RESUMEN
Whipple disease is a rare systemic illness associated with weight loss, diarrhea, and arthralgia. Asymptomatic carriage is common, but the disease can be complicated by cardiac involvement and may result in culture-negative endocarditis. Cardiac manifestations of the disease can lead to death. This report presents the case of a 66-year-old man with Whipple disease and biventricular heart failure with cardiogenic shock. Medical therapy followed by successful replacement of the aortic and mitral valves resulted in substantial improvement.
Asunto(s)
Endocarditis Bacteriana , Insuficiencia Cardíaca , Implantación de Prótesis de Válvulas Cardíacas , Tropheryma , Enfermedad de Whipple , Humanos , Masculino , Anciano , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/microbiología , Insuficiencia Cardíaca/diagnóstico , Insuficiencia Cardíaca/microbiología , Insuficiencia Cardíaca/terapia , Insuficiencia Cardíaca/etiología , Endocarditis Bacteriana/microbiología , Endocarditis Bacteriana/diagnóstico , Endocarditis Bacteriana/complicaciones , Endocarditis Bacteriana/terapia , Tropheryma/aislamiento & purificación , Resultado del Tratamiento , Antibacterianos/uso terapéutico , Válvula Mitral/diagnóstico por imagen , Válvula Mitral/microbiología , Válvula Mitral/cirugía , Choque Cardiogénico/etiología , Choque Cardiogénico/terapia , Choque Cardiogénico/diagnóstico , Choque Cardiogénico/microbiología , Válvula Aórtica/microbiología , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagen , Enfermedades de las Válvulas Cardíacas/microbiología , Enfermedades de las Válvulas Cardíacas/diagnóstico , Enfermedades de las Válvulas Cardíacas/complicacionesRESUMEN
Tropheryma whipplei is the causative agent of Whipple's disease, which is a rare multiorgan systemic disease. We report two cases of Tropheryma whipplei infection, all routine tests were negative and it was finally detected by mNGS. This may help clinicians increase awareness of the diagnosis and treatment of acute severe pneumonia and interstitial pneumonia caused by Tropheryma whipplei.
Asunto(s)
Secuenciación de Nucleótidos de Alto Rendimiento , Metagenómica , Tropheryma , Enfermedad de Whipple , Humanos , Tropheryma/genética , Tropheryma/aislamiento & purificación , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/microbiología , Masculino , Metagenómica/métodos , Persona de Mediana Edad , Anciano , Femenino , Neumonía Bacteriana/microbiología , Neumonía Bacteriana/diagnóstico , Neumonía Bacteriana/tratamiento farmacológico , Antibacterianos/uso terapéuticoRESUMEN
With the use of metagenomic next-generation sequencing, patients diagnosed with Whipple pneumonia are being increasingly correctly diagnosed. We report a series of 3 cases in China that showed a novel pattern of movable infiltrates and upper lung micronodules. After treatment, the 3 patients recovered, and lung infiltrates resolved.
Asunto(s)
Tomografía Computarizada por Rayos X , Enfermedad de Whipple , Anciano , Humanos , Masculino , Persona de Mediana Edad , Antibacterianos/uso terapéutico , China , Secuenciación de Nucleótidos de Alto Rendimiento , Pulmón/diagnóstico por imagen , Pulmón/patología , Neumonía Bacteriana/diagnóstico por imagen , Neumonía Bacteriana/microbiología , Neumonía Bacteriana/diagnóstico , Tropheryma/genética , Tropheryma/aislamiento & purificación , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/diagnóstico por imagenRESUMEN
Whipple's disease is a multisystemic chronic infectious condition caused by Tropheryma whipplei (T. whipplei). Though characterised often by insidious weight loss, diarrhoea, and arthralgia, three other distinct manifestations can be observed, namely localised disease, acute infection and asymptomatic carriage. The diagnosis relies on histopathological examination of duodenal biopsies and polymerase chain reaction analysis of the 16S rRNA gene for T. whipplei. We report the case of a middle-aged man admitted for etiologic investigation of prolonged, migrating, and inflammatory arthralgias and subsequent development of gastrointestinal symptoms. Despite its reputation as a great mimicker of many different illnesses, the difficulty in diagnosis probably lies with its rarity rather than its masking.
