A common disease masked by complex clinical manifestations: A case report of hypothyroidism

Background: Hypothyroidism is a common disease in elderly people. Although hypothyroidism can theoretically have clinical implications related to nearly all major organs, it is often excluded from diagnostic algorithms for elderly patients with multi-system disease because its symptoms are non-specific. Case summary: A 61-year-old woman presented with dizziness, fatigue, facial swelling, dry cracked skin, and myalgia. She had a 2-year history of impairment of multiple organs and multiple adverse drug events. Blood tests showed abnormal liver and kidney function, an elevated creatine kinase concentration, and hyperlipidaemia. During the last 2 years, she had experienced multiple severe adverse drug events, including eosinophilia and systemic symptoms caused by carbamazepine, acute kidney impairment related to ceftriaxone and cefdinir, exfoliative dermatitis caused by ceftazidime, and intolerance to statins. After visiting several large hospitals, she was finally diagnosed in our clinic with hypothyroidism. At the time of diagnosis, she was extremely ill and unable to walk independently. After taking levothyroxine, all of her symptoms and signs completely resolved. Conclusion: Hypothyroidism might be overlooked in elderly patients, especially those with complex and severe clinical conditions. Keywords: Aged; adverse drug events; multiple organ dysfunction; hypothyroidism.

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Idiopathic Multicentric Hyaline Vascular-Type Castleman Disease

Case Reports in Hematology ◽

10.1155/2021/6620666 ◽

2021 ◽

Vol 2021 ◽

pp. 1-4

Author(s):

Adelaide Moutinho ◽

Rita Gamboa Cunha ◽

Sheila Koch Jamal ◽

Marta Meleiro Lisboa ◽

Sandra Tavares

Keyword(s):

Clinical Manifestations ◽

Lymph Node Biopsy ◽

Multiple Organ ◽

Castleman Disease ◽

Diagnostic Challenge ◽

Image Study ◽

Acute Phase Reactants ◽

Vascular Type ◽

Hyaline Vascular Type ◽

Systemic Symptoms

Castleman disease is a rare lymphoproliferative disorder presenting with localized or disseminated lymphadenopathy and systemic symptoms. It can be categorized clinically as unicentric or multicentric, histopathologically as hyaline vascular, plasma cell, or mixed variant, and etiologically, considering the subtypes based on causative viral agents and associated syndromes. The multicentric type can mimic other haematological malignancies, ranging from asymptomatic to multiple organ involvement. Although its pathophysiology is not well known, the current approved treatments are directed towards interleukin-6, CD-20, and viral agents. The authors present an 82-year-old leucodermic man presented with a 2-week history of constitutional symptoms. Examination revealed pallor, hepatosplenomegaly, and palpable left axillary lymphadenopathy. Investigation showed anaemia, thrombocytopenia, polyclonal hypergammaglobulinemia, hypoalbuminemia, and high acute phase reactants, with image study revealing multiple axillary, mediastinal, inguinal, and pelvic lymphadenopathies. The lymph node biopsy was consistent with hyaline vascular-type Castleman disease without human herpersvirus-8 markers. He started prednisolone with initial improvement evolved poorly on a short term. Castleman disease has a broad spectrum of clinical manifestations, associations, and complications that bring a diagnostic challenge, requiring a multidisciplinary approach. Clinicians should be familiar with its features because proper diagnosis and aggressive targeted treatment are the pillars of proper management of these patients.

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Embryonic and foetal expression patterns of the ciliopathy gene CEP164

10.1101/741538 ◽

2019 ◽

Author(s):

LA Devlin ◽

SA Ramsbottom ◽

LM Overman ◽

SN Lisgo ◽

G Clowry ◽

...

