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Clinical Case Reports Jun 2024Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are...
KEY CLINICAL MESSAGE
Managing diabetic ketoacidosis (DKA) in individuals with severe dyslipidemia necessitates a comprehensive approach. While rehydration and continuous insulin infusion are fundamental components of DKA management due to the underlying insulin deficiency, the presence of severe hyperlipidemia with eruptive xanthomas warrants additional consideration. Early initiation of lipid-lowering agents can expedite the resolution of cutaneous lesions and substantially mitigate the risk of severe complications such as pancreatitis, along with attenuating long-term cardiovascular risks.
ABSTRACT
Xanthomas are the benign lesions which are generated by localized lipid deposits in the skin, tendons, and subcutaneous tissue. They appear clinically as yellowish papules, nodules, or plaques. Acute pancreatitis and eruptive xanthomas can occur as complications of hyperlipidemia. Uncontrolled diabetes mellitus in one of the risk factors for hypertriglyceridemia. Early recognition and treatment of the eruptive xanthomatosis as a warning sign of hypertriglyceridemia can decrease the morbidity and mortality due to acute pancreatitis. Here, we discuss a case of 37-years old female patient with uncontrolled type II diabetes mellitus presented with acute pancreatitis and eruptive xanthomas as result of raised triglycerides and uncontrolled diabetes.
PubMed: 38799544
DOI: 10.1002/ccr3.8926 -
The American Journal of Case Reports May 2024BACKGROUND The gallbladder develops from the hepatic diverticulum during the fourth week of gestation, which also give rise to the liver, extrahepatic biliary ducts, and... (Review)
Review
BACKGROUND The gallbladder develops from the hepatic diverticulum during the fourth week of gestation, which also give rise to the liver, extrahepatic biliary ducts, and ventral part of the pancreas. Infrequently, the gallbladder has malformation or disruption in embryogenesis, leading to congenital anomalies. There are various congenital anomalies that can arise in the gallbladder. True or congenital diverticulum of the gallbladder is a rare entity that accounts for only 0.06% of gallbladder congenital anomalies and 0.0008% of cholecystectomies at the Mayo Clinic. CASE REPORT Herein, we report a rare case of a 38-year-old woman who presented to Jubail General Hospital's surgery clinic with right upper-quadrant (RUQ) pain associated with vomiting after meals for 1 month. Laparoscopic cholecystectomy was done and gallbladder tissue was sent to histopathology. Gross examination revealed an outpouching mucosa within the wall that was proven to consist of muscularis and serosa layers under light microscope. Interestingly, xanthogranulomatous inflammation was confined to the diverticulum, unlike the chronic inflammation involving the remaining gallbladder. Based on the above findings, the diagnosis of congenital diverticulum with xanthogranulomatous cholecystitis was made. CONCLUSIONS Gallbladders associated with a true diverticulum are uncommonly found to be buried in the liver, leading to surgical difficulties during cholecystectomy. Therefore, background knowledge of occasional anomalies plays a crucial role in guiding the surgeon to choose the optimal method of management. We also discuss the associated complications that accompany these anomalies, such as non-specific prolonged ailments, acalculous cholecystitis, cholecystitis and cholelithiasis, recurrent cholangitis, and carcinoma of the gallbladder.
Topics: Humans; Female; Adult; Xanthomatosis; Cholecystitis; Diverticulum; Gallbladder; Granuloma; Cholecystectomy, Laparoscopic
PubMed: 38755958
DOI: 10.12659/AJCR.943843 -
Heliyon May 2024To study ocular manifestations of patients with severe familial hypercholesterolemia (FH).
BACKGROUND
To study ocular manifestations of patients with severe familial hypercholesterolemia (FH).
