Extrapulmonary Symptoms Research Articles

Zakażenia układu oddechowego o etiologii atypowej

The frequency of respiratory infections, especially atypical pneumonia, is increasing significantly. Most often, atypical pneumonia is caused by Mycoplasma pneumoniae and Chlamydophila pneumoniae. Human is the only reservoir of these atypical bacteria. The infection occurs via droplets or direct contact with a sick person or convalescent. Pneumonia of the etiology of Mycoplasma pneumoniae and Chlamydophila pneumoniae most often affects children without comorbidities and is usually mild, while most patients with Legionella infection require intensive care treatment. Symptoms of mycoplasma infection can range from mild symptoms in the upper respiratory tract to pneumonia and extrapulmonary symptoms. The infection is often underdiagnosed, and patients usually do not seek medical attention and treatment. Chlamydial pneumonia is, in most cases, mild, similar to Mycoplasma pneumoniae, and tends to heal itself. The drugs of choice in the treatment of atypical pneumonia are macrolides, and because of the best compliance in children – azithromycin.

Evaluation of Diarrhea in Patients with COVID-19

Background/Aims: The COVID-19 disease, which was declared epidemic by the WHO, is a global emergency public health problem. Patients with extrapulmonary symptoms are the group of patients who should be considered for person-to-person transmission in the community. In our study, it was aimed to investigate the characteristics of patients with COVID-19-related diarrhea symptoms. Materials and Methods: The study was conducted retrospectively in CO­VID-19 rtRT-PCR-positive patients in 5 medical centers. Three or more loose/liquid stools per day or increased number of defecations compared to normal defecation were defined as diarrhea. The patients were analyzed in 2 groups as those with and without diarrhea. Results: One thousand eighty-six patients were included in the study. Seventy-eight (7.2%) of the patients had diarrhea. Diarrhea was watery in 54 (69.2%) patients while with blood and mucus in 18 (23.1%) patients. Diarrhea continued for an average of 5.2 ± 1.6 (2–11) days. The clinical and laboratory findings of patients with diarrhea were more serious than those without diarrhea. Diarrhea is more common in the elderly and people with comorbid disease, and patients with diarrhea had higher CMI score and CRP and higher complaints of fever, cough, shortness of breath, myalgia, and fatigue. Conclusions: The presence of diarrhea should indicate a suspected COVID-19 infection and suggest testing for early diagnosis of the disease. It should be kept in mind that the course of the disease may be more severe in these patients, and precautions should also be taken in terms of fecal transmission during discharge.

Neurological symptoms in Covid-19 patients in the emergency department.

BackgroundCoronavirus disease 2019 (Covid‐19) might present neurological symptoms. We aimed to evaluate the frequency of them at the moment of emergency department (ED) visit and their impact in the prognosis.MethodsRetrospective cohort study including all consecutive hospitalized cases between March 8th and April 11th, 2020. Covid‐19 diagnosis was confirmed by polymerase chain reaction test and/or serology. We compared, in patients with and without neurological symptoms on admission, demographic, clinical presentation, and frequency and type of abnormal laboratory values. We analyzed the variables that were associated with in‐hospital all‐cause mortality by Cox‐regression log‐rank test.ResultsWe included 576 hospitalized patients, 250 (43.3%) female, aged 67.2 years. At the moment of ED visit, 320 (55.6%) described neurological symptoms, including anosmia (146, 25.3%), myalgia (139, 24.1%), headache (137, 23.8%), and altered mental status (98, 17.0%). Neurological symptoms started the first symptomatic day in 198 (54.2%) cases. Patients with neurological symptoms presented later to the ED (7.9 versus. 6.6 days, p = .019). Only four (0.6%) cases had no typical Covid‐19 general symptoms, and only six (1.9%) had a normal laboratory results, for a sensitivity of 98.7% (95% confidence interval (CI): 96.6%–99.6%) and 98.1% (95% CI: 95.7%–99.2%), respectively. In the multivariate Cox‐regression of mortality predictors, anosmia (HR: 0.358, 95%CI: 0.140–0.916) and altered mental status (HR: 1.867, 95%CI: 1.162–3.001) were significant.ConclusionNeurological symptoms were the most frequent extrapulmonary symptoms. They were present in half of the Covid‐19 patients at the time of the ED visit. Anosmia on admission was an independent predictor of lower in‐hospital mortality and altered mental status on admission predicted in‐hospital mortality.