Asunto(s)
Antibacterianos , Enfermedad de Whipple , Masculino , Persona de Mediana Edad , Humanos , Antibacterianos/uso terapéutico , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedades Raras , ARN Ribosómico 16S/genética , BiopsiaRESUMEN
Despite their rarity, Lyme disease and Whipple's disease are of significant importance in rheumatology, as both can manifest as chronic arthritis, presenting challenges in the differential diagnosis of inflammatory arthropathies. In Lyme disease, arthritis typically emerges as a late manifestation, usually occurring six months after the onset of erythema migrans. The predominant presentation involves mono- or oligoarthritis of large joints, with a chronic or remitting-recurrent course. Even with appropriate antimicrobial treatment, arthritis may persist due to inadequate immunological control triggered by the disease. In contrast, Whipple's disease may present with a migratory and intermittent seronegative poly- or oligoarthritis of large joints, preceding classic gastrointestinal symptoms by several years. Both disorders, particularly Whipple's disease, can be misdiagnosed as more common autoimmune rheumatic conditions such as rheumatoid arthritis and spondyloarthritis. Epidemiology is crucial in suspecting and diagnosing Lyme disease, as the condition is transmitted by ticks prevalent in specific areas of the United States, Europe, and Asia. On the contrary, the causative agent of Whipple's disease is widespread in the environment, yet invasive disease is rare and likely dependent on host genetic factors. In addition to erythema migrans in Lyme disease and gastrointestinal manifestations in Whipple's disease, neurological and cardiac involvement can further complicate the course of both. This article offers a comprehensive review of the epidemiological, pathophysiological, clinical, and therapeutic aspects of both diseases.
Asunto(s)
Artritis Reumatoide , Enfermedad de Lyme , Enfermedad de Whipple , Humanos , Reumatólogos , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Lyme/diagnóstico , Enfermedad de Lyme/tratamiento farmacológico , Enfermedad de Lyme/epidemiología , EritemaRESUMEN
A 60-year-old male patient presented with ischemic-embolic stroke. Transesophageal echocardiography revealed the cause to be aortic valve endocarditis with highly eccentric aortic valve regurgitation. The blood cultures taken several times remained sterile. The indication for surgical aortic valve replacement was made. Conventional microbiological work-up of the heart valve did not reveal any pathogens. The additional molecular genetic testing using eubacterial PCR ("polymerase chain reaction" [PCR]) finally demonstrated the presence of Tropheryma whipplei. A number of therapeutic options were available. The authors decided on intravenous antibiotic therapy with ceftriaxone for 14 days and follow-up therapy with oral trimethoprim/sulfamethoxazole for 1 year. The case illustrates the importance of additional molecular diagnostics beyond the conventional methods in blood culture-negative endocarditis to identify the pathogen and initiate appropriate therapy.
Asunto(s)
Endocarditis Bacteriana , Accidente Cerebrovascular Isquémico , Humanos , Masculino , Persona de Mediana Edad , Accidente Cerebrovascular Isquémico/etiología , Endocarditis Bacteriana/microbiología , Endocarditis Bacteriana/tratamiento farmacológico , Endocarditis Bacteriana/diagnóstico , Endocarditis Bacteriana/complicaciones , Antibacterianos/uso terapéutico , Antibacterianos/administración & dosificación , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Insuficiencia de la Válvula Aórtica/cirugía , Ceftriaxona/uso terapéutico , Ceftriaxona/administración & dosificación , Ecocardiografía Transesofágica , Combinación Trimetoprim y Sulfametoxazol/uso terapéutico , Combinación Trimetoprim y Sulfametoxazol/administración & dosificación , Implantación de Prótesis de Válvulas Cardíacas , Válvula Aórtica/cirugía , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/patologíaAsunto(s)
Linfadenopatía , Tropheryma , Enfermedad de Whipple , Humanos , Linfadenopatía/microbiología , Tropheryma/aislamiento & purificación , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/microbiología , Enfermedad de Whipple/complicaciones , Masculino , Antibacterianos/uso terapéutico , Persona de Mediana EdadRESUMEN
A 63-year-old man was admitted to the hospital for nausea, vomiting, and right flank pain. He was found to have septic emboli in multiple organs secondary to aortic valve endocarditis. He was started on broad-spectrum antibiotics and underwent valve replacement. Blood cultures from admission were negative, but a blood polymerase chain reaction (PCR) test for fastidious difficult-to-culture pathogens showed a positive result for Tropheryma whipplei. Valve histopathological evaluation confirmed Tropheryma whipplei endocarditis. He was treated with intravenous penicillin followed by oral trimethoprim-sulfamethoxazole. A high index of suspicion for causes of culture-negative endocarditis needs to be maintained when blood cultures are negative despite clear evidence of endocarditis especially with large vegetation sizes and other complications such as septic emboli. Multiple imaging modalities are available to assist with diagnosis including transthoracic and transesophageal echocardiogram as well as cardiac computed tomography. A blood PCR test can identify the implicated pathogen in a more expeditious manner compared to valve histopathological evaluation. Treatment is complex and usually requires surgical intervention and prolonged antimicrobial therapy.
