A case of progressive xanthogranulomatous pancreatitis with splenic abscess.

Xanthogranulomatous inflammation is a chronic inflammatory reaction microscopically characterized by aggregation of foamy histiocytes, fibrous tissue, and infiltration of various inflammatory cells. In contrast to xanthogranulomatous inflammation in the gallbladder or kidney, xanthogranulomatous pancreatitis is rare. We herein present a case of xanthogranulomatous pancreatitis in a patient who underwent distal pancreatectomy with splenectomy under preoperative suspicion of a pancreatic pseudocyst or pancreatic tumor. A 77-year-old woman with a 1 month history of epigastric pain, anorexia, and general fatigue was admitted to our hospital. Contrast-enhanced computed tomography revealed a cystic mass with ill-defined margins at the pancreatic tail together with a splenic abscess. Contrast-enhanced endoscopic ultrasound detected a hyperechoic cystic lesion at the tail of the pancreas with heterogeneous internal echogenicity, and part of the intra-cystic content was enhanced by the contrast agent. Endoscopic retrograde cholangiopancreatography showed a cystic lesion at the tail of the pancreas that continued into the main pancreatic duct, and the main pancreatic duct was slightly narrowed downstream of the cystic lesion. Pancreatic juice cytology revealed suspicious cells, leading to the possibility of intraductal papillary mucinous carcinoma. Distal pancreatectomy with splenectomy was performed, and the histopathological diagnosis was xanthogranulomatous pancreatitis with no malignant findings.

Factors associated with the presence of tendon xanthomas in familial hypercholesterolemia.

INTRODUCTION AND OBJECTIVES: Tendon xanthomas (TX) are lipid deposits highly specific to familial hypercholesterolemia (FH). However, there is significant variability in their presentation among FH patients, primarily due to largely unknown causes. Lipoprotein(a) is a well-established independent risk factor for atherosclerotic cardiovascular disease in the general population as well as in FH. Given the wide variability of lipoprotein(a) among FH individuals and the likelihood that TX may result from a proatherogenic and proinflammatory condition, the objective of this study was to analyze the size of TX in the Achilles tendons of FH participants and the variables associated with their presence, including lipoprotein(a) concentration. METHODS: A cross-sectional study was conducted on 377 participants with a molecular diagnosis of heterozygous FH. Achilles tendon maximum thickness (ATMT) was measured using ultrasonography with standardized equipment and procedures. Demographic variables and lipid profiles were collected. A multivariate linear regression model using a log-Gaussian approach was used to predict TX size. Classical cardiovascular risk factors and lipoprotein(a) were included as explanatory variables. RESULTS: The mean low-density lipoprotein cholesterol level was 277mg/dL without lipid-lowering treatment, and the median ATMT was 5.50mm. We demonstrated that age, sex, low-density lipoprotein cholesterol, and lipoprotein(a) were independently associated with ATMT. However, these 4 variables did not account for most the interindividual variability observed (R2=0.205). CONCLUSIONS: TX, a characteristic hallmark of FH, exhibit heterogeneity in their presentation. Interindividual variability can partially be explained by age, male sex, low-density lipoprotein cholesterol, and lipoprotein(a) but these factors account for only 20% of this heterogeneity.

Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.

AIMS: Three physical signs, namely tendon xanthomas, corneal arcus and xanthelasma, have been associated with heterozygous familial hypercholesterolemia (heFH). The prevalence and clinical significance of these signs are not well established among contemporary heFH individuals. This study explored the frequency as well as the association of these physical signs with prevalent atherosclerotic cardiovascular disease (ASCVD) in heFH individuals. METHODS: Data from the Hellenic Familial Hypercholesterolemia Registry were applied for this analysis. The diagnosis of heFH was based on the Dutch Lipid Clinic Network Score. Multivariate logistic regression analysis was conducted to examine the association of heFH-related physical signs with prevalent ASCVD. RESULTS: Adult patients ( n  = 2156, mean age 50 ±â€Š15 years, 47.7% women) were included in this analysis. Among them, 14.5% had at least one heFH-related physical sign present. The prevalence of corneal arcus before the age of 45 years was 6.6%, tendon xanthomas 5.3%, and xanthelasmas 5.8%. Among physical signs, only the presence of corneal arcus before the age of 45 years was independently associated with the presence of premature coronary artery disease (CAD). No association of any physical sign with total CAD, stroke or peripheral artery disease was found. Patients with physical signs were more likely to receive higher intensity statin therapy and dual lipid-lowering therapy, but only a minority reached optimal lipid targets. CONCLUSION: The prevalence of physical signs is relatively low in contemporary heFH patients. The presence of corneal arcus before the age of 45 years is independently associated with premature CAD.