Digestive system involvement of infections with SARS-CoV-2 and other coronaviruses: Clinical manifestations and potential mechanisms.

Although coronavirus (CoV) infection is often characterized by respiratory symptoms, the virus can also result in extrapulmonary symptoms, especially the symptoms related to the digestive system. The outbreak of coronavirus disease 2019 (COVID-19) is currently the world’s most pressing public health threat and has a significant impact on civil societies and the global economy. The occurrence of digestive symptoms in patients with COVID-19 is closely related to the development and prognosis of the disease. Moreover, thus far, there are no specific antiviral drug or vaccine approved for the treatment or prevention of COVID-19. Therefore, we elaborate on the effects of CoVs on the digestive system and the potential underlying mechanisms.

Intranasal ketorolac, diagnosis, and desensitization for aspirin-exacerbated respiratory disease

BackgroundIntranasal ketorolac has been proposed as a diagnostic test for aspirin-exacerbated respiratory disease (AERD) and a faster, safer, and reliable addition to facilitating aspirin (ASA) desensitization. ObjectiveWe conducted the first prospective study to dissect the impact of intranasal ketorolac incorporation during ASA desensitization vs standard oral protocols in concert with evaluating its diagnostic use for AERD. MethodsPatients with AERD were enrolled in a prospective open-label observational study between November 2006 and August 2013. Participants selected either one of the following desensitization protocols: intranasal ketorolac 1 day before oral ASA (group 1, combined) or ketorolac challenge with greater than 2 weeks elapsing until oral ASA (group 2, washout). All patients were on a leukotriene-modifying drug (montelukast) for at least 1 week before the challenge. ResultsA total of 20 patients were enrolled: 13 in group 1 and 7 in group 2. No significant differences were seen for baseline symptom scores or forced expiratory volume in 1 second. Group 1 exhibited significant increases for the threshold dose of ASA (P = .009), the likelihood of having silent ASA desensitization (P = .01), and decreased reaction severity to oral ASA (P = .04). There were no significant differences in reaction forced expiratory volume in 1 second, the incidence of extrapulmonary symptoms, limited nasoocular reactions, rescue treatment requirements, or time to symptom resolution. There was 100% concordance between reactions to intranasal ketorolac and oral ASA for group 2, supporting its use as a diagnostic test for AERD. ConclusionIntranasal ketorolac is a useful diagnostic test and adjunct within the combined ketorolac/ASA protocol to achieve effective, efficient, and perhaps safer desensitization to ASA for patients with AERD.

Coronavirus Disease (COVID-19): Comprehensive Review of Clinical Presentation.

COVID-19 is a rapidly growing pandemic with its first case identified during December 2019 in Wuhan, Hubei Province, China. Due to the rampant rise in the number of cases in China and globally, WHO declared COVID-19 as a pandemic on 11th March 2020. The disease is transmitted via respiratory droplets of infected patients during coughing or sneezing and affects primarily the lung parenchyma. The spectrum of clinical manifestations can be seen in COVID-19 patients ranging from asymptomatic infections to severe disease resulting in mortality. Although respiratory involvement is most common in COVID-19 patients, the virus can affect other organ systems as well. The systemic inflammation induced by the disease along with multisystem expression of Angiotensin Converting Enzyme 2 (ACE2), a receptor which allows viral entry into cells, explains the manifestation of extra-pulmonary symptoms affecting the gastrointestinal, cardiovascular, hematological, renal, musculoskeletal, and endocrine system. Here, we have reviewed the extensive literature available on COVID-19 about various clinical presentations based on the organ system involved as well as clinical presentation in specific population including children, pregnant women, and immunocompromised patients. We have also briefly discussed about the Multisystemic Inflammatory Syndrome occurring in children and adults with COVID-19. Understanding the various clinical presentations can help clinicians diagnose COVID-19 in an early stage and ensure appropriate measures to be undertaken in order to prevent further spread of the disease.