METHODS
In this population-based case-control study, patients suffering from severe familial hypercholesterolemia from the Lebanese Familial Hypercholesterolemia Registry, along with age and gender-matched healthy controls were recruited. All participants underwent a comprehensive eye examination, and patients underwent fluorescein angiography as well. Logistic regression models were used to identify any association between patients with severe familial hypercholesterolemia and abnormal eye findings, while adjusting for hypertension and pack-year smoking. The main outcome measure of this study was the development of ocular vascular abnormalities.
RESULTS
28 patients and 28 controls were recruited. Patients with severe familial hypercholesterolemia had significantly greater odds of developing corneal arcus and xanthelasmas than the control group (p < 0.001). Retinal vascular abnormalities (plaques) were exclusively and more significantly present in patients with familial hypercholesterolemia (18 %). Similarly, retinal arteriosclerosis was exclusively and significantly more prevalent in the familial hypercholesterolemia group (p < 0.001, adjusted odds ratio 6.8). Stratification by LDL levels and genotypes did not show any significant change in the prevalence of any ocular finding.
CONCLUSION
In addition to the well-established increase in incidence of corneal arcus and xanthelasmas, severe familial hypercholesterolemia patients have more prevalent retinal vascular abnormalities that include vascular plaques and arteriosclerosis.
PubMed: 38737271
DOI: 10.1016/j.heliyon.2024.e30487 -
Journal of Cutaneous and Aesthetic... 2024Xanthelasma palpebrarum (XP) is a benign cosmetic condition. Although the role of CO laser is well described, there are only a few studies on Erbium: YAG in XP....
A Clinical and Dermatoscopic Perspective of the Efficacy and Safety of Erbium: YAG Laser Ablation Versus 50% Trichloroacetic Acid for the Management of Xanthelasma Palpebrarum.
UNLABELLED
Xanthelasma palpebrarum (XP) is a benign cosmetic condition. Although the role of CO laser is well described, there are only a few studies on Erbium: YAG in XP. Similarly, trichloroacetic acid (TCA) is commonly used in XP. However, there are only a few studies comparing these modalities in the treatment of XP.
AIM
To evaluate the effectiveness and safety of Erbium: YAG laser and 50% TCA in the treatment of XP with the role of dermoscope in the evaluation of lesions.
MATERIALS AND METHODS
A total of 20 subjects were randomly allocated into two groups: group A (TCA) and group B (laser). All patients were subcategorized into three grades viz. I (mild), II (moderate), and III (severe) using a self-devised scoring system.
RESULTS
About 25% and 70% of patients achieved complete clearance in groups A and B, respectively ( = 0.017). The rate of recurrence was 40% and 15% in groups A and B. Dyspigmentation and erythema were the most common side effects. Pretreatment dermoscopic evaluation of the lesion showed a network of brown streaks on a background of a yellowish structureless area and was used to assess the area and margins of the lesion where the adipose tissue was found during the procedure and serial assessment of the lesion.
PubMed: 38736854
DOI: 10.4103/JCAS.JCAS_157_22 -
Journal of Medical Case Reports May 2024A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor.
BACKGROUND
A xanthoma is a rare bone condition consisting of a predominant collection of lipid-rich, foamy histiocytes. The central xanthoma of the jaws is a unique benign tumor.
CASE REPORT
A 15-year-old Caucasian male has been presented to our department. He had radiological changes in the area of the left mandibular angle, with an area of diffuse osteolysis of 3.0 cm by 2.0 cm. Computed tomography reveals an area of diffuse osteolysis that starts from the distal root of the lower second molar and reaches the ascending process. A bone biopsy was performed, which revealed a benign proliferative process composed of histiocytic cells involving and infiltrating trabecular bone in a background of loose fibrous connective tissue devoid of any other significant inflammatory infiltrate. The size of the formation was 2.9 cm by 2.0 cm. Immunohistochemical staining for CD68 was strongly positive and negative for S-100 and CD1a. From routine blood tests, cholesterol, triglycerides, and blood sugar are within normal values, which excludes systemic metabolic disease. Subsequent to the surgical intervention, the patient underwent postoperative assessments at intervals of 14, 30, 60 days, and a year later, revealing the absence of any discernible complications during the aforementioned observation periods.