Oral verrucous xanthoma with oral lichen planus: a case report.

Verrucous xanthoma is a rare benign muco-cutaneous lesion, whereas oral lichen planus is a chronic inflammatory disease relatively common in the clinical setting. Verrucous xanthoma and oral lichen planus can reportedly coexist according to foreign literature. Owing to the low incidence of verrucous xanthoma and the rarity of co-occurrence of these two diseases, the mechanism underlying the co-occurrence of the two diseases remains inconclusive. In this work, a case of oral verrucous xanthoma complicated with oral lichen planus was reported. Related literature was reviewed to discuss the clinical classification, pathological classification, and possible pathogenesis of the two diseases.

Verruciform xanthoma associated with lichen planus

Verruciform xanthoma (VX) is a rare benign lesion of unknown etiology, with a rough or papillary aspect, painless, sessile, well-defined, most lesions do not exceed 2 cm in their largest diameter, the degree of keratinization of the surface influences color, varying white to red, affecting mainly the gingiva and alveolar mucosa, and can also be seen in skin and genital. Herein, we present a report a clinical case of oral verruciform xanthoma in the buccal mucosa associated with the lichen planus lesion, as well as the morphological and immunohistochemical characteristics of the lesion. The clinical diagnostic hypothesis of oral lichen planus of the white reticular lesions on the buccal mucosa and on the tongue was confirmed by histopathology before a subepithelial connective tissue exhibiting intense inflammatory infiltrate in a predominantly lymphocytic band. In contrast, the hypothesis of the verrucous lesion in the left buccal mucosa was leukoplakia, with histopathological evidence showing exophytic and digitiform proliferations with parakeratin plugs between the papillary projections. Subepithelial connective tissue was characterized by macrophages with foamy cytoplasm (xanthoma cells). An immunohistochemical examination was performed, showing positivity for CD68, a macrophage marker, in addition to testing by Schiff's periodic acid (PAS) with diastasis, which was detected the presence of lipids inside these macrophages. The patient is free of recurrences of verruciform xanthoma and is being monitored due to the presence of lesions of oral lichen planus.

Ecografía en el diagnóstico y manejo de los xantomas tendinosos en la hipercolesterolemia familiar / Ultrasonography as a diagnostic and monitoring tool for the tendon xanthomas in familial hypercholesterolemia

No disponible

Xantomas y macrotrombocitopenia: sitosterolemia es la respuesta / Xanthomas and macrothrombocytopenia: sitosterolaemia is the answer

No disponible

Diagnóstico atípico mediante cápsula endoscópica: enfermedad de Whipple / Atypical diagnosis diagnosis by endoscopic capsule: Whipple´s disease

La enfermedad de Whipple es una infección sistémica crónica producida por el actinomiceto Tropheryma whipplei. Las pruebas endoscópicas son claves en el diagnóstico ya que permiten la toma de biopsia y su estudio anatomopatológico para el diagnóstico definitivo de esta entidad. Presentamos un caso de enfermedad de Whipple en el que la cápsula endoscópica, poco común para el diagnóstico de esta afección, fue clave para el mismo y su realización antes y después del tratamiento antibiótico permite describir la evolución macroscópica de los hallazgos en intestino delgado. Este caso ilustra la utilidad de la cápsula endoscópica al permitir un estudio completo del intestino delgado en esta enfermedad en la que hasta el 30% de los pacientes puede cursar con gastroscopia normal (AU)

Whipple´s disease is a chronic systemic infection produced by the actinomycete Tropheryma whipplei. Endoscopic tests are key in the diagnosis as they allow biopsy and histopathological examination for definitive diagnosis of this entity. We present a case of Whipple´s disease where capsule endoscopy, uncommon for the diagnosis of this condition, was essential for it and its performance before and after antibiotic treatment allows to describe the macroscopic evolution of the findings in the small bowel. This case illustrates the utility of capsule endoscopy to allow complete examination of the small bowel disease in which up to 30% of patients may present with normal endoscopy (AU)