Legionnaire\u2019s disease presenting as bilateral central scotomata: a case report

BackgroundLegionnaire’s disease is one of the major causes of community-acquired pneumonia and is occasionally complicated by neurological symptoms. However, reports of ocular lesions due to Legionnaire’s disease are limited.Case presentationWe report the case of a patient with Legionnaire’s disease presenting as bilateral central scotomata due to retinal lesions. The patient consulted due to fever and bilateral central scotomata, as well as other extrapulmonary symptoms. Optical coherence tomography (OCT) showed bilateral accumulations of fluid under the retina, and the patient was diagnosed with bilateral exudative retinal detachment. Later, Legionnaire’s disease was confirmed by pulmonary infiltrates on chest imaging and positive urinary antigen for Legionella pneumophila. After administration of antibiotics, the bilateral central scotomata and bilateral subretinal fluid accumulations completely resolved, as did the other extrapulmonary symptoms and the pulmonary infiltrates. Thus, the bilateral central scotomata due to exudative retinal detachment were thought to be caused by Legionnaire’s disease.ConclusionsThis case demonstrates that Legionnaire’s disease can present as bilateral central scotomata. We may consider the possibility of extrapulmonary involvement complicating Legionnaire’s disease when we encounter bilateral ocular lesions in patients with fever and pneumonia.

Çocuklarda COVID-19: İstanbul, Türkiye'den tek merkez deneyimi

Objective: We aimed to evaluate the demographic, epidemiological, and clinical characteristics of children with coronavirus disease‐2019 (COVID-19), and to determine variations of the clinical presentation of the disease by age. Method: A total of 104 confirmed COVID-19 patients aged between 0-18 years were retrospectively analyzed. The study period was between March 15, 2020 and July 1, 2020. A confirmed COVID-19 was defined as a child who has positive real-time reverse transcription-polymerase chain reaction (rRT-PCR). The patients were analyzed in terms of demographic, epidemiological, clinical, laboratory and imaging features, and clinical outcomes. Results: The median age (inter-quartile range) of the patients was 11.8 (8.4) years, and 53 (51%) were male. Ninety-eight (94%) of the patients had an epidemiological risk factor. The most frequent symptoms were cough (62%), fever (42%), and fatigue (33%). Seven patients (7%) were asymptomatic, 84 (81%) were mild, 9 (9%) were moderate, and 4 (4%) were in severe or critical condition. Ninety-eight (94%) of the patients underwent a chest x-ray, and 12% had pneumonia. The patients younger than 5 years were more likely to have fever (p = 0.019), rhinorrhea (p = 0.041), and diarrhea (p = 0.035). Muscle/join pain (26%), loss of smell/taste (20%), and headache (19%) were striking extra-pulmonary symptoms in older patients. Only 8% of the patients were hospitalized, and 4% were admitted to the intensive care unit. No death occurred. Conclusion: The most of the pediatric COVID-19 cases have mild symptoms without pneumonia. They may not present with fever or cough which are considered characteristic symptoms of the disease and the frequency of signs and symptoms may vary by age. Children younger than 5 years old are more likely to have fever, rhinorrhea, and diarrhea. School-age children and adolescents may present with extra-pulmonary symptoms such as muscle/join pain, smell/taste loss, and headache.

Clinical Manifestations of Patients with Influenza Differ by Age : A Prospective, Multi-centered Study in the Setouchi Marine Area.

Influenza potentially has a high mortality rate when it affects the elderly. We aimed to examine the differences in clinical manifestations in patients with influenza according to their age. This multicenter prospective study was performed in six medical institutions in Okayama and Kagawa prefectures (Japan). Between December 1, 2019 and March 31, 2020, we collected data on adult patients diagnosed with influenza type A, who were strat-ified into younger (20-49 years), middle-aged (50-64 years), and older groups (≥ 65 years). We compared the presence or absence of fever, respiratory symptoms, and extrapulmonary symptoms according to age group. In total, 203 patients (113, younger; 51, middle-aged; and 39, older) were eligible for the analysis. The maxi-mum body temperature and temperature at first physician visit in the older group were significantly lower than those in the younger group. The incidence of respiratory symptoms was not different among the three groups. Chills, muscle pain, and arthralgia as systemic symptoms were noted significantly more frequently in the younger (80.9%) and middle-aged (75.5%) groups than in the older group (51.3%) (p = 0.002). Fever and sys-temic symptoms were less likely to appear in older patients, possibly resulting in the delaying of hospital visits among older adults.