Asunto(s)
Embolia , Endocarditis Bacteriana , Tropheryma , Enfermedad de Whipple , Humanos , Masculino , Endocarditis Bacteriana/diagnóstico , Endocarditis Bacteriana/microbiología , Endocarditis Bacteriana/complicaciones , Persona de Mediana Edad , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/tratamiento farmacológico , Tropheryma/aislamiento & purificación , Embolia/diagnóstico , Embolia/microbiología , Embolia/etiología , Embolia/complicaciones , Enfermedades de las Válvulas Cardíacas/microbiología , Enfermedades de las Válvulas Cardíacas/diagnóstico , Enfermedades de las Válvulas Cardíacas/complicaciones , Válvula Aórtica/microbiología , Válvula Aórtica/diagnóstico por imagen , Válvula Aórtica/patología , Antibacterianos/uso terapéutico , Antibacterianos/administración & dosificaciónRESUMEN
BACKGROUND Whipple disease (WD) is rare, with an incidence of only a few patients per million. It is caused by infection with the gram-positive bacterium Tropheryma whipplei, and presents with symptoms that include joint pain, fever, diarrhea, and weight loss. This report is of a 40-year-old man with a 7-year history of polyarthritis and a late diagnosis of Whipple disease. The atypical nature of his symptoms led to misdirection and misdiagnosis for years. CASE REPORT A middle-aged white man with seronegative migratory polyarticular arthritis underwent 7 years of treatment with steroids, disease-modifying anti-rheumatic drugs (DMARDs), and a TNF (tumor necrosis factor)-alpha inhibitor, all without any clinical improvement. Throughout this period, he had persistent loose stools and iron-deficiency anemia. Extensive diagnostic investigations for various possibilities yielded negative results. However, after 7 years, he began displaying clinical signs of malabsorption. This prompted further evaluation, including an upper-gastrointestinal endoscopy and biopsy, which revealed the presence of PAS (periodic acid-Schiff)-positive Treponema whipplei, which led to the diagnosis of WD. Following initiation of appropriate treatment, the patient experienced complete resolution of symptoms. Retrospectively, all the pieces of this puzzle fell into place, providing a comprehensive understanding of the prolonged medical challenge the patient faced. CONCLUSIONS This case illuminates the diagnostic challenge faced when dealing with migratory polyarticular inflammatory arthritis and fever. This report has highlighted that Whipple disease can be associated with multiple symptoms and signs, which can result in a delay in diagnosis. However, once the diagnosis is confirmed, antibiotic treatment is effective.
Asunto(s)
Antirreumáticos , Artritis , Enfermedad de Whipple , Adulto , Humanos , Masculino , Antibacterianos/uso terapéutico , Antirreumáticos/uso terapéutico , Artritis/diagnóstico , Diagnóstico Tardío , Fiebre/complicaciones , Estudios Retrospectivos , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/complicacionesRESUMEN
PURPOSE OF REVIEW: Whipple's disease is an infectious cause of uveitis that may present with nonspecific findings of intraocular inflammation, which can precede the development of neurologic symptoms and signs. Whipple's disease, then, may evade consideration in the differential diagnosis for uveitis. RECENT FINDINGS: Molecular tests can be helpful in identifying the presence of Tropheryma whipplei from ocular specimens. The application of metagenomic sequencing for ocular specimens is promising, as it offers the opportunity to identify the pathogen when suspicion for an intraocular infection is high. Whipple's disease demonstrates the ability to abrogate the host immune response, which gives some insight into its pathogenesis. SUMMARY: Whipple's disease should be suspected in patients who have uveitis refractory to anti-inflammatory therapy. Knowledge of this important pathogen can help direct the timely implementation of diagnostic testing.
Asunto(s)
Uveítis , Enfermedad de Whipple , Humanos , Antibacterianos/uso terapéutico , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Uveítis/diagnóstico , Uveítis/tratamiento farmacológico , Inflamación/tratamiento farmacológico , Tropheryma/genéticaRESUMEN
Whipple's Disease (WD) is a rare disease caused by the infection of Tropheryma whipplei. It can lead to immunosuppression and a multitude of effects on different organ systems, resulting in a constellation of seemingly unrelated findings. Although treatment may appear straightforward, T. whipplei can be difficult to eradicate. We present the case of a 36-year-old male with months of progressively worsening watery diarrhea, migratory arthralgias, and weight loss. He had undergone an extensive evaluation for rheumatologic, oncologic, and infectious disorders without positive findings. Esophagogastroduodenoscopy and colonoscopy revealed esophageal candidiasis, Helicobacter pylori infection, and foamy macrophages in the lamina propria of the duodenum and ileum with positive polymerase chain reaction for T. whipplei. There were no other risk factors for esophageal candidiasis. He received treatment for his esophageal candidiasis and H. pylori infection and was treated for WD with ceftriaxone for 2 weeks, followed by hydroxychloroquine and doxycycline for 1 year. Symptoms resolved after 3 months of therapy. One year later, repeat bidirectional endoscopy was performed. Biopsies were negative for T. whipplei, although there were persistent foamy macrophages. There have been previously reported cases of patients with WD with concomitant esophageal candidiasis, and this association implies a likely state of relative immunosuppression associated with WD, which is thought to be the result of impaired T helper cell 1 activity. This impairment likely contributes to the high rate of relapse. Having a low threshold for repeat evaluation is advisable for recurrent symptoms, but long-term surveillance strategies are not clearly defined.
Asunto(s)
Infecciones por Helicobacter , Helicobacter pylori , Enfermedad de Whipple , Masculino , Humanos , Adulto , Antibacterianos/uso terapéutico , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , DoxiciclinaRESUMEN
Whipple's disease, an extremely rare, chronic infection caused by Tropheryma whipplei, an actinobacterium ubiquitously present in the environment, is a multisystemic condition that can affect several organs. Therefore, Whipple's disease should always be considered by physicians working across various branches of medicine, including internal medicine, rheumatology, infectious diseases, gastroenterology, haematology, and neurology. Initially, Whipple's disease is challenging to diagnose due to both its rarity and non-specific clinical features, almost indistinguishable from rheumatological conditions. A few years later, the onset of gastrointestinal symptoms increases the specificity of its clinical picture and helps in reaching the correct diagnosis. Diagnosis is typically made by finding PAS-positive macrophages in the lamina propria at duodenal biopsy. PCR for Tropheryma whipplei is nowadays also increasingly available, and represents an undeniable help in diagnosing this condition. However, it may also be misleading as false positives can occur. If not promptly recognized and treated, central nervous system involvement may develop, which can be fatal. The therapeutic gold standard has not yet been fully established, particularly in cases of recurrent disease, neurological involvement, and an immune reconstitution inflammatory syndrome that may arise following the initiation of antibiotic therapy.