Critérios diagnósticos e estratificação de risco na hipercolesterolemia familiar / Criteria diagnosis and risk stratification of familial hypercholesterolemia

A hipercolesterolemia familiar (HF) é uma doença genética relativamente comum caracterizada por níveis elevados de LDL-colesterol (LDL-C) e, por conseguinte, associada a risco de desenvolvimento prematuro de doença cardiovascular aterosclerótica. O tratamento hipolipemiante reduz significativamente o risco cardiovascular desses pacientes, tornando fundamental a identificação precoce desses indivíduos, seguida de tratamento adequado assim que possível. Para tanto, existem escores diagnósticos de HF, como o escore holandês Dutch Lipid Clinic Network, que avalia níveis de LDL-C, antecedente familiar e/ou pessoal de evento cardiovascular isquêmico e a presença de sinais físicos, como xantomas. Uma vez feito o diagnóstico de HF, torna-se muito importante a estratificação de risco desses pacientes. A identificação de fatores de risco associados (como tabagismo,diabetes mellitus, hipertensão arterial, aumento de Lp(a), entre outros) aliada ao uso de métodos para detecção de doença aterosclerótica subclínica em indivíduos com HF pode auxiliar na identificação daqueles que têm maior risco cardiovascular e são candidatos a estratégias mais agressivas de redução de LDL-C. Nesse artigo, revisamos os principais critérios diagnósticos de HF e a estratificação de risco desses pacientes

Familial hypercholesterolemia (FH) is a relatively common genetic disease that is characterized by elevated LDL-cholesterol (LDL-C) levels. As a consequence, it is associated with the risk of premature development of atherosclerotic cardiovascular disease.Lipid-lowering therapies significantly reduces the cardiovascular risk in these patients, making early identification of these individuals essential, followed by adequate treatment as soon as possible. There are diagnostic scores of FH for this purpose, such as the Dutch Lipid Clinic Network score, which evaluates LDL-C levels, family history and/or personal history of ischemic cardiovascular event and the presence of physical signs, such as xanthomas. Once FH has been diagnosed, it is very important to stratify the risk in these patients. The identification of associated risk factors (such as smoking, diabetes mellitus, high blood pressure, elevated Lp(a), among others), together with the use of methods to detect subclinical atherosclerotic disease in individuals with FH, can assist in the identification of those with a higher cardiovascular risk, and who are therefore candidates for more aggressive strategies to reduce LDL-C. This article gives a review of the main diagnostic criteria of FH, and the risk stratification in these patients

Sitosterolemia en paciente de 2 años con xantomas y alteraciones hematológicas / Sitosterolemia in a 2 year-old child with xanthomas and hematological anomalies

No disponible

Placas similares a xantomas como forma de presentación de una histiocitosis de células de Langerhans en un paciente en edad adulta / Adult Onset Langerhans Cell Histiocytosis Diagnosed With Xanthomalike Plaque

No disponible

Urinary bladder xanthoma: two case reports and a review of the literature / Xantoma vesical: Presentación de dos casos y revisión bibliográfica

OBJECTIVE: We present two rare cases of bladder xanthomata associated with transitional cell carcinoma. Method and results: Cases description and selection of related pictures. Review of the existing literature. CONCLUSIONS: Xanthomata are non-neoplastic lesions consisting of group of foamy lipidstoring histiocytes in the dermis of skin or in the lamina propria of mucosa. Urinary bladder is an uncommon localization for these lesions and their etiology isn't still well understood, being variably associated with abnormalities of lipid metabolism. Although sometimes they are described in association with urothelial neoplasms, they were not believed to have any biological neoplastic potential and so they are treated consequently

OBJETIVO: Presentamos dos raros casos de Xantoma vesical asociado con carcinoma de células transicionales. MÉTODOS Y RESULTADOS: Descripción de los casos y selección de imágenes relacionadas. Revisión de la bibliografía existente. CONCLUSIONES: Los xantomas son lesiones no neoplásicas constituidas por grupos de histiocitos espumosos almacenadores de lípidos en la dermis cutánea o en la lámina propia de la mucosa. La vejiga urinaria es una localización rara de estas lesiones y su etiología no se entiende bien todavía, asociándose variablemente con anomalías del metabolismo lipídico. Aunque a veces se describen en asociación con neoplasias uroteliales, no se piensa que tengan ningún potencial neoplásico y consecuentemente así se tratan

Simultaneous Xanthogranulomatous Cholecystitis and Gallbladder Cancer in a Patient with a Large Abdominal Aortic Aneurysm

There have been reports of the coexistence of abdominal aortic aneurysm (AAA) with intra-abdominal malignancy including gastric, colonic, pancreatic, and renal. We herein report a case of a previously undiagnosed AAA and a presenting complaint consistent with acute cholecystitis. Following cholecystectomy, this was noted to be a rare form of chronic cholecystitis: xanthogranulomatous cholecystitis. There is a known possible association of this uncommon condition with gallbladder cancer. The management of concomitant pathologies can present a real challenge to the multidisciplinary team, especially with large aneurysms.

Diffuse plane xanthomatosis associated with monoclonal gammopathy / Xantomatose plana difusa associada a gamopatia monoclonal

Diffuse plane normolipemic xanthomatosis (DPNX) is a rare, non-inherited disease that is often associated with systemic diseases, mainly malignant hematological (especially multiple myeloma) or lymph proliferative disorders. The DPNX can precede the appearance of such conditions by several years, so careful follow-up and periodic laboratory examinations are recommended even for patients that seemed to have no underlying disease. We describe a case associated with monoclonal gammopathy. This case shows that dermatological lesions can be the first manifestation of important hematological diseases and so physicians should be familiarized with this entity.

A xantomatose plana difusa normolipêmica (XPDN) é uma dermatose adquirida rara, muitas vezes associada a doenças sistêmicas, nomeadamente neoplasias hematológicas(sobretudo o mieloma múltiplo) ou a processos linfoproliferativos. A XPDN pode preceder o aparecimento dessas doenças em vários anos, sendo por isso recomendada uma vigilância clínica e laboratorial periódica, mesmo para os doentes que aparentemente não apresentam uma doença associada. Descrevemos um caso associado à gamopatia monoclonal. Este caso demonstra a importância das manifestações cutâneas como primeira manifestação de doenças hematológicas importantes e por isso os clínicos devem estar familiarizados com esta entidade.

Xanthogranulomatous Pancreatitis Presents as a Solid Tumor Mass: A Case Report

Xanthogranulomatous inflammation (XGI) is a rare, idiopathic process in which lipid-laden histiocytes are deposited at various locations in the body. Although XGI has been reported to occur in various organs such as the gallbladder, kidney, bone, stomach, colon, appendix, lymph nodes, urachus, and urinary bladder and in soft tissues, xanthogranulomatous pancreatitis (XGP) is extremely rare. Herein, we report a case of XGP occurring in a 70-yr-old woman, who presented with abdominal pain for several months. On physical examination, mild epigastric tenderness was noted. Abdomen CT scan revealed a low attenuated mass in uncinate process of pancreas, suggesting malignant lesion. Whipple's operation was performed and the final pathologic diagnosis was XGP. The patient's post-operative course was uneventful, and no recurrence was found within 7 months of the operation. When a pancreatic mass does not show clinico-radiological features typical of common pancreatic neoplasms, XGP should be considered for a differential diagnosis.

Xantoma plano difuso normolipêmico idiopático com hiperesplenismo / Diffuse plane idiopathic normolipemic xanthoma with hiperesplenism

O xantoma plano difuso normolipêmico é doença rara, do grupo das histiocitoses, caracterizada pelo aparecimento de placas amareladas ou amarelo-alaranjadas, distribuídas simetricamente na pele e geralmente acompanhadas por xantelasma. Acomete principalmente adultos, podendo ou não apresentar alterações discretas dos lípides séricos. Relata-se o caso de uma paciente do sexo feminino, de 85 anos, há um ano com extensas placas amarelo-alaranjadas no tronco e abdome, assintomáticas. Os exames laboratoriais não demonstraram aumento dos lípides séricos, nem ocorrência de desordens retículo-endoteliais.

Diffuse plane normolipemic xanthoma is a rare disease, of a group of clinical syndromes called histiocytoses, characterized by the presence of yellowish or yellow-orange plaques, distributed symmetrically on the cutaneous surface and usually accompanied by xanthelasma. It affects mainly adults and it may cause discrete changes in serum lipids. The case of an 85-year-old female patient who has been showing extensive asymptomatic yellow-orange plaques in the trunk and abdomen for a year is reported. Laboratory tests did not show an increase in serum lipids or the occurrence of reticuloendothelial disorders.