A Tale of Two Hearts: Cardiac Manifestations of Coronavirus-2019. A Case Series and Literature Review

Coronavirus disease 2019 (COVID-19) originally emerged as respiratory disease from a novel coronavirus, SARS-CoV-2. While initial cases revealed a spectrum of respiratory-associated clinical presentations ranging from mild shortness of breath with associated cough to severe respiratory distress, extrapulmonary symptoms, with or without concomitant respiratory disease, have been increasingly reported. Cardiovascular complications are noted in a subset of patients with presentations ranging from non-ST elevation myocardial infarction to fulminant myopericarditis. While cardiac myocytes express the SARS-CoV-2 receptor, Angiotensin converting enzyme 2 (ACE2), the mechanism of cardiac effects remains unknown, further underscoring the complex nature of COVID-19. Here we report two cases of COVID-19 in which cardiac manifestations – pericarditis with associated pericardial effusion and tamponade physiology and fulminant myocarditis – were the predominant manifestation of COVID-19. We hypothesize that many of COVID-19 pulmonary and extra-pulmonary manifestations manifest not only from direct SARS-CoV-2 toxicity in select tissues, but also its interaction with a complex interplay of host factors including genetic and epigenetic modifications of crucial genes – Angiotensin Converting Enzyme 2, Angiotensin Converting Enzyme 1, and Transmembrane protease serine-2 – and their respective affiliation with multiple signaling cascades with resultant dysregulated proinflammatory effects.

Detection of Atypical Pathogens in Community Acquired Pneumonia by Indirect Immunofluorescence Assay

Introduction: Community Acquired Pneumonia (CAP), as the name suggests, is acquired at the community level, and symptoms usually develop within 48 hours. There are two types of CAP, namely, typical and atypical. Typical pneumonia is usually caused by bacteria such as Streptococcus pneumoniae, Haemophilus influenzae and Moraxella catarrhalis. Atypical pneumonia is caused by Mycoplasma pneumoniae, Chlamydophila pneumoniae, Legionella pneumophila, and Coxiella burnetii, as well as respiratory viruses, such as Adenovirus, Respiratory Syncytial Virus (RSV), Influenza viruses A and B, and Parainfluenza viruses 1,2,3, among others. Typical and atypical CAP can be distinguished by the absence or presence of extrapulmonary symptoms. Aim: To elucidate the proportion of atypical respiratory pathogens that cause CAP in a tertiary care hospital setting. Materials and Methods: This was a cross-sectional study that was conducted at the Department of Medicine, Chest Medicine and Microbiology of MS Ramaiah Medical College, Bengaluru, Karnataka, India. The study included 202 patients, aged 18 years and above with clinical and radiological features of CAP. Indirect Immunofluorescence Assay (IFA) was carried out to detect the pathogens. Results: The prevalence of atypical pathogens was 33.17% among all CAP patients. Atypical pneumonia was more prevalent in males and in the age group of >61 years. The most common pathogens included Mycoplasma pneumoniae (12.38%) followed by Legionella pneumophila (9.90%) and influenza A (5.94%). Typical pneumonia was primarily caused by Streptococcus pneumoniae (9.9%), followed by Klebsiella pneumoniae (1.49%), Staphylococcus aureus (1.49%), and Haemophilus influenzae (0.49%). Mixed infections occurred in 16 patients. Conclusion: Active screening for CAP is needed in all wards and Intensive Care Units (ICU), as more patients with CAP are increasingly being admitted to ICU. Data on the proportion of atypical CAP will help to use antibiotics prudently for a better prognosis, thereby preventing the emergence of antibiotic resistance.

