Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome.
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ABSTRACT:
SUBMITTER: Staels F
PROVIDER: S-EPMC8147557 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS). VEXAS syndrome often overlaps with rheumatic diseases, including relapsing polychondritis. Here, we describe a case of VEXAS syndrome with auricular chondritis and exceptional multiple myeloma (MM). An 83-year-old man was diagnosed with MM, which was treated once by lenalidomide hydrate obtaining a partial response, but the patient did not desire further aggressive therapy. Although the treatment was effective, progressive macrocytic anemia and inflammation of both the ears emerged over the following 2 months. The histological examination of the auricle skin revealed that the perichondrial area was infiltrated by inflammatory cells, leading to the diagnosis of auricular chondritis. He was treated with oral prednisolone 40 mg/day, and his symptoms rapidly resolved. The re-evaluation of the histopathological bone marrow findings revealed vacuoles in the myeloid precursor cells without myelodysplasia-related changes. Sanger sequencing of UBA1 was performed using genomic DNA from peripheral blood leukocytes and revealed a somatic variant (c.122T>C:p.Met41Thr) consistent with VEXAS syndrome. This demonstrates that patients with chondritis can have complications with MM despite the absence of underlying MDS. A strong association exists between UBA1 variants and the risk of MDS; however, it remains elusive whether somatic UBA1 variants contribute to the development of plasma cell dyscrasia without MDS. Hence, we discuss the possible relationship between auricular chondritis and MM on a background of VEXAS syndrome.
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Project description:Lung involvement is not widely recognized as a complication of auto-inflammatory diseases. We present a broad approach to diagnose a severe form of autoinflammatory syndrome in an adult male patient. A 63-year-old Caucasian male presented with recurrent episodes of high fever, interstitial lung infiltration, and pleural effusion. Laboratory tests performed during the flares revealed lymphopenia and increased levels of C-reactive protein and ferritin. Broad diagnostic research on infections, connective tissue diseases, and malignancies yielded negative results. The patient's symptoms promptly resolved upon the administration of glucocorticoids; however, they reappeared when the prednisone dose was reduced. All attempts to administer immunomodulatory and immunosuppressive medications were ineffective. During follow-up, autoinflammatory syndrome was suspected; however, no pathological variants of monogenic autoinflammatory diseases were identified by genome-exome sequencing. The patient did not respond to interleukin 1 blockade with anakinra. He died due to multi-organ failure, and his condition remained unresolved until the first reported description of vacuole, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome (VEXAS). We describe the diagnostic traps and reasoning process involved in establishing that the patient's symptoms were autoinflammatory in nature based on clinical symptoms, in addition to the proof of concept gained from genetic reevaluation and identification of pathogenic variants in the UBA1 gene. The aim of this review is to increase the awareness of VEXAS among pulmonologists. Genetic screening for UBA1 should be considered in patients with recurrent pneumonitis of unknown origin with elevated inflammatory markers and signs of cytopenia, especially if they require chronic steroids to control the disease. Respiratory manifestations are part of VEXAS; these may be dominant in the course of the disease and severe at presentation.
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Project description:Heyde syndrome is known as a triad of calcific aortic stenosis, anemia due to gastrointestinal bleeding from angiodysplasia, and acquired type 2A von Willebrand disease. This acquired hemorrhagic disorder is characterized by the loss of the large von Willebrand factor multimers due to the shear stress across the diseased aortic valve. The most frequently observed type of bleeding in these patients is mucosal or skin bleeding, such as epistaxis, followed by gastrointestinal bleeding. On the other hand, intracranial hemorrhage complicating Heyde syndrome is extremely rare.A 77-year-old woman presented to our hospital with severe aortic stenosis and severe anemia due to gastrointestinal bleeding and was diagnosed with Heyde syndrome. Although aortic valve replacement was performed without recurrent gastrointestinal bleeding, postoperative life-threatening acute subdural hematoma occurred with a marked midline shift. Despite prompt surgical evacuation of the hematoma, she did not recover consciousness and she died 1 month after the operation.Postoperative subdural hematoma is rare, but it should be kept in mind as a devastating hemorrhagic complication, especially in patients with Heyde syndrome.
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Project description:BackgroundCardiogenic shock (CS) due to takotsubo cardiomyopathy (TTC) is a life-threatening condition. Therapy is challenging because of the ambivalent effects of catecholamines. Catecholamines are required to stabilize blood pressure but might aggravate TTC. Cardiac assist devices could be a suitable solution for conserving catecholamines and the prevention of TTC perpetuation.Case summaryWe report the case of a male patient with refractory CS and severe respiratory insufficiency as a result of a reverse TTC, which involved both ventricles. Simultaneous circulatory support with an Impella CP® and veno-arterial extracorporeal membrane oxygenation was initiated for cardiopulmonary stabilization and catecholamine weaning. A giant, incidental pheochromocytoma was diagnosed as the cause of TTC. After drug treatment and resection of the tumour, biventricular function completely recovered within 7 weeks.DiscussionA rare and challenging situation is the coincidence of a nor/epinephrine-secreting tumour, such as a pheochromocytoma, and severe CS complicating TTC. Although percutaneous left ventricular assist devices (pLVAD) are highly complicated and have shown conflicting results in terms of clinical efficacy for CS, its use may prevent the perpetuation of TTC due to reduced catecholamines requirement.
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Project description:BackgroundInjury to thoracic duct is a rare potential complication of time-honored conventional thyroidectomy. Nevertheless, it can be a cause of significant morbidity, and sometimes life-threatening.Patient findingsA 78-year-old female patient with a previous surgical history of thyroid lobectomy for nodular disease presented with primary hyperparathyroidism, and a nodule in the remaining thyroid lobe. The patient underwent completion thyroidectomy and parathyroidectomy. Less than 24h post operatively, the patient developed progressive shortness of breath and neck swelling requiring immediate intubation and re-exploration. A large amount of chyle was drained and an injured thoracic duct was identified and ligated.SummaryIn experienced hands thyroid surgery is safe. Nevertheless, factors such as the type of pathology and its extent, the level of surgery, and re-operative surgery increase the risk of postoperative complications. Immediate surgical exploration is necessary when patients present with neck swelling and respiratory distress. In our case, a high output chyle leak in a confined space was life threatening.ConclusionTimely re-exploration following thyroid surgery and thorough knowledge of the anatomy of neck structures is crucial in sparing patients potential morbidity and/or mortality.
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Project description:BackgroundCapillary leak syndrome (CLS) is a rare disease characterized by profound vascular leakage and presents as a classic triad of hypotension, hypoalbuminemia and hemoconcentration. Severe CLS is mostly induced by sepsis and generally life-threatening in newborns, especially in premature infants. Continuous renal replacement therapy (CRRT) plays an important role of supportive treatment for severe CLS. Unfortunately, CRRT in preterm infants has rarely been well defined.Case presentationWe report the case of a 11-day-old girl with CLS caused by sepsis, who was delivered by spontaneous vaginal delivery (SVD) at gestational age of 25 weeks and 4 days, and a birth weight of 0.89 Kilograms(kg). The infant received powerful management consisting of united antibiotics, mechanical ventilation, intravenous albumin and hydroxyethyl starch infusion, vasoactive agents, small doses of glucocorticoids and other supportive treatments. However, the condition rapidly worsened with systemic edema, hypotension, pulmonary exudation, hypoxemia and anuria in about 40 h. Finally, we made great efforts to perform CRRT for her. Fortunately, the condition improved after 82 h' CRRT, and the newborn was rescued and gradually recovered.ConclusionCRRT is an effective rescue therapeutic option for severe CLS and can be successfully applied even in extremely-low-birth-weight premature.
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