Keyword(s):

Developmental Biology ◽

Primary Cilium ◽

Kidney Failure ◽

Genetic Disorders ◽

Expression Patterns ◽

Clinical Manifestations ◽

Disease Phenotype ◽

Centrosomal Protein ◽

System Disease ◽

Multiple Organs

AbstractNephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited genetic disorders that share a defect in the formation, maintenance or functioning of the primary cilium complex, causing progressive kidney failure and other clinical manifestations. Mutations in centrosomal protein 164 kDa (CEP164), also known as NPHP15, have been identified as a cause of NPHP-RC. Here we have utilised the MRC-Wellcome Trust Human Developmental Biology Resource (HDBR) to perform immunohistochemistry studies on human embryonic and foetal tissues to determine the expression patterns of CEP164 during development. Notably expression is widespread, yet defined, in multiple organs including the kidney, retina and cerebellum. Murine studies demonstrated an almost identical Cep164 expression pattern. Taken together, this data supports conserved roles for CEP164 throughout the development of numerous organs, which we suggest accounts for the multi-system disease phenotype of CEP164 mediated NPHP-RC.

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Drug reaction with eosinophilia and systemic symptoms syndrome in a patient taking lamotrigine

BMJ Case Reports ◽

10.1136/bcr-2019-229180 ◽

2019 ◽

Vol 12 (10) ◽

pp. e229180 ◽

Cited By ~ 1

Author(s):

Catarina Lameiras ◽

Énia Ornelas ◽

Marta Mendes Lopes ◽

Maria do Céu Dória

Keyword(s):

Adverse Drug Reaction ◽

Drug Reaction ◽

Late Onset ◽

Clinical Manifestations ◽

Multiple Organ ◽

Dress Syndrome ◽

Causative Drug ◽

Life Threatening ◽

Systemic Symptoms ◽

Hepatic Cytolysis

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome is a rare adverse drug reaction characterised by skin eruption and multiple organ involvement. Diagnosing this entity is challenging due to the variability of clinical manifestations, late onset and relapse even after stopping the causative drug. It is potentially life-threatening; thus, it must be promptly recognised and the causative drug withdrawn. We describe a case of a 50-year-old man with an acute diffuse rash, fever and eosinophilia 4 weeks after having started lamotrigine. The suspected eliciting drug was suspended and systemic corticoid treatment was initiated (prednisolone 0.5 mg/kg/day). Symptoms relapsed under corticoid tapering with greater severity. The patient developed an exuberant rash associated with peripheral lymphadenopathies, marked eosinophilia and hepatic cytolysis. The diagnosis of DRESS syndrome to lamotrigine was made. Prednisolone dosage was increased to 1 mg/kg/day, and the subsequent taper was performed slowly over the course of 10 weeks. Full clinical remission was observed.

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Catastrophic antiphospholipid syndrome: a narrative review

Beyond Rheumatology ◽

10.4081/br.2019.23 ◽

2019 ◽

Vol 1 (2) ◽

pp. 47-51

Author(s):

Maria Giulia Tinti ◽

Vincenzo Carnevale ◽

Angela De Matthaeis ◽

Antonio Varriale ◽

Angelo De Cata

Keyword(s):

Antiphospholipid Syndrome ◽

Lupus Erythematosus ◽

Rapid Development ◽

Clinical Manifestations ◽

Intravenous Immunoglobulins ◽

Multiple Organ ◽

Catastrophic Antiphospholipid Syndrome ◽

Small Vessels ◽

Multiple Organs ◽

Vascular Occlusions

The catastrophic antiphospholipid syndrome (CAPS) is a lifethreatening disorder characterized by the rapid development of multiple organs/systems thrombosis, in patients with persistently detectable antiphospholipid antibodies. The vascular occlusions predominantly affect small vessels, leading to a disseminated thrombotic microangiopathic syndrome. Most CAPS episodes are related to the presence of a precipitating factor, such as infections and malignant diseases, usually ending up in multiple organ failure. Clinical manifestations may vary according to the extent of the thrombosis, predominantly affecting kidneys, lungs, brain, heart, and skin. Treatment is based on the administration of anticoagulants, corticosteroids, plasma exchange and/or intravenous immunoglobulins. Cyclophosphamide is recommended in CAPS associated with systemic lupus erythematosus. Additionally, rituximab and eculizumab have been used in refractory cases. Overall mortality is still 36.9%, despite recent progress in the therapeutic approach.

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Multiple-organ failure in patients with severe coronavirus disease (COVID-19)

EMERGENCY MEDICINE ◽

10.22141/2224-0586.17.2.2021.230632 ◽

2021 ◽

Vol 17 (2) ◽

pp. 19-27

Author(s):

I.A. Kuchynska ◽

B.O. Savchenko ◽

A.H. Andriukhov ◽

A.M. Ivanchenko ◽

N.V. Astashkina ◽

...

Keyword(s):

Organ Failure ◽

Organ Dysfunction ◽

Inflammatory Cell ◽

Clinical Manifestations ◽

Multiple Organ ◽

Pathological Process ◽

Multiple Organ Dysfunction ◽

Multiple Organs ◽

Economic Task ◽

Coronavirus Infection

The article analyzes the mechanisms of the development and clinical manifestations of multi-organ dysfunction and multi-organ failure syndrome, which often accompany the severe COVID-19. Moreover, since multiple organ dysfunction during severe COVID-19 may be caused by a cytokine storm resulting from elevated inflammatory mediators, endothelial dysfunction, coagulation disorders, and inflammatory cell infiltration, further studies are needed to determine the exact mechanisms of pathogenesis. Since the involvement of multiple organs in the pathological process of the disease during coronavirus infection is an important and complex medical, mental, tactical, physical, emotional, and economic task for both clinicians and patients and their families, increasing knowledge of the pathological process can help improve outcomes and reduce morbidity and mortality. The review includes some results of our own experience in the treatment of severe cases of coronavirus disease.

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An update on HLA alleles as pharmacogenetic markers for antiepileptic drug-induced cutaneous adverse reaction

Neuroscience Research Notes ◽

10.31117/neuroscirn.v2i2.29 ◽

2019 ◽

Vol 2 (2) ◽

pp. 1-17

Author(s):

Sue-Mian Then ◽

Azman Ali Raymond

Keyword(s):

Single Gene ◽

Hypersensitivity Syndrome ◽

Allelic Frequency ◽

Stevens Johnson Syndrome ◽

Case Control Studies ◽

Drug Induced ◽

Hla Alleles ◽

Exfoliative Dermatitis ◽

Johnson Syndrome ◽

Systemic Symptoms

Epilepsy is a common neurological disorder affecting approximately 50 million people worldwide. Antiepileptic drugs (AEDs) are commonly used to treat the disease depending, mainly on the type of seizure. However, the use of AEDs may also lead to cutaneous adverse drug reactions (cADR) such as toxic epidermal necrolysis (TEN), Stevens–Johnson syndrome (SJS), exfoliative dermatitis (ED) and drug‐induced hypersensitivity syndrome/drug reaction with eosinophilia and systemic symptoms (DIHS/DRESS), which are unwanted comorbidities in epilepsy. It was first discovered that the HLA-B*15:02 allele was strongly associated with carbamazepine (CBZ)-induced SJS/TEN among Han Chinese and this led to the discovery of other HLA alleles and cytochrome P450 (CYP) genes that were significantly associated with various AED-induced cADRs across various populations. This mini review is an update on the latest findings of the involvement of various HLA alleles and CYP alleles in cADRs caused by CBZ, phenytoin (PHT), oxcarbazepine (OXC) and lamitrogine (LTG) in different case-control studies around the world. From our review, we found that CBZ- and PHT-induced cADRs were more commonly reported than the other AEDs. Therefore, there were more robust pharmacogenetics studies related to these AEDs. OXC- and LTG-induced cADRs were less commonly reported, and so more studies are needed to validate the reported association of the newer reported HLA alleles with these AEDs. It is also important to take into account the allelic frequency within a given population before drawing conclusions about the use of these alleles as genetic markers to prevent AED-induced cADR. Overall, the current body of research point to a combination of alleles as a better pharmacogenetic marker compared to the use of a single gene as a genetic marker for AED-induced cADR.

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Splenic uptake on FDG PET/CT correlates with Kikuchi-Fujimoto disease severity

Scientific Reports ◽

10.1038/s41598-021-90350-z ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Hye Seong ◽

Yong Hyu Jeong ◽

Woon Ji Lee ◽

Jun Hyoung Kim ◽

Jung Ho Kim ◽

...

Keyword(s):

Disease Severity ◽

Fdg Pet ◽

Tertiary Care ◽

Clinical Manifestations ◽

Standardized Uptake Value ◽

Total Lesion Glycolysis ◽

Positron Emission ◽

Pet Ct ◽

Systemic Symptoms ◽

Fdg Pet Ct

AbstractKikuchi-Fujimoto disease (KFD) is usually self-limiting, but prolonged systemic symptoms often result in frequent hospital visits, long admission durations, or missed workdays. We investigated the role of fluorine-18 fluoro-2-deoxy-D-glucose (18F-FDG) positron emission tomography/computed tomography (PET/CT) in assessing KFD severity. We reviewed the records of 31 adult patients with pathologically confirmed KFD who underwent 18F-FDG PET/CT between November 2007 and April 2018 at a tertiary-care referral hospital. Disease severity was assessed using criteria based on clinical manifestations of advanced KFD. Systemic activated lymph nodes and severity of splenic activation were determined using semi-quantitative and volumetric PET/CT parameters. The median of the mean splenic standardized uptake value (SUVmean) was higher in patients with severe KFD than those with mild KFD (2.38 ± 1.18 vs. 1.79 ± 0.99, p = 0.058). Patients with severe KFD had more systemically activated volume and glycolytic activity than those with mild KFD (total lesion glycolysis: 473.5 ± 504.4 vs. 201.6 ± 363.5, p = 0.024). Multivariate logistic regression showed that myalgia (odds ratio [OR] 0.035; 95% confidence interval [CI] 0.001–0.792; p = 0.035), total lymph node SUVmax (cutoff 9.27; OR 24.734; 95% CI 1.323–462.407; p = 0.032), and spleen SUVmean (cutoff 1.79; OR 37.770; 95% CI 1.769–806.583; p = 0.020) were significantly associated with severe KFD. 18F-FDG PET/CT could be useful in assessing KFD severity.

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Case of an unusual diagnosis of primary antiphospholipid syndrome with multiple clinical complications

Oxford Medical Case Reports ◽

10.1093/omcr/omaa117 ◽

2020 ◽

Vol 2020 (12) ◽

Author(s):

Stathis Tsiakas ◽

Chrysanthi Skalioti ◽

Paraskevi Kotsi ◽

Ioannis Boletis ◽

Smaragdi Marinaki

Keyword(s):

Antiphospholipid Syndrome ◽

Thrombotic Event ◽

Renal Involvement ◽

Clinical Manifestations ◽

Young Male ◽

Multiple Organ ◽

Systemic Autoimmune Disease ◽

Antiphospholipid Antibody ◽

Primary Antiphospholipid Syndrome ◽

Wide Range

ABSTRACT Antiphospholipid syndrome (APS) is a systemic autoimmune disease defined by the presence of antiphospholipid antibodies in association with thrombotic events and/or obstetric complications. Renal involvement is not infrequent in both primary and secondary APS. Kidney manifestations comprise a wide range of clinical features, including hypertension, major renal vessel thrombosis or microvascular endothelial injury, also described as APS nephropathy. In the absence of a thrombotic event, clinical manifestations of APS are often non-specific. We recently encountered a case of primary APS in a young male with newly diagnosed hypertension and renal impairment. The diagnosis of APS was initially suspected by his kidney biopsy findings, when electron microscopy examination showed the features of chronic microangiopathy, and was later confirmed by a triple positive antiphospholipid antibody profile and multiple organ involvement.

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Pathobiology of A/Chicken/Hong Kong/220/97 (H5N1) Avian Influenza Virus in Seven Gallinaceous Species

Veterinary Pathology ◽

10.1354/vp.38-2-149 ◽

2001 ◽

Vol 38 (2) ◽

pp. 149-164 ◽

Cited By ~ 190

Author(s):

L. E. L. Perkins ◽

D. E. Swayne

Keyword(s):

Hong Kong ◽

Avian Influenza ◽

Pulmonary Edema ◽

Multiorgan Failure ◽

Clinical Manifestations ◽

Highly Pathogenic ◽

H5n1 Avian Influenza Virus ◽

Multiple Organs ◽

H5n1 Avian Influenza ◽

Virus Localization

Direct bird-to-human transmission, with the production of severe respiratory disease and human mortality, is unique to the Hong Kong-origin H5N1 highly pathogenic avian influenza (HPAI) virus, which was originally isolated from a disease outbreak in chickens. The pathobiology of the A/chicken/Hong Kong/ 220/97 (H5N1) (HK/220) HPAI virus was investigated in chickens, turkeys, Japanese and Bobwhite quail, guinea fowl, pheasants, and partridges, where it produced 75-100% mortality within 10 days. Depression, mucoid diarrhea, and neurologic dysfunction were common clinical manifestations of disease. Grossly, the most severe and consistent lesions included splenomegaly, pulmonary edema and congestion, and hemorrhages in enteric lymphoid areas, on serosal surfaces, and in skeletal muscle. Histologic lesions were observed in multiple organs and were characterized by exudation, hemorrhage, necrosis, inflammation, or a combination of these features. The lung, heart, brain, spleen, and adrenal glands were the most consistently affected, and viral antigen was most often detected by immunohistochemistry in the parenchyma of these organs. The pathogenesis of infection with the HK/220 HPAI virus in these species was twofold. Early mortality occurring at 1-2 days postinoculation (DPI) corresponded to severe pulmonary edema and congestion and virus localization within the vascular endothelium. Mortality occurring after 2 DPI was related to systemic biochemical imbalance, multiorgan failure, or a combination of these factors. The pathobiologic features were analogous to those experimentally induced with other HPAI viruses in domestic poultry.

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Chikungunya Manifestations and Viremia in Patients Who Presented to the Fever Clinic at Bangkok Hospital for Tropical Diseases during the 2019 Outbreak in Thailand

Tropical Medicine and Infectious Disease ◽

10.3390/tropicalmed6010012 ◽

2021 ◽

Vol 6 (1) ◽

pp. 12

Author(s):

Hisham A Imad ◽

Juthamas Phadungsombat ◽

Emi E Nakayama ◽

Sajikapon Kludkleeb ◽

Wasin Matsee ◽

...

Keyword(s):

Chikungunya Virus ◽

Clinical Manifestations ◽

Clinical Findings ◽

Acute Stage ◽

Tropical Diseases ◽

Healthy Individuals ◽

Rt Pcr ◽

Viral Loads ◽

The Family ◽

Systemic Symptoms

Chikungunya virus is an Alphavirus belonging to the family Togaviridae that is transmitted to humans by an infected Aedes mosquito. Patients develop fever, inflammatory arthritis, and rash during the acute stage of infection. Although the illness is self-limiting, atypical and severe cases are not uncommon, and 60% may develop chronic symptoms that persist for months or even for longer durations. Having a distinct periodical epidemiologic outbreak pattern, chikungunya virus reappeared in Thailand in December 2018. Here, we describe a cohort of acute chikungunya patients who had presented to the Bangkok Hospital for Tropical Diseases during October 2019. Infection was detected by a novel antigen kit and subsequently confirmed by real-time RT-PCR using serum collected at presentation to the Fever Clinic. Other possible acute febrile illnesses such as influenza, dengue, and malaria were excluded. We explored the sequence of clinical manifestations at presentation during the acute phase and associated the viral load with the clinical findings. Most of the patients were healthy individuals in their forties. Fever and arthralgia were the predominant clinical manifestations found in this patient cohort, with a small proportion of patients with systemic symptoms. Higher viral loads were associated with arthralgia, and arthralgia with the involvement of the large joints was more common in female patients.

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