Долгий COVID-19

The term “long COVID-19” describes the long-term effects of the novel coronavirus infection COVID-19. Patients with severe COVID-19 who require hospitalization, as well as those who are on outpatient treatment with mild clinical forms of the disease, often report persistent fatigue, shortness of breath, pain, cough and other respiratory and extrapulmonary symptoms for weeks and months. The generally accepted time frame that separates the duration of the acute and subacute phase of infection from the long COVID-19 is 28 days. The article describes the duration and the course of clinical disorders caused by COVID-19 and their persisting after the end of the acute phase of the disease. In addition, the current understanding of the causes of long-term consequences and the possibilities of drug and non-pharmacological correction are presented.

COVID-19 enteritis

SARS-CoV-2 is a novel virus with novel complications. The commonly reported symptoms include fever, body aches, fatigue, shortness of breath and loss of smell similar but not exclusive to infections of the respiratory system. Other mentioned extrapulmonary symptoms pertaining to the gastrointestinal (GI) tract are abdominal pain, diarrhea and vomiting. Many complications have been documented in relation to the above-mentioned symptoms. In this paper, we report a complication of extrapulmonary disease of COVID-19 in relation to the GI manifestations of this novel virus. Still, in the race of developing and distributing a working vaccine, we should keep on monitoring different manifestations and complications of COVID-19 and treating and managing the millions of patients that are infected daily throughout the world.

Meningoencephalitis associated with COVID-19: a systematic review.

With the growing number of COVID-19 cases in recent times. significant set of patients with extra pulmonary symptoms has been reported worldwide. Here we venture out to summarize the clinical profile, investigations, and radiological findings among patients with SARS-CoV-2-associated meningoencephalitis in the form of a systemic review. This review was carried out based on the existing PRISMA (Preferred Report for Systematic Review and Meta analyses) consensus statement. The data for this review was collected from four databases: Pubmed/Medline, NIH Litcovid, Embase, and Cochrane library and Preprint servers up till 30 June 2020. Search strategy comprised of a range of keywords from relevant medical subject headings which includes “SARS-COV-2,” “COVID-19,” and “meningoencephalitis.” All peer reviewed, case–control, case report, pre print articles satisfying our inclusion criteria were involved in the study. Quantitative data was expressed in mean ± SD, while the qualitative date in percentages. Paired t test was used for analysing the data based on differences between mean and respective values with a p < 0.05 considered to be statistically significant. A total of 61 cases were included from 25 studies after screening from databases and preprint servers, out of which 54 of them had completed investigation profile and were included in the final analysis. Clinical, laboratory findings, neuroimaging abnormalities, and EEG findings were analyzed in detail. This present review summarizes the available evidences related to the occurrence of meningoencephalitis in COVID-19.

Early COVID-19 infection: The wide spectrum of extrapulmonary symptoms in elderly patients.

Early COVID-19 infection: The wide spectrum of extrapulmonary symptoms in elderly patients.

Physical and Mental Health Screening in a New York City HIV Cohort During the COVID-19 Pandemic: A Preliminary Report.

Background:Mental health consequences of the COVID-19 pandemic have been observed. Psychiatric symptoms in people living with HIV, and their relationship to physical symptomatology and prior psychopathology, are not yet reported.Setting:An HIV cohort sheltering-in-place in New York City.Methods:Forty-nine participants in a longitudinal study were contacted by telephone in April 2020. A structured interview queried COVID-19-associated physical symptoms, and mental health screens were performed with the generalized anxiety disorder-2 (GAD-2) and patient health questionnaire-2 (PHQ-2). Prior medical and neuropsychiatric data were obtained from preceding study visits. Post-hoc analyses were performed.Results:The mean age of respondents was 62.1 years, 39% were women, and 35% African American, 37% Latinx, and 28% Caucasian. COVID-19-indicator symptoms were present in 69%; 41% had respiratory and 61% extra-pulmonary symptoms. Mental health symptoms were endorsed in 45% with PHQ-2 and 43% with GAD-2, although threshold for major depression was met in only 4% and for GAD in 14%. Higher PHQ scores were associated with respiratory symptoms, but not prior mood or anxiety disorders. GAD-2 scores were higher with past mood disorders, but not with prior anxiety disorders or respiratory symptoms.Conclusions:Physical symptoms were frequent and mild psychiatric symptoms were common, but serious anxiety and depression were not often endorsed by this group of people living with HIV at the acute height of the New York City COVID-19 pandemic. Reasons for this are unclear, as this preliminary report is descriptive in nature. Short- and long-term consequences of acute mental health symptoms require further study.

