Case Report: Acute Pancreatitis in an Uncontrolled Diabetic Patient Presenting With a Skin Rash Later Found to Be Eruptive Xanthoma, a Dermatological Manifestation and Diagnostic Clue to Recognizing Hypertriglyceridemia as the Cause of Disease.

Acute pancreatitis results from any insult that leads to inflammation of the organ. Hypertriglyceridemia is one of the risk factors associated with acute pancreatitis. The typical presentation is abdominal pain, nausea, and vomiting. We present a unique case in which the patient's condition was further complicated by diabetic ketoacidosis. Consequently, he presented somnolent to the emergency room, providing a limited history only pertaining to generalized weakness and a skin rash. The patient was found to have hypertriglyceridemia-induced pancreatitis, which was appropriately managed in the intensive care unit. The skin lesions were diagnosed as xanthomas, which are associated with hypertriglyceridemia and acute pancreatitis secondary to hypertriglyceridemia. The patient was discharged on fibrate therapy, dietary counseling, and strict monitoring by his primary care physician. This unique case highlights the importance of recognizing dermatological conditions and their associated diseases to allow for prompt diagnosis and treatment in the face of limited history.

Eruptive xanthoma as a warning sign of uncontrolled hypertriglyceridemia presenting with acute pancreatitis and uncontrolled type II diabetes mellitus: A case report.

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.

Management of Asymptomatic Severe Hypertriglyceridemia With Oral Therapy Only: A Case Study Shedding Light on Treatment Approaches and Potential Complications.

We present a rare case of a 52-year-old male with asymptomatic severe hypertriglyceridemia exceeding 11,000 mg/dL, managed initially with oral therapy without the need for an insulin drip or plasmapheresis. However, due to non-compliance at home, the patient subsequently developed pancreatitis requiring treatment with an insulin drip. He was discharged on a regimen of fenofibrate, rosuvastatin, and omega-3, with no further episodes of symptoms. Asymptomatic patients with severe hypertriglyceridemia and a low risk of developing symptoms can be safely managed through close monitoring, statin, fibrate therapy, and lifestyle modifications, but the risk of acute pancreatitis persists with elevated triglyceride levels of over 500 mg/dL and a marked increase in risk with a triglyceride level of greater than 880 mg/dL.

Eruptive Xanthomas Precipitated by Severe Hypertriglyceridemia From Diabetes and Alcohol Use.

Hypertriglyceridemia is a common abnormality found in patients in the clinical setting. Severe hypertriglyceridemia may manifest phenotypically as eruptive xanthomas, which are red or yellow papules found on the skin, most commonly on extensor surfaces and buttocks. We present a case of severe hypertriglyceridemia in a patient found in the outpatient setting, which manifested as eruptive xanthomas in his posterior upper arms, back, buttocks, axilla, and legs. Laboratory testing of his lipid profile revealed extremely high triglyceride levels, and the patient was immediately referred to the nearest hospital where he was admitted to the intensive care unit (ICU). He was promptly managed with a low-fat diet, anti-hypertriglyceridemic agents, and insulin infusion, with a dramatic reduction in triglyceride levels. He subsequently underwent a skin biopsy which confirmed the diagnosis of eruptive xanthoma. Rapid reduction in triglyceride levels is instrumental in the prevention of complications, most notably, acute pancreatitis. This article highlights the importance of a high index of suspicion for recognition of the signs and symptoms of severe hypertriglyceridemia, as well as the different management options available for the control of triglyceride levels and the prevention of complications.

A case of congenital systemic lipodystrophy with exfoliated xanthoma caused by AGPAT2 gene mutation / 基础医学与临床