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Médicos , Enfermedad de Whipple , Humanos , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/patología , Enfermedades Raras/tratamiento farmacológico , Antibacterianos/uso terapéutico , Biopsia , TropherymaRESUMEN
OBJECTIVES: Tropheryma whipplei infection can manifest as inflammatory joint symptoms, which can lead to misdiagnosis of inflammatory rheumatic disease and the use of disease-modifying antirheumatic drugs. We investigated the impact of diagnosis and treatment of Tropheryma whipplei infection in patients with inflammatory rheumatic disease. METHODS: We initiated a registry including patients with disease-modifying antirheumatic drugs-treated inflammatory rheumatic disease who were subsequently diagnosed with Tropheryma whipplei infection. We collected clinical, biological, treatment data of the inflammatory rheumatic disease, of Tropheryma whipplei infection, and impact of antibiotics on the evolution of inflammatory rheumatic disease. RESULTS: Among 73 inflammatory rheumatic disease patients, disease-modifying antirheumatic drugs initiation triggered extra-articular manifestations in 27% and resulted in stabilisation (51%), worsening (34%), or improvement (15%) of inflammatory rheumatic disease. At the diagnosis of Tropheryma whipplei infection, all patients had rheumatological symptoms (mean age 58 years, median inflammatory rheumatic disease duration 79 months), 84% had extra-rheumatological manifestations, 93% had elevated C-reactive protein, and 86% had hypoalbuminemia. Treatment of Tropheryma whipplei infection consisted mainly of doxycycline plus hydroxychloroquine, leading to remission of Tropheryma whipplei infection in 79% of cases. Antibiotic treatment of Tropheryma whipplei infection was associated with remission of inflammatory rheumatic disease in 93% of cases and enabled disease-modifying antirheumatic drugs and glucocorticoid discontinuation in most cases. CONCLUSIONS: Tropheryma whipplei infection should be considered in inflammatory rheumatic disease patients with extra-articular manifestations, elevated C-reactive protein, and/or hypoalbuminemia before disease-modifying antirheumatic drugs initiation or in inflammatory rheumatic disease patients with an inadequate response to one or more disease-modifying antirheumatic drugs. Positive results of screening and diagnostic tests for Tropheryma whipplei infection involve antibiotic treatment, which is associated with complete recovery of Tropheryma whipplei infection and rapid remission of inflammatory rheumatic disease, allowing disease-modifying antirheumatic drugs and glucocorticoid discontinuation.
Asunto(s)
Antirreumáticos , Hipoalbuminemia , Enfermedades Reumáticas , Enfermedad de Whipple , Humanos , Persona de Mediana Edad , Tropheryma/fisiología , Glucocorticoides/uso terapéutico , Proteína C-Reactiva , Hipoalbuminemia/tratamiento farmacológico , Antibacterianos/uso terapéutico , Enfermedades Reumáticas/complicaciones , Enfermedades Reumáticas/tratamiento farmacológico , Antirreumáticos/uso terapéutico , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/epidemiologíaRESUMEN
A 49-year-old female presented with a 5-month course of diarrhoea, nocturn abdominal pain, asthenia, and weight loss of 30% of her body mass in three months. The patient had also a four-year medical history of bilateral mechanic gonalgy and arthralgias of the metacarpophalangeal and interphalangeal joints, despite treatment with prednisolone. On examination the patient had hyperpigmentation of the face and thorax, low-grade fever, and a BMI of 15,8 Kg/m2. Diarrhoea was documented with watery stools seven times per day despite loperamide, brownish, with no visible blood or mucous. Since the upper GI endoscopy and colonoscopy had no macroscopic abnormalities, the patient underwent a capsule endoscopy, which revealed continuous mucosal lesion with lymphangiectasia, oedema, villous atrophy and areas of denudation with hematinic punctate from the duodenum to the ileum. Diagnosis of Whipples Disease was made with typical histology findings in duodenum material and a positive PCR for Tropheryma whipplei. (AU)
Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Enfermedad de Whipple/diagnóstico por imagen , Enfermedad de Whipple/tratamiento farmacológico , Endoscopía , Colonoscopía , Endocarditis , Combinación Trimetoprim y Sulfametoxazol/uso terapéuticoRESUMEN
Immune reconstitution inflammatory syndrome (IRIS) is characterized by exaggerated and dysregulated inflammatory responses that occur as a result of reconstitution of adaptive or innate immunity. A wide range of microorganisms have been found to be associated with IRIS, such as human immunodeficiency virus (HIV), Mycobacterium and actinobacteria. Whipple disease (WD) is an infectious disorder caused by the Gram-positive bacterium Tropheryma whipplei (T. whipplei) and IRIS also serves as a complication during its treament. Although many of these pathological mechanisms are shared with related inflammatory disorders, IRIS in WD exhibits distinct features and is poorly described in the medical literature. Novel investigations of the intestinal mucosal immune system have provided new insights into the pathogenesis of IRIS, elucidating the interplay between systemic and local immune responses. These insights may be used to identify monitoring tools for disease prevention and to develop treatment strategies. Therefore, this review synthesizes these new concepts in WD IRIS to approach the feasibility of manipulating host immunity and immune reconstitution of inflammatory syndromes from a newer, more comprehensive perspective and study hypothetical options for the management of WD IRIS.