Sudden and persistent dysphonia within the framework of COVID-19: The case report of a nurse

In December 2019, clusters of atypical pneumonia with unknown etiology emerged in the city of Wuhan in China. In early January 2020, the Center for Disease Control in China announced that it was identified a new coronavirus, first tentatively named 2019-nCoV and officially named SARS-CoV-2 by the International Committee on Taxonomy of Viruses. On February 11, 2020 the WHO identified the disease caused by SARS-CoV-2 as COVID-19 (COronaVIrus Disease-19 based on the year of appearance). Although only a few months have passed since the beginning of this pandemic, numerous studies, case reports, reviews by leading international scientific and medical journals have been published. However, given the unpredictability of virus behaviour and the still limited knowledge about it, many aspects of the infection are still little known. A recent epidemiological study has shown the presence of dysphonia in some patients with COVID-19, with a minority reporting aphonia during the clinical course of the disease. This case study draws attention on a 50-year-old female nurse presented with a history of fatigue resulting from minor exertion and persistent dysphonia at the Occupational Health Department of a major University Hospital in central Italy. The patient had a history of COVID-19 infection, which lasted about two months with pulmonary and extrapulmonary symptoms. After two RT-PCR negativities for SARS-CoV-2, dysphonia and fatigue due to minor exertionpersisted. The patient, following the persistence of the symptomatology, was subject to numerous specialist examinations, which showed no organic alterations. Based on her clinical and instrumental history, we hypothesized a psychogenetic dysphonia related to COVID-19. This case report highlights the importance of personalized medicine with long-term follow-up and rubustpsychological support in patients who tested positive for COVID-19 and in particular in the categories at greatest risk of both contagion and adverse physical and mental outcomes like health care workers.

Characterization and determinants of sleep measured by self-report and wrist actigraphy in patients with interstitial lung disease

PURPOSE The purpose of this study was to determine the association between sleep measurements by wrist actigraphy and patient self-report and assess the impact of physical activity and extrapulmonary symptoms on sleep quality in patients with fibrotic interstitial lung disease (ILD). METHODS Patients were recruited from specialized ILD clinics. Total sleep time, sleep efficiency, sleep latency and number of sleep disturbances were measured using the Pittsburgh Sleep Quality Index (PSQI) and an ActiGraph monitor worn on patients’ non-dominant wrist for seven consecutive days. Step counts were monitored over the same period using a waist monitor. Extrapulmonary symptoms were assessed with the Hospital Anxiety and Depression Scale and Brief Pain Inventory. Multivariable analyses were used to examine whether physical activity and extrapulmonary symptoms were determinants of sleep quality in fibrotic ILD. RESULTS A total of 111 patients were assessed (62% male, mean age 70 ± 9 years). Mean self-reported total sleep time was 494 ± 80mins/night. Median self-reported sleep efficiency and latency were 97% (94–98%) and 15 min (8–30 min), respectively. Poor sleep quality was reported in 61% of patients. Wrist monitors detected a mean total sleep time of 441 ± 72mins/night. Median sleep efficiency and latency measured by wrist monitors were 88% (83–91%) and 2 min (0–7 min), respectively. The PSQI was largely within limits of agreement in reference to the wrist monitor recordings. Higher pain severity was an independent predictor of reduced sleep efficiency, increased sleep latency and greater number of sleep disturbances measured by the PSQI on adjusted analyses. CONCLUSIONS The PSQI is generally in agreement with wrist actigraphy measurements. Pain is a determinant of sleep in fibrotic ILD.