Objective To analyze the clinical characteristics and genotype of a patient with congenital systemic lip-odystrophy(CGL)type 1 associated with exudative xanthoma caused by AGPAT2 gene mutation,and to provide ev-idence for clinical and genetic diagnosis of the disease.Methods Clinical data of the patient such as medical histo-ry,physical examination and laboratory examination were collected.Peripheral venous blood was collected for whole exome sequencing analysis and Sanger sequencing verification,and treatment was provided to patients according to the changes of condition.Results The clinical manifestations of the patient were subcutaneous fat reduction,fatty liver,spleen enlargement,kidney enlargement,high blood sugar and lipids,severe insulin resistance,scattered yellow rash on limbs,which was confirmed as xanthoma.The results of whole exon sequencing showed that the AGPAT2 gene of the patient had a heterozygous nonsense mutation of c.202C＞T:p.R68?and c.646A＞T:p.K216?,and the former was the pathogenic mutation site.Follow-up therapy covers improvement of lifestyle,low-fat diet and regular exercise.The rashes subsided after active lipid-lowering therapy.Conclusions Apart from typical lipody-strophy,the patient was accompanied by exanthemous xanthoma.No CGL1 patient with exanthemous xanthoma has been reported in the domestic literature database up to now,and the genetic test results showed that there was a c.202C＞T heterozygous mutation of AGPAT2 gene.This gene site has not been reported in the literature,and its functional verification needs to be further studied.

Eruptive Xanthomas: Importance of Recognition to Reduce Delay of Effective Triglyceride Reduction.

Eruptive xanthomas are localized lipid deposits in the dermis and an important early clue to severe hypertriglyceridemia. These small erythematous or yellow papules that localize to the extensor surfaces of extremities, buttocks, and the back are often overlooked during routine visits secondary to poor familiarity and limited skin examinations. We present 3 cases of patients with eruptive xanthomas and severe hypertriglyceridemia who underwent skin biopsy and waited weeks to years before receiving effective treatment. We suggest the following to minimize the delay between presentation and effective management. First, perform a comprehensive skin examination. Second, be mindful of the association between metabolic syndrome or diabetes with severe hypertriglyceridemia. Third, evaluate the Four D's of secondary hypertriglyceridemia: Diet/Lifestyle, Drugs/Medications, and Diseases/Disorders of metabolism. Finally, initiate effective treatment promptly after recognition. This includes beginning with a minimal fat diet and appropriate pharmacological intervention to control triglycerides as outlined in recent guidelines.

Eruptive Xanthomas as Cutaneous Manifestation of Familial Combined Dyslipidaemia in an Eleven-year-old: A Case Report.

Xanthomas are subcutaneous lipid deposits containing macrophages loaded with cholesterol and cholesterol esters. Although quite common in adults, xanthomas in pediatric population are infrequent and when present, may represent a cutaneous manifestation of underlying lipoprotein disorders which most often are familial. We report a case of an eleven-year-old female child, with multiple eruptive xanthomas of skin since two years of age, a positive family history and deranged lipid profile consistent with possible familial hypercholesterolemia.

A new presentation of isolated cutaneous Rosai-Dorfman disease: Eruptive xanthoma-like lesions.

Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy is a benign lympho-histiocytic proliferative disorder initially described with bilateral painless lymphadenopathy (90 %), fever, leukocytosis, elevated ESR, anemia, and polyclonal hypergammaglobulinemia (90 %). Extranodal forms occur in 43% of cases, the skin being the most common site. Around 10% of patients have skin lesions and in 3%, the disease is limited exclusively to the skin. Here, we report a male patient who presented with pure cutaneous lesions which mimic eruptive xanthoma clinically. However, the diagnosis was established histo pathologically. So, high level of clinical suspension is critical to avoid missing such cases.

Eruptive xanthoma associated with severe hypertriglyceridemia and poorly controlled type 1 diabetes mellitus.

Eruptive xanthoma is characterized by yellowish skin papules encircled by an erythematous halo and associated with severe hypertriglyceridemia above 2,000 mg/dl. Hypertriglyceridemia can be caused by primary genetic mutations, secondary causes, such as uncontrolled diabetes, obesity, alcohol overuse, or combinations of both. Eruptive xanthoma can serve as an important clinical indicator of underlying systemic conditions (e.g. hypertriglyceridemia and uncontrolled diabetes mellitus). It is important for clinicians to recognize it to prevent further complications such as pancreatitis and cardiovascular disease.

Eruptive xanthomas in a patient with soft-drink diabetic ketosis and apolipoprotein E4/2.