Asunto(s)
Actinobacteria , Síndrome Inflamatorio de Reconstitución Inmune , Reconstitución Inmune , Enfermedad de Whipple , Humanos , Enfermedad de Whipple/tratamiento farmacológico , Síndrome Inflamatorio de Reconstitución Inmune/etiología , Inmunidad InnataRESUMEN
A man in his 30s with intellectual disability presented with 1 month of diarrhoea, weight loss and dyspnoea. Investigations were hampered due to significant anxiety. Laboratory tests detected microcytic anaemia and hypoalbuminaemia. CT demonstrated a fat-containing infiltrate in the mediastinum, mesentery and axillae, and pulmonary ground-glass infiltrates. Biopsy of the axilla showed cystic lymphatic malformations involving adipose tissue and lymph nodes, leading to a provisional diagnosis of generalised lymphatic anomaly. Over the subsequent 4 months, the patient's respiratory status deteriorated, leading to type 1 respiratory failure necessitating intubation. After multidisciplinary discussion, a decision was made to trial bevacizumab, an anti-VEGF agent, with subsequent improvement in respiratory status. While intubated, gastroscopy was performed; duodenal biopsies revealed pathognomonic changes of Whipple's disease, confirmed on PCR of duodenal and axillae biopsies. This was deemed the most likely unifying diagnosis; antibiotic treatment was commenced, bevacizumab was ceased, and the patient has remained well after 18 months.
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Bevacizumab , Enfermedad de Whipple , Humanos , Masculino , Antibacterianos/uso terapéutico , Bevacizumab/uso terapéutico , Biopsia , Incertidumbre , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/patología , AdultoRESUMEN
OBJECTIVES: Whipple's disease (WD) is a rare and potentially fatal infectious disease caused by Tropheryma whipplei. It is characterized by a long prodromal phase that mimics a rheumatological disease, often leading to immunosuppressant treatment. Immune reconstitution inflammatory syndrome (IRIS) is currently the most important complication of WD, requiring prompt recognition and treatment as it can be fatal. However, epidemiological data on IRIS are scarce. We aimed to identify the clinical and laboratory predictors of IRIS at WD diagnosis and to evaluate whether the prevalence of IRIS has changed over time. METHODS: Forty-five patients with WD (mean age 52 ± 11 years; 10 females) were followed up between January 2000 and December 2021. Clinical and laboratory data at WD diagnosis were retrospectively collected and compared among patients who developed IRIS and those who did not. RESULTS: Erythrocyte sedimentation rate (ESR; 33.4 ± 11.8 mm/h vs 67.1 ± 26.3 mm/h, P < 0.01), platelet (PLT; 234 × 109 /L vs 363 × 109 /L, P < 0.01), and body mass index (22.0 ± 2.0 kg/m2 vs 19.8 ± 3.0 kg/m2 , P = 0.04) differed significantly between patients who subsequently developed IRIS and those who did not. ROC analysis identified ESR ≤46 mm/h (AUROC 0.88, 95% CI 0.72-1.00) and PLT ≤ 327 × 109 /L (AUROC 0.85, 95% CI 0.70-1.00) as optimal cut-off values to discriminate WD patients at a high risk of developing IRIS. Prevalence of IRIS remained stable (22.2%) over time. CONCLUSIONS: Low ESR and PLT count at diagnosis help identify WD patients at high risk of developing IRIS. Instead, a greater inflammatory response suggests a lower risk of IRIS. Prevalence of IRIS did not change over two decades.