Validation of subscales of the Severe Asthma Questionnaire (SAQ) using exploratory factor analysis (EFA)

BackgroundThe Severe Asthma Questionnaire (SAQ) is a health related quality of life (HRQoL) questionnaire validated for use in severe asthma. It is scored using the mean value of 16 items (SAQ score) in addition to a single item global rating of HRQoL (SAQ-global). The aim was to validate clinically relevant subscales using exploratory factor analysis (EFA).MethodsThe SAQ was completed, along with measures of asthma control and EQ5D-5L by patients attending six UK severe asthma centres. Clinical data were included in the analysis. EFA using principal axis factoring and oblimin rotation was used to achieve simple structure of data.Results460 patients with severe asthma participated, 65% women, mean age 51 (16–83) years. A three factor solution achieved best fit and showed that the SAQ items formed three distinct but inter-correlated groups of items where items were grouped in a way that was consistent with item content. The three subscales were differentially associated with clinically relevant variables (lung function and mood). Males and females interpreted the question of night disturbance in different ways.ConclusionsThis paper provides a template for best practice in the use of EFA when validating HRQoL subscales. The SAQ can be scored as three subscales with content reflecting three different constructs people with severe asthma use when making judgements about their lives. The subscale ‘My Life’ assesses the impact of severe asthma on different life activities, ‘My Mind’ assesses the perceived emotional impact and ‘My Body’ the impact of extra-pulmonary symptoms and side effects.

EXTRAPULMONARY PRESENTATION OF ASYMPTOMATIC MALE IN LYMPHANGIOLEIOMYOMATOSIS

SESSION TITLE: Medical Student/Resident Diffuse Lung Disease SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a rare multisystem disease that affects almost exclusively women in the reproductive age that can occur sporadically or in association with tuberous sclerosis (TB). LAM is characterized by invasion of the lungs and axial lymphatics by smooth muscle like cells termed LAM cells which have mutations in TSC1 or more commonly TSC2 resulting in activation of mTOR, abnormal cellular growth and migration. LAM commonly presents with dyspnea, recurrent pneumothorax and in some cases respiratory failure. Diagnosis is made by a combination of clinical features and the finding of thin walled cysts on CT scanning. In case of doubt, lung biopsy can be made for diagnosis with smooth muscle actin and HMB45 positive cells. Forty percent of patients have renal angiomyolipoma. Treatment is predominantly supportive with oxygen, bronchodilators and sometimes lung transplantation. CASE PRESENTATION: 41 y/o male patient with PMHx of epilepsy presents with abdominal pain that started 4 days ago. Pain was localized on left lower quadrant and left flank, non-radiating, pulsatile with 10/10 intensity and was associated with diarrhea and fever. Physical examination was remarkable for nasal angiofibromas, palpable mass on left lower quadrant and ash leaf spots on lower limbs. Abdominal-Pelvic CT Angiogram was remarkable for multiple bilateral renal angiomyolipomas, largest in the left kidney measuring 20 cm in size with an area of 15 cm of acute hemorrhage. Patient underwent endovascular embolization of renal arteries with no further complications. Due to findings on Abdominal-Pelvic CT Scan consistent with Tuberous Sclerosis, Chest CT Scan was ordered and remarkable for cystic changes in lungs and sclerotic bone lesions. These findings were pathognomonic of LAM and tissue biopsy was not necessary for diagnosis. DISCUSSION: Our patient represents a rare presentation of LAM in male patients; LAM is historically considered uncommon and fatal disease of women of childbearing age. The prevalence of LAM is thought to be 1 to 2.6 patients in 1,000,000 in the general female population. Our case presents a male with a rare disease diagnosed incidentally due to abdominal pain. Patient never presented with respiratory symptoms. Renal angiomyiolipoma could be an incidental finding on most patients. Our case demonstrates an atypical gender presentation with extra pulmonary symptoms that are unusual in LAM. CONCLUSIONS: The fact that this rare and uncommon disease presents in women is not exclusive to this gender. When exploring LAM as a differential diagnosis, males should be included. Reference #1: Johnson, S. R. (2006). Lymphangioleiomyomatosis. European Respiratory Journal. doi:10.1183/09031936.06.00113303 Reference #2: Rhee, J. A., Adial, A., Gumpeni, R., & Iftikhar, A. (2019). Lymphangioleiomyomatosis: A Case Report and Review of Literature. Cureus, 11(1), e3938. https://doi.org/10.7759/cureus.3938 Reference #3: Kristof AS, Moss J. Lymphangioleiomyomatosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:395-6. DISCLOSURES: No relevant relationships by Sandra Galarza-Vargas, source=Web Response No relevant relationships by Claudia Quiles, source=Web Response No relevant relationships by Jose Torres, source=Web Response