project cardiovascular involvement in autoimmune diseases.

 

TITLE OF CASE

Navigating Libman-Sacks Endocarditis: A Complex Journey from Systemic Lupus Erythematosus to Cushing’s Syndrome

SUMMARY

Autoimmune diseases  involve multiple organ systems leading to chronic inflammation, there by results in multiple organ dysfunction syndrome. some autoimmune disorders are associated with an increased risk of cardiovascular diseases. We present a remarkable case of a girl in her mid teens who initially manifested with a constellation of complications related to systemic lupus erythematosus (SLE). Her clinical presentation included endocarditis, glomerulonephritis, central nervous system (CNS) vasculitis, and a cardioembolic phenomenon. The intricate interplay between these diverse manifestations underscores the complexity of SLE and highlights the importance of early recognition and multidisciplinary management. we also present the diagnostic and therapeutic challenges faced and role of subsequent follow up through our paJR (patient journey record ) in managing her illness.

BACKGROUND

Cardiovascular disease (CVD) is a broad term that encompasses a range of subphenotypes, including hypertension, angina, ischemic heart disease, acute coronary syndrome, coronary artery disease, myocardial infarction, congestive heart failure, peripheral arterial disease, left ventricular diastolic dysfunction, cerebrovascular disease, transient ischemic attacks, deep vein thrombosis, pulmonary embolism, peripheral vascular disease, and subclinical atherosclerosis.(1)  Autoimmune diseases are a group of chronic conditions that can affect various organs or systems, leading to significant morbidity and mortality. These diseases share common mechanisms, such as genetic factors, gender disparity, environmental triggers, pathophysiological abnormalities, and specific subphenotypes.(2)  Several risk factors have been identified since The Framingham Heart Study, which are commonly referred to as classic risk factors. These factors contribute to endothelial dysfunction, subclinical atherosclerosis, and the development of cardiovascular events over time. Despite the fact that these factors are well-known, they do not fully explain the excessive Cardiovascular events observed in patients with autoimmune diseases. In a previous study, Sarmiento-Monroy et al. (3,4) proposed a classification system for non-traditional risk factors in Auto immune disorders, which categorizes them into genetic determinants, Autoimmune disease-related factors, and miscellaneous factors. The interaction between traditional and disease-specific traits is complex and leads to the premature onset of the atherosclerosis process in autoimmunity.

CASE PRESENTATION

A joyful girl with no significant past medical history presented to the emergency department with complaints that includes fever associated with hyperpigmented macules on the face for the past 15 days, bilateral pedal edema extending to the knees for the past 15 days, which resolved after medical treatment and reappeared after two days, abdominal distension for the past 8 days, accompanied by a dry cough and decreased appetite, decreased urine output and constipation for the past 3 days, with bowel movements occurring once every 3 to 4 days, and shortness of breath with staring looks, dysphagia, dysarthria and inconsolable cry for the past 3 days. The patient has no history of hypertension, diabetes, thyroid disorder, coronary artery disease, epilepsy, and tuberculosis. The patient's personal habits include a mixed diet, loss of appetite, and a non-vegetarian diet. There is no significant family history. On examination, the patient shows signs of systemic inflammatory response syndrome with evidence of high grade fever, tachycardia. on general examination findings reveals non-scaring alopecia, staring looks with hyperpigmented macules on face, multiple hyperpigmented spots like lesions on both palms and soles consistent with thromboembolic origin.  The cardiovascular examination revealed an apical heart beat that was displaced laterally with  palpable thrills, and mild S3 and S4 heart sounds. The respiratory observations revealed decreased breath sounds in the right lower lobe, and crepitations were present in the right infra-scapular region. The abdominal examination revealed an inverted umbilicus with shifting dullness on percussion. central nervous system examination reveals Moderate Cognitive Impairment (MMSE Score of 18/30) with Presence of Hypertonia in All Limbs with Exaggerated Reflexes and Patellar Clonus, Positive Jaw Jerk, Palmomental Reflex, and Tremors with Swaying upon Eye Opening, dysarthria, dysphagia and emotional liability. 2nd admission :  The patient presented with a flare-up of systemic lupus erythematosus (SLE) characterized by Libmann-Sachs endocarditis and vasculitic stroke, and was discharged with a regimen that included Tab. Prednisolone 20mg BD, Tab. Azathioprine 50mg BD, Tab. HCQ 200mg OD, and Tab. Warfarin 5mg BD. The patient reported headache, vomiting, and neck pain that began 2-3 days prior to presentation. The patient had been improving since her last discharge in October 2022 but experienced a recurrence of symptoms three days prior to presentation. The patient reported no fever, altered sensorium, blurred vision, diplopia, photophobia, or phonophobia. The patient had no history of trauma, and examination revealed facial puffiness with a stary look, echymotic patch on the right knee, and neck stiffness with pain. The patient had normal vital signs upon admission, including blood pressure of 170/110mmHg, pulse of 84, respiratory rate of 18 cpm, and oxygen saturation of 99% on room air. The patient's cranial nerves were normal, and her motor examination revealed exaggerated deep tendon reflexes and sustained patellar clonus. The patient had persistent nausea and vomiting, and her neck pain persisted despite treatment with Naproxen 125mg stat. The patient's creatinine clearance was 60ml/min, and her serum protein electrophoresis was normal. The patient's MRI was normal, and her CSF analysis was negative for bacterial and viral agents. The patient's clinical presentation suggested meningitis due to SLE, which was the most likely diagnosis, although infective and Warfarin-induced intracranial bleeding were also considered. ●        Give a comprehensive account of the presenting features, including the medical/social/family history ●        This is the patient’s story – anonymise the manuscript as far as possible. Do not write the exact age (write “in his 20s” instead). Ethnicities and exact occupations should be avoided unless essential to clinical discussion. Place names and calendar dates are to be avoided – use regions of the world and “2 months/days later”, for example, instead. ●        Do not name your institution in the text (or in the patient perspective section). If necessary use phrases such as “presented to the/our Emergency Department”, “was referred to our tertiary specialist unit”… ●        How did the patient present? Signs and symptoms… ●        What is the relevant history? 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INVESTIGATIONS If relevant

laboratory investigations suggestive of Bicytopenia (anemia with thrombocytopenia) acute kidney injury with nephritic range proteinuria. radiology imaging suggests features suggestive of polyserositis, left ventricular hypertrophy with vasculitic infarct in right peri ventricular area with cerebral atrophy. blood and urine cultures turned to be negative with 2D-echo showing severe mitral regurgitation with moderate pericardial effusion. ANA profile reveals strong positive for  Anti ds-DNA antibodies. she was started on steroids & anticoagulants and discharged as her symptoms subsided with advise to follow up for optimising steroids and oral anticoagulant doses.

DIFFERENTIAL DIAGNOSIS If relevant

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TREATMENT If relevant

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OUTCOME AND FOLLOW-UP

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DISCUSSION Include a very brief review of similar published cases

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REFERENCES

1. Amaya-Amaya J, Sarmiento-Monroy JC, Rojas-Villarraga A. Cardiovascular involvement in autoimmune diseases. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors. Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013 Jul 18. Chapter 38. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459468/ 2.  Anaya JM. Common mechanisms of Autoimmune Dis (the autoimmune tautology). Autoimmun Rev. 2012;11:781–4 3. Sarmiento-Monroy JC, Amaya-Amaya J, Espinosa-Serna JS, Herrera-Díaz C, Anaya JM, Rojas-Villarraga A. Cardiovascular disease in rheumatoid arthritis: a systematic literature review in latin america. Arthritis. 2012;2012:371909. 4. Amaya-Amaya J, Sarmiento-Monroy JC, Mantilla RD, Pineda-Tamayo R, Rojas-Villarraga A, Anaya JM. Novel risk factors for cardiovascular disease in rheumatoid arthritis. Immunol Res. 2013;56:267–86.

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PATIENT’S PERSPECTIVE

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abstract : 

autoimmune disorders involve multiple systems ranging from mild inflammatory response to life threatening multi organ dysfunction leading to significant morbidity and mortality.

Autoimmune diseases (ADs) represent a broad spectrum of chronic conditions that may afflict specific target organs or multiple systems with a significant burden on quality of life. These conditions have common mechanisms including genetic factors, gender disparity, environmental triggers, pathophysiological abnormalities and certain subphenotypes which are represent by the autoimmune tautology (1,2). Atherosclerosis (AT) was once considered to be a degenerative disease that was an inevitable consequence of aging. However, researches in the last three decades have shown that AT is not degenerative or inevitable. It is an autoimmune-inflammatory disease associated with infectious and inflammatory factors, characterized by lipoproteins metabolism alteration that leads to immune system activation with the consequent proliferation of smooth-muscle cells, narrowing arteries and atheroma formation (3). Both humoral and cellular immune mechanisms have been proposed to participate in the onset and/or progression of atheromatous lesions (4). In recent years, many reports have been focused on the immunologic background of AT, and it is no longer in doubt that shares several autoimmune pathways (5). It is not surprising, to find an accelerated AT in quite a lot of ADs.

Cardiovascular Disease (CVD) represent a broad spectrum of subphenotypes: hypertension (HTN); Coronary syndromes: angina, Ischemic Heart Disease (IHD), Acute Coronary Syndrome (ACS), Coronary Artery Disease (CAD), Myocardial Infarction (MI); Congestive Heart Failure (CHF); Peripheral Arterial Disease (PAD); Left Ventricular Diastolic Dysfunction (LVDD); cerebrovascular disease (Cerebrovascular Accidents [CVAs]; Transient Ischemic Attacks [TIAs]); thrombosis: Deep Vein Thrombosis (DVT), Pulmonary Embolism (PE); Peripheral Vascular Disease (PVD); and subclinical AT.

Atherosclerosis, once thought to be an inevitable consequence of aging, is now known to be an autoimmune-inflammatory disease associated with infectious and inflammatory factors. It is characterized by altered lipoprotein metabolism, which leads to immune system activation and the proliferation of smooth-muscle cells, resulting in arterial narrowing and atheroma formation. Both humoral and cellular immune mechanisms have been implicated in the development and progression of atheromatous lesions. Recent research has shown that atherosclerosis shares several autoimmune pathways with other diseases. It is not surprising that many autoimmune diseases are associated with accelerated atherosclerosis.

refernces : 

1. Amaya-Amaya J, Sarmiento-Monroy JC, Rojas-Villarraga A. Cardiovascular involvement in autoimmune diseases. In: Anaya JM, Shoenfeld Y, Rojas-Villarraga A, et al., editors. Autoimmunity: From Bench to Bedside [Internet]. Bogota (Colombia): El Rosario University Press; 2013 Jul 18. Chapter 38. Available from: https://www.ncbi.nlm.nih.gov/books/NBK459468

2.