Asunto(s)
Síndrome Inflamatorio de Reconstitución Inmune , Enfermedad de Whipple , Femenino , Humanos , Adulto , Persona de Mediana Edad , Estudios Retrospectivos , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/tratamiento farmacológico , Enfermedad de Whipple/epidemiología , Síndrome Inflamatorio de Reconstitución Inmune/etiología , Síndrome Inflamatorio de Reconstitución Inmune/complicaciones , Prevalencia , Inmunosupresores/uso terapéutico , Antibacterianos/uso terapéuticoRESUMEN
Whipple's disease is a rare infectious disease with multiple clinical manifestations. The disease is named after George Hoyt Whipple, who first recorded the illness in 1907 after conducting the autopsy of a 36-year-old man with weight loss, diarrhea, and arthritis. Under the microscope, Whipple discovered a rod-shaped bacterium in the patient's intestinal wall, which was not confirmed as a new bacterial species until 1992, when it was named Tropheryma whipplei.Recurrence of Whipple's disease can occur years after an initial diagnosis and often manifests with extraintestinal symptoms such as arthritides or skin efflorescences, years before a gastrointestinal complaint. However, the simultaneous occurrence of primary hyperparathyroidism in the present case is a hitherto unknown clinical picture and opens up new questions and perspectives in the context of diagnostics and therapy.
Asunto(s)
Antibacterianos , Enfermedad de Whipple , Masculino , Humanos , Adulto , Antibacterianos/uso terapéutico , Enfermedad de Whipple/complicaciones , Enfermedad de Whipple/diagnóstico , Enfermedad de Whipple/tratamiento farmacológico , Pérdida de Peso , Causalidad , Diarrea/tratamiento farmacológicoRESUMEN
BACKGROUND: Whipple's disease is a chronic infection due to Tropheryma whipplei, commonly reported in the Caucasian but not in the Chinese population. CASE PRESENTATION: A 52-year-old female with good past health, was diagnosed with Whipple's disease, presenting with constipation, unintentional weight gain, and fleeting polyarthralgia. Investigations prior to admission showed raised CA125 and computed tomography of the abdomen showed multiple retroperitoneal mesenteric lymphadenopathies. Extensive investigations performed on secondary causes of weight gain were unrevealing. Subsequent PET-CT scan revealed generalized lymphadenopathy involving the left deep cervical, supraclavicular, and retroperitoneal mesenteric area. Excisional biopsy of the left supraclavicular lymph node was performed, with histology showing infiltrations of Periodic acid-Schiff positive foamy macrophages. T. whipplei DNA was detected in her serum, saliva, stool, and lymph node by PCR targeting the 16S ribosomal RNA gene. She was started on intravenous ceftriaxone, and then stepped down to oral antibiotics for a total of 44 months. The recurrence of fever after 12 days of ceftriaxone raised the suspicion of Immune Reconstitution Inflammatory Syndrome (IRIS). Serial imaging showed a gradual reduction in the size of retroperitoneal lymphadenopathies. Literature review on Whipple's disease in the Chinese population identified 13 reports of detectable T. whipplei DNA in clinical specimens. The majority of the cases were pneumonia, followed by culture-negative endocarditis, encephalitis, and skin and soft tissue infection. However, most patients with pneumonia were diagnosed based on next generation sequencing alone, with the resolution of pulmonary infiltrates without adequate duration of antibiotics, suggesting the possibility of colonization instead of infection. The recommendation of long-term doxycycline suppression after treatment may be supported by the slow response of retroperitoneal lymphadenopathies to antibiotics in our patient. CONCLUSIONS: Unintentional weight gain and constipation could be atypical presentations of Whipple's disease. It is a rare disease in the Chinese population despite the advancement of molecular techniques in the diagnosis of infections. A prolonged course of antibiotics may be required due to slow clinical response as documented by serial imaging in our case. The possibility of IRIS should be considered in patients with breakthrough fever during treatment of Whipple's disease.