Soft-drink diabetic ketosis, characterized by acute onset ketosis induced by excessive ingestion of sugar-containing drinks, is often seen in obese, young patients, even with undiagnosed type 2 diabetes. We herein report a 15-year-old obese patient with the apolipoprotein E4/2 phenotype, in whom eruptive xanthomas lead to a diagnosis of soft-drink diabetic ketosis. He developed multiple asymptomatic yellowish papules on the auricles, back, buttocks and the extensor surfaces of the elbows and knees. He initially visited a dermatology clinic and his blood triglyceride and HbA1c levels were found to be 6,490 mg/dL and 16.5%, respectively. He was referred to our hospital for treatment of hyperglycemia and hypertyriglyceridemia. On admission, he had ketonuria and increased blood levels of 3-hydroxybutylate and acetoacetate. He habitually drank 1-3 litters of sweet beverages daily to quench his thirst. Therefore, "soft-drink diabetic ketosis" was diagnosed. Severe hypertriglyceridemia was considered to have been a consequence of impaired insulin action and his apolipoprotein E4/2 phenotype. We treated the diabetic ketosis and hypertriglyceridemia with intensive insulin therapy and a fat-restricted diet. At discharge, he no longer required insulin therapy and his blood glucose levels were controlled with metformin and voglibose. Along with amelioration of the hyperglycemia, triglyceride levels decreased to 247 mg/dL without administration of anti-hyperlipidemia agents. The eruptive xanthoma lesions gradually diminished in size and number and eventually disappeared by 12 months. This case provides an instructive example of eruptive xanthomas serving as a sign of severe dysregulation, not only of lipid, but also glucose, metabolism.

Severe hypertriglyceridemia presenting as eruptive xanthomatosis.

Eruptive xanthomatosis is described as the sudden eruption of erythematous yellow papules in the presence of hypertriglyceridemia, often associated with serum triglyceride levels above 2000 mg/dl. Severe hypertriglyceridemia can be caused by primary genetic mutations, secondary chronic diseases, or a combination of both. Uncontrolled diabetes mellitus is a known risk factor. It is imperative for physicians to be aware of eruptive xanthomatosis as a warning sign for severe hypertriglyceridemia due to the underlying risk for the potentially fatal complication of acute pancreatitis. Herein, we discuss a case of a 52-year-old man with uncontrolled diabetes mellitus who presented with eruptive xanthomata and a triglyceride level of 7157 mg/dl, the highest recorded value in the absence of acute pancreatitis, with a remarkable response to drug therapy. A review of the literature is included to discuss the clinical relevance and appropriate treatment of this disease entity.

Co-occurrence of heterozygous CREB3L3 and APOA5 nonsense variants and polygenic risk in a patient with severe hypertriglyceridemia exacerbated by estrogen administration.

We describe a case of a 36-year-old woman with severe hypertriglyceridemia likely caused by double heterozygosity of a known pathogenic APOA5 nonsense variant (p.Q275X) and a novel CREB3L3 nonsense variant (p.C296X) on a background of very strong polygenic susceptibility. Her clinical course worsened with development of eruptive xanthomata after oral administration of 2 mg estradiol twice daily for 2 weeks as part of a medical protocol for intrauterine embryo transfer following in vitro fertilization. Her triglyceride levels decreased to baseline and xanthomata resolved without treatment after discontinuation of hormonal therapy, which also resulted in termination of pregnancy. Before undergoing a second embryo transfer using her natural cycle and no exogenous hormones, the patient started combination therapy with eicosapentaenoic acid ethyl ester and gemfibrozil, leading to an ∼80% decrease in triglyceride levels. She continued treatment throughout pregnancy, which progressed to term with the delivery of healthy twins.

Multiple sub-epidermal calcified nodule mimicking eruptive xanthoma: a case report and review of the literature.

Sub-epidermal calcified nodule (SCN) is an uncommon form of idiopathic calcinosis. It usually occurs in children, particularly in the head and neck region, presenting as a solitary, painless, yellow-white nodule with papillomatous features. These lesions occur twice as common in males compared with females. The pathogenesis is uncertain, but the clinical and histological features of this lesion are distinctive. We report a case of 22-year-old man with multiple nodules bilaterally located on the dorsum of hands simulating eruptive xanthoma. Histopathological examination of one of the excised lesion confirmed the diagnosis showing epidermal and sