scholarly journals Parasitic hypereosinophilia in childhood: a diagnostic challenge

2018 ◽  
Vol 10 (1) ◽  
pp. 2018034
Author(s):  
Roberto Antonucci ◽  
Nadia Vacca ◽  
Giulia Boz ◽  
Cristian Locci ◽  
Rosanna Mannazzu ◽  
...  
Keyword(s):  
Eosinophil Count ◽  
Hypereosinophilic Syndrome ◽  
Igg Antibodies ◽  
Diagnostic Challenge ◽  
Etiological Diagnosis ◽  
Maximum Value ◽  
History Of ◽  
Diagnostic Work ◽  
Patient’S History ◽  
Work Up

Severe hypereosinophilia (HE) in children is rare, and its etiological diagnosis is challenging. We describe a case of a 30-month-old boy, living in a rural area, who was admitted to our Clinic with a 7-day history of fever and severe hypereosinophilia. A comprehensive diagnostic work-up could not identify the cause of this condition. On day 6, the rapidly increasing eosinophil count (maximum value of 56,000/mm3), the risk of developing hypereosinophilic syndrome, and the patient’s history prompted us to undertake an empiric treatment with albendazole.The eosinophil count progressively decreased following treatment. On day 13, clinical condition and hematological data were satisfactory, therefore the treatment was discontinued and the patient was discharged. Three months later, anti-nematode IgG antibodies were detected in patient serum, thus establishing the etiological diagnosis. In conclusion, an empiric anthelmintic treatment seems to be justified when parasitic hypereosinophilia is strongly suspected, and other causes have been excluded.

scholarly journals Benign Subcutaneous Nodules and Hypereosinophilic Syndrome: A Rare Presentation of an Uncommon Entity

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Rimesh Pal ◽  
Uday Yanamandra ◽  
Prasanna Kumar ◽  
Nirmalya Banerjee
Keyword(s):  
Eosinophil Count ◽  
Index Case ◽  
Hypereosinophilic Syndrome ◽  
Low Grade ◽  
Rare Presentation ◽  
Angiolymphoid Hyperplasia ◽  
The Past ◽  
Absolute Eosinophil Count ◽  
Oral Corticosteroids ◽  
History Of

A 40-year-old gentleman presented with a history of multiple swellings involving his face, scalp, left axilla, back, and right thigh for the past 8 years. For the last 6 months, he developed intermittent low-grade fever, anorexia, weight loss, and gradually worsening breathlessness. On evaluation, the patient was found to have abnormally elevated absolute eosinophil count. Workup for the etiology of eosinophilia was unrewarding. All investigations related to an underlying myeloproliferative disorder were negative. Hence, a clinical possibility of angiolymphoid hyperplasia with eosinophilia (ALHE) was kept which was confirmed on histopathology. In the absence of other causes of hypereosinophilia, a clinical diagnosis of “associated hypereosinophilic syndrome” secondary to ALHE was made. He was managed with oral corticosteroids. The absolute eosinophil count reduced markedly, while the swellings showed a more gradual response, shrinking in size by about 50% following two months of therapy. The index case thus highlights a rather unusual presentation of ALHE.

scholarly journals Heavy menstrual bleeding: work-up and management

Hematology ◽  
2016 ◽  
Vol 2016 (1) ◽  
pp. 236-242 ◽  
Author(s):  
Andra H. James
Keyword(s):  
Treatment Strategy ◽  
Bleeding Disorder ◽  
Heavy Menstrual Bleeding ◽  
Menstrual Bleeding ◽  
Laboratory Assessment ◽  
Life Saving ◽  
Ovulatory Dysfunction ◽  
History Of ◽  
Patient’S History ◽  
Work Up

Abstract Heavy menstrual bleeding (HMB), which is the preferred term for menorrhagia, affects ∼90% of women with an underlying bleeding disorder and ∼70% of women on anticoagulation. HMB can be predicted on the basis of clots of ≥1 inch diameter, low ferritin, and “flooding” (a change of pad or tampon more frequently than hourly). The goal of the work-up is to determine whether there is a uterine/endometrial cause, a disorder of ovulation, or a disorder of coagulation. HMB manifest by flooding and/or prolonged menses, or HMB accompanied by a personal or family history of bleeding is very suggestive of a bleeding disorder and should prompt a referral to a hematologist. The evaluation will include the patient’s history, pelvic examination, and/or pelvic imaging, and a laboratory assessment for anemia, ovulatory dysfunction, underlying bleeding disorder, and in the case of the patient on anticoagulation, assessment for over anticoagulation. The goal of treatment is to reduce HMB. Not only will the treatment strategy depend on whether there is ovulatory dysfunction, uterine pathology, or an abnormality of coagulation, the treatment strategy will also depend on the age of the patient and her desire for immediate or long-term fertility. Hemostatic therapy for HMB may serve as an alternative to hormonal or surgical therapy, and may even be life-saving when used to correct an abnormality of coagulation.

scholarly journals Variants in HNRNPDL and SETX Not Necessarily Indicate Familial Amyotrophic Lateral Sclerosis or Limb Girdle Muscular Dystrophy 1G in Acute Muscular Respiratory Failure

2020 ◽  
Vol 11 (02) ◽  
pp. 353-354
Author(s):  
Josef Finsterer ◽  
Claudia Stöllberger ◽  
Hans Keller ◽  
Franco Laccone
Keyword(s):  
Respiratory Failure ◽  
Variants Of Unknown Significance ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Unknown Significance ◽  
History Of ◽  
History Of Epilepsy ◽  
Diagnostic Work ◽  
Conclusive Diagnosis ◽  
Work Up

AbstractGenetic work-up is useful for the identification of a primary myopathy. However, even sophisticated genetic methods may fail to detect the underlying cause of myopathy as in the following case. The patient is a 52-year-old female with a history of epilepsy, arterial hypertension, atrial flutter requiring cardioversion, ablation, and anticoagulation, coronary heart disease, hyperlipidemia, and hyper-CKemia. At age 52 years, she was referred for heart failure due to ischemic cardiomyopathy requiring appropriate medication and implantation of an ICD. During hospitalization she developed acute muscular respiratory failure requiring mechanical ventilation. Genetic panels for myopathy, neuropathy, and cardiomyopathy revealed variants of unknown significance in the HNRNPDL and SETX genes respectively. Clinical presentation and muscle biopsy, however, suggested metabolic myopathy. Acute muscular respiratory failure may require traditional diagnostic work-up for primary myopathy and long-term invasive and non-invasive ventilation. Panel investigations not necessarily lead to a conclusive diagnosis. The multisystem nature of the condition rather suggests a metabolic defect than LGMD-1G or fALS as genetic findings suggested.

scholarly journals Development and Validation of a Bayesian Network for Supporting the Etiological Diagnosis of Uveitis

2021 ◽  
Vol 10 (15) ◽  
pp. 3398
Author(s):  
Yvan Jamilloux ◽  
Nicolas Romain-Scelle ◽  
Muriel Rabilloud ◽  
Coralie Morel ◽  
Laurent Kodjikian ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Training Dataset ◽  
Test Dataset ◽  
Etiological Diagnosis ◽  
Diagnostic Work ◽  
Development And Validation ◽  
Epidemiological Characteristics ◽  
Incident Cases ◽  
Work Up ◽  
Selection Of

The etiological diagnosis of uveitis is complex. We aimed to implement and validate a Bayesian belief network algorithm for the differential diagnosis of the most relevant causes of uveitis. The training dataset (n = 897) and the test dataset (n = 154) were composed of all incident cases of uveitis admitted to two internal medicine departments, in two independent French centers (Lyon, 2003–2016 and Dijon, 2015–2017). The etiologies of uveitis were classified into eight groups. The algorithm was based on simple epidemiological characteristics (age, gender, and ethnicity) and anatomoclinical features of uveitis. The cross-validated estimate obtained in the training dataset concluded that the etiology of uveitis determined by the experts corresponded to one of the two most probable diagnoses in at least 77% of the cases. In the test dataset, this probability reached at least 83%. For the training and test datasets, when the most likely diagnosis was considered, the highest sensitivity was obtained for spondyloarthritis and HLA-B27-related uveitis (76% and 63%, respectively). The respective specificities were 93% and 54%. This algorithm could help junior and general ophthalmologists in the differential diagnosis of uveitis. It could guide the diagnostic work-up and help in the selection of further diagnostic investigations.

scholarly journals Cannabinoid Hyperemesis Syndrome: The Missed Diagnosis

2020 ◽  
Vol 6 (3) ◽  
pp. 127-130
Author(s):  
João B. Fonseca ◽  
Daniela Vilaverde ◽  
Rosa Rodrigues ◽  
Pedro Morgado
Keyword(s):  
Illicit Drug ◽  
Cannabis User ◽  
Cannabinoid Hyperemesis Syndrome ◽  
History Of ◽  
Missed Diagnosis ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
Cyclic Vomiting

Cannabis is the most cultivated and abused illicit drug worldwide. Paradoxically to the antiemetic properties attributed to cannabis, a relatively new cannabinoid hyperemesis syndrome (CHS) started to be recognized and is characterized by cyclic vomiting that are interspaced by asymptomatic phases. We present a case of a 36‑year‑old woman who repeatedly presented to the emergency room with cyclic vomiting that alleviated with hot showers. She was a long‑term cannabis user and the diagnosis was only established several years later after the onset of symptoms. The diagnostic work up was unremarkable, and the only effective treatment was cannabis cessation. Hot bathing behavior is a key characteristic of this syndrome. CHS is a new clinical condition that should be considered in a setting of recurrent and intractable vomiting in patients with a history of cannabis use.

scholarly journals Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report

2019 ◽  
Vol 28 (3) ◽  
pp. 359-361 ◽  
Author(s):  
Radislav Nakov ◽  
Stayko Sarafov ◽  
Ventsislav Nakov ◽  
Mariana Gospodinova ◽  
Tihomir Todorov ◽  
...  
Keyword(s):  
Diagnostic Challenge ◽  
Transthyretin Amyloidosis ◽  
Gi Symptoms ◽  
Peripheral Polyneuropathy ◽  
Life Threatening ◽  
Gastrointestinal Manifestation ◽  
Diagnostic Work ◽  
Biochemical Imaging ◽  
Work Up ◽  
Diarrhea Syndrome

Transthyretin amyloidosis (ATTR) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene. Due to the phenotypic heterogeneity, ATTR is difficult to recognize and it is often diagnosed very late. In ATTR gastrointestinal (GI) disorders play an important role in the patients’ morbidity and mortality. In some cases, GI symptoms are present even before the onset of the peripheral polyneuropathy. However, the complaints are various and it is really difficult to differentiate them from other GI disorders. We present a 61-year old male referred for diarrhea, unintentional weight loss and early satiety. He had hypotension after longstanding hypertension, numbness and tingling in the feet. We considered a broad differential diagnosis spectrum of chronic diarrhea syndrome and performed numerous laboratory, biochemical, imaging, endoscopic, histological and genetic tests. Transthyretin amyloidosis with a Glu89Gln mutation was diagnosed. Transthyretin amyloidosis is frequently misdiagnosed, representing a diagnostic challenge in GI practice. The presence of certain clinical combinations could help gastroenterologists to include ATTR in their diagnostic work-up.

Hypereosinophilic syndrome with multiorgan involvement: an interdisciplinary work-up

2021 ◽  
Vol 14 (2) ◽  
pp. e240243
Author(s):  
Kirsten I M Looman ◽  
Maarten E Nuver ◽  
Tim I M Korevaar ◽  
Samara S Guillen
Keyword(s):  
Multiorgan Failure ◽  
Hypereosinophilic Syndrome ◽  
Skin Lesions ◽  
Myeloproliferative Disease ◽  
Tunnel Vision ◽  
Increased Risk ◽  
Diagnostic Work ◽  
Time Of Presentation ◽  
Work Up ◽  
Diagnostic Work Up

A previously healthy 40-year-old man was referred to our emergency department with pruritic skin lesions and dyspnoea. Laboratory investigation revealed hypereosinophilia. Further diagnostic work-up confirmed the diagnosis of idiopathic hypereosinophilic syndrome (iHES), a rare myeloproliferative disease with a heterogeneous clinical presentation. We describe a unique case with cardiac, pulmonary, hepatic and cutaneous involvement at time of presentation. This case accentuates the importance of an extensive multidisciplinary diagnostic work-up, since iHES is a condition with potential rapid progressive multiorgan failure which requires prompt analysis and treatment. In addition, this case emphasises the importance of being aware of tunnel vision, especially during the COVID-19 pandemic, which might give rise to an increased risk of missing rare diagnoses. Our patient was treated with prednisolone, after which both his clinical condition and eosinophil concentrations markedly improved.

Variable clinical response of hypereosinophilic syndromes (HES) to current therapeutic options

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 16527-16527
Author(s):  
S. Mitra ◽  
P. T. Murphy ◽  
J. R. O’Donnell
Keyword(s):  
Clinical Response ◽  
Interferon Alpha ◽  
Eosinophil Count ◽  
Hypereosinophilic Syndrome ◽  
Case Series ◽  
Chemotherapeutic Agents ◽  
Therapeutic Options ◽  
Treatment Modalities ◽  
High Dose ◽  
History Of

16527 The term Hypereosinophilic syndrome (HES) refers to a heterogeneous group of disorders characterised by marked blood (>1500/cu mm) and tissue eosinophilia resulting in end organ damage.Several visceral complications like cardiomyopathies and cerebrovascular accidents are common. Treatment of HES includes corticosteroids,chemotherapeutic agents (hydroxyurea, cyclophosphamide, vincristine), interferon-alpha. Newer treatment modalities,including tyrosine kinase inhibitors (eg Imatinib) and monoclonal anti IL5 antibodies are now available. We report a case series of patients with HES which demonstrate the variable clinical response to above therapeutic options. Case 1: A 43 year old man who presented with a right lacunar infarct had a eosinophil count of 1200/cu mm. No cause was found. He also had Mitral valve endocarditis. Following initial treatment with Methylprednisolone, the eosinophil count came down to 3500/cu mm, but the eosinophilia persisted. He was given a trial of Imatinib. In 2 months time his eosinophilia resolved. However, he was negative for FILIPI-PDGFRa. Case 2: A 37 year old lady with history of Splenectomy (due to trauma) presented with a eosinophil count of 2660/cu mm. Result of the FILIPI-PDGFRa was equivocal. There was no response to Imatinib. A trial of Prednisolone (1 mg/Kg) was ineffective. She did not respond to Interferon-alpha. However when given a combination of Prednisolone (0.5 mg/kg) and Interferon-alfa, her counts were normal in a month. Case 3: A 63 year old man with history of Atrial Fibrillation had persistent eosinophilia (>1500/cu mm). His serum Tryptase was raised but he was negative for FILIPI-PDGFRa. A trial of Imatinib failed He responded partially to high dose of Hydroxyurea. Prednisolone, Interferon-alpha or a combination of both are future options for him. Case 4: A 80 year old man with background history of Alzheimer’s Disease was found to have persistent unexplained eosinophilia. He had no complains of joint symptoms but his ANF was positive in low titres. A bone marrow showed no evidence of lymphoma or a myeloproliferative disorder. Karyotype was normal. He was given a trial of Hydroxyurea to which he responded in two weeks. Thus, response of HES patients to treatment is variable often unpredictable. No significant financial relationships to disclose.

scholarly journals Heart failure in the elderly: A geriatric syndrome. Picture of the modern situation

2019 ◽  
Vol 89 (1) ◽  
Author(s):  
Valentina Fagotto ◽  
Alessandro Cavarape ◽  
Alessandro Boccanelli
Keyword(s):  
Heart Failure ◽  
Older Patients ◽  
Clinical Presentation ◽  
The Elderly ◽  
Geriatric Syndrome ◽  
Diagnostic Work ◽  
Patient’S History ◽  
Work Up ◽  
Diagnostic Work Up

Among the older patients’ cohort, the aetiology of heart failure is peculiar and differs in many ways from the younger one, both in its epidemiology, diagnostic work-up and clinical presentation. Focusing on this population, we could assume that heart failure is a real geriatric syndrome, characterized by several features, which coexist with other comorbidities and require specific and targeted cares. It is therefore necessary to examine the global burden of heart failure and the patient’s history rather than the causal cardiomyopathy - frequently more than one in the elderly - facing with the condition, bearing in mind the quality of life even before its duration.

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