CONCLUSION
The diagnosis of primary xanthoma of the mandible is rare and can often be confused with other histiocytic lesions. A differential diagnosis should be made with nonossifying fibroma and Langerhans cell histiocytosis, as in our case. In these cases, immunohistochemistry with CD 68, S-100, and CD1a, as well as blood parameters, are crucial for the diagnosis.
Topics: Humans; Male; Adolescent; Xanthomatosis; Mandibular Diseases; Tomography, X-Ray Computed; Mandible; Biopsy
PubMed: 38711147
DOI: 10.1186/s13256-024-04534-y -
Medicine Apr 2024Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic... (Review)
Review
RATIONALE
Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases.
PATIENT CONCERNS
A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as "hairy kidneys." He underwent. Three bone biopsies were unsuccessful to reach diagnosis.
DIAGNOSES
A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E.
INTERVENTIONS
The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs.
OUTCOMES
At the 1-year follow-up, there was only progression of chronic kidney disease (CKD).
LESSONS
The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.
Topics: Humans; Erdheim-Chester Disease; Male; Aged; Proto-Oncogene Proteins B-raf; Vemurafenib
PubMed: 38669404
DOI: 10.1097/MD.0000000000037870 -
Medicine Apr 2024Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the...
INTRODUCTION
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid metabolism disorder. It is caused by a defect in the sterol-27-hydroxylase gene, leading to the deposition of cholesteryl and bile alcohol in large amounts, causing a variety of clinical manifestations; however, tremor as the main manifestation of CTX has not been reported.
PATIENTS CONCERNS AND CLINICAL FINDINGS
Herein, we report a 27-year-old woman, who developed head and body tremors at the age of 12 years. Many hospitals misdiagnosed her condition as idiopathic tremor and Parkinson disease, with a poor curative effect.
PRIMARY DIAGNOSIS AND INTERVENTION
We diagnosed her with CTX and treated with chenodeoxycholic acid and clonazepam.
CONCLUSION
The patient's condition considerably improved. This case could help avoid misdiagnosis and mistreatment in clinical practice.
Topics: Humans; Xanthomatosis, Cerebrotendinous; Female; Adult; Tremor; Chenodeoxycholic Acid; Clonazepam; Diagnosis, Differential
PubMed: 38669366
DOI: 10.1097/MD.0000000000037976 -
Frontiers in Immunology 2024Xanthelasma palpebrarum (XP) is the most common form of cutaneous xanthoma, with a prevalence of 1.1%~4.4% in the population. However, the cause of XP remains largely...
Xanthelasma palpebrarum (XP) is the most common form of cutaneous xanthoma, with a prevalence of 1.1%~4.4% in the population. However, the cause of XP remains largely unknown. In the present study, we used Mendelian randomization to assess the genetic association between plasma lipids, metabolic traits, and circulating protein with XP, leveraging summary statistics from large genome-wide association studies (GWAS). Genetically predicted plasma cholesterol and LDL-C, but not HDL-C or triglyceride, were significantly associated with XP. Metabolic traits, including BMI, fasting glucose, type 2 diabetes, systolic and diastolic blood pressure, were not significantly associated with XP. Furthermore, we found genetically predicted 12 circulating proteins were associated with XP, including FN1, NTM, FCN2, GOLM1, ICAM5, PDE5A, C5, CLEC11A, CXCL1, CCL2, CCL11, CCL13. In conclusion, this study identified plasma cholesterol, LDL-C, and 12 circulating proteins to be putative causal factors for XP, highlighting the role of plasma cholesterol and inflammatory response in XP development.
Topics: Humans; Diabetes Mellitus, Type 2; Genome-Wide Association Study; Mendelian Randomization Analysis; Cholesterol; Xanthomatosis; Membrane Proteins
PubMed: 38601164
DOI: 10.3389/fimmu.2024.1347112 -
Lipids in Health and Disease Mar 2024To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of...
OBJECTIVE
To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.
METHODS
In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phytosterol levels, cardiac/carotid artery ultrasounds, fundus examinations, and treatment were collected.
RESULTS
The majority (19, 73.1%) of the 26 patients exhibited xanthomas as the most prevalent manifestation. The second most common symptoms were joint pain (7, 26.9%) and stunted growth (4, 15.4%). Among the 24 (92.3%) patients whose genetics were analyzed, 16 (66.7%) harbored ABCG5 variants (type 2 sitosterolemia), and nearly one-third (8, 33.3%) harbored ABCG8 variants (type 1 sitosterolemia). Additionally, the most common pathogenic ABCG5 variant was c.1166G > A (p.Arg389His), which was found in 10 patients (66.7%). Further analysis did not indicate any significant differences in pathological traits among those carrying ABCG5 and ABCG8 variations (P > 0.05). Interestingly, there was a greater abundance of nonsense variations in ABCG5 than in ABCG8 (P = 0.09), and a greater frequency of splicing variations in ABCG8 than ABCG5 (P = 0.01). Following a change in diet or a combination of ezetimibe, the levels of cholesterol and low-density lipoprotein were markedly decreased compared to the levels reported before treatment.
CONCLUSION
Sitosterolemia should be considered for individuals presenting with xanthomas and increased cholesterol levels. Phytosterol testing and genetic analysis are important for early detection. Managing one's diet and taking ezetimibe can well control blood lipids.
Topics: Humans; Child; Lipoproteins; ATP Binding Cassette Transporter, Subfamily G, Member 5; Phytosterols; Cholesterol; Ezetimibe; Xanthomatosis; Hypercholesterolemia; Intestinal Diseases; Lipid Metabolism, Inborn Errors
PubMed: 38509578
DOI: 10.1186/s12944-024-02077-1 -
Beyoglu Eye Journal 2024Xanthelasma palpebrarum (XP) is the most common type of cutaneous xanthoma, characterized by yellowish cutaneous plaques commonly located near the medial canthus of the...
OBJECTIVES
Xanthelasma palpebrarum (XP) is the most common type of cutaneous xanthoma, characterized by yellowish cutaneous plaques commonly located near the medial canthus of the eyelid. Although dyslipidemia significantly contributes to its development, inflammation is also believed to be another element in the pathogenesis, especially in normolipidemic patients. Recently, cell counts derived from complete blood counts have been identified as indicators of systemic inflammatory conditions and have also been under discussion concerning their relevance to ocular diseases. This study aimed to assess inflammation indices derived from complete blood cell counts (CBC) in XP patients with normal lipid levels.
METHODS
Patients who had been referred to the oculoplasty department with the diagnosis of XP between January 2020 and January 2023 and age-matched control subjects were retrospectively reviewed. Patients who had abnormal lipid profiles and systemic diseases such as diabetes mellitus, hypertension, malignancy, cardiovascular diseases, systemic infections, and inflammatory diseases were not included in the study. CBC parameters were analyzed and compared between the groups.
RESULTS
The study comprised 27 normolipidemic patients with XP and 27 age-matched healthy individuals as the control group. There were no statistically significant differences between the two groups in terms of age (p=0.143). The mean hemoglobin, neutrophil, monocyte, lymphocyte, platelet, neutrophil-to-lymphocyte ratio, monocyte-to-lymphocyte ratio, systemic immune-inflammation index, and aggregate index of systemic inflammation values were higher in the patient group, but the differences were not statistically significant (p>0.05). The mean red cell distribution width and platelet-to-lymphocyte ratio appeared to be lower in the patient group compared to the control group; however, no significant differences were observed between the two groups (p=0.272, p=0.387, respectively).
CONCLUSION
This study might offer insights into the pathogenesis of XP, yet numerous questions remain unanswered, awaiting further investigation in future studies.
PubMed: 38504961
DOI: 10.14744/bej.2024.48802