along with avoidance of triggers can help in symptom management.

A Mysterious Case of Recurrent Acute Hyperammonemic Encephalopathy.

Ammonia is a well-recognized neurotoxin. Awareness about hyperammonemia, in the absence of liver cirrhosis, may help in lifesaving, prompt diagnosis, and treatment. We present a case of a 53-year-old male who presented to the emergency department (ED) with altered mental status (AMS). He was unresponsive with occasional eye opening. Initial labs were normal except for mildly elevated blood alcohol level. Serum ammonia levels were very high (305 umol/L). He improved with lactulose. He had similar admissions later on. Urine orotic acid levels were high confirming ornithine transcarbamylase (OTC) deficiency. Noncirrhotic hyperammonemia as a cause of AMS remains a diagnosis of exclusion requiring high index suspicion. Very few cases of late inborn errors of urea cycle disorders (UCDs) have been reported in the literature. Our case highlights the importance of early diagnosis of UCDs and that outcome can be excellent if treated aggressively. Once identified, adult-onset forms of the UCDs have a good prognosis-largely due to the initiation of preventative measures and earlier recognition of exacerbations.

Bouveret syndrome as a rare cause of gastric outlet obstruction.

Biliary-enteric fistula is a rare complication of cholelithiasis that can lead to gallstone ileus. Gallstone impaction in the duodenum and pylorus is extremely rare and can lead to gastric outlet obstruction, a condition known as Bouveret syndrome. Bouveret syndrome needs to be diagnosed and managed in a timely fashion, as it has a high mortality rate. We describe a case of an elderly patient who presented with Bouveret syndrome secondary to impaction of the biliary calculus in the first part of duodenum.

Black speckled duodenal mucosa.

Pseudomelanosis duodeni is a rare incidental finding seen on endoscopy and has the characteristic appearance of flat, black-speckled pigmented mucosa. We present the case of an 83-year-old woman who presented with gastrointestinal bleeding and was found to have pseudomelanosis duodeni. The finding has no diagnostic or prognostic significance. Therapeutic chelation or endoscopic follow-up is not recommended.

Outcomes of Upper Gastrointestinal Bleeding Based on Time to Endoscopy: A Retrospective Study.

Introduction Non-variceal upper gastrointestinal bleeding (UGIB) is a major burden on the health care system. The timing of endoscopy has been an ongoing debate and data on the association of early endoscopy with a better or worse clinical outcome are conflicting. In our study, we aimed to identify the benefits versus the risks of performing an urgent endoscopy in regards to the number of endoscopic interventions, length of hospital stay, number of packed red blood cells (PRBCs) transfused, and mortality.  Methodology This is a retrospective record-based study. A total of 806 charts were reviewed and 251 patients with the signs and symptoms of UGIB on presentation were included in the study. Patients with variceal bleeding, lower gastrointestinal bleeding, insignificant bleeds with no drop in H/H, GI bleed not being the presenting complaint on admission, and patients on anticoagulation were excluded. Results Out of the patients who underwent an urgent esophagogastroduodenoscopy (EGD), 26.2% needed a second-look EGD 48 hours after the first EGD when compared to 4% and 2% in the early (12-24 hours) and late (>24 hours) endoscopy groups, respectively. In patients who underwent urgent EGD, 23% had active bleeding and it was statistically significant when compared to the other groups. The active bleeding limited the visualization during the endoscopy, which led to a repeat EGD in the urgent EGD group. If an endoscopic intervention was received, patients having EGD >24 hours received a smaller number of interventions. There was no statistical difference in the Blatchford scores between the three groups, indicating that the groups were similar in morbidity. No difference in mortality, hospital length of stay, or number of blood transfusions received, surgical or interventional radiology-guided interventions was found between the three groups. Conclusion Patients who underwent urgent endoscopy had more procedures, with no difference in mortality, number of units of blood transfused, or length of hospitalization when compared to the early or late endoscopy groups.

Rare Complication of Interventional Radiology-guided Arterial Embolization of the Gastroduodenal Artery in the Setting of Acute Gastrointestinal Bleed: Migrated Coils in the Duodenum.

A 91-year-old male presented to the emergency room with hemodynamically significant upper gastrointestinal bleeding. The patient underwent an esophagogastroduodenoscopy (EGD), which showed frank blood in the duodenum interfering with the visualization. Hence, the patient underwent urgent interventional radiology (IR)-guided arteriogram and embolization. An EGD done 48 hours later showed a giant, non-bleeding, cratered duodenal ulcer with a visible vessel and vascular coils partially protruding into the duodenal bulb lumen. The patient had no evidence of bleeding post embolization. The patient presented three months later with abdominal pain. Computed tomography (CT) abdomen showed multiple liver abscesses. IR-guided drainage of abscesses was performed, and the culture grew Streptococcus intermedius. Magnetic resonance cholangiopancreatography (MRCP), endoscopic retrograde cholangiopancreatography (ERCP), and barium enema were unremarkable. The patient was treated with a prolonged course of intravenous (IV) antibiotics and recovered without any further issues. IR guided arterial embolization can be lifesaving in cases where GI bleeding cannot be controlled endoscopically, however, it can lead to serious complications, including endovascular coil migration into the gastrointestinal (GI) lumen causing infection and re-bleeding. Endovascular coil migration can occur immediately or several years later, which can result in fatal bleeding and infection. The best approach to prevent and manage migrated endovascular coils in the GI lumen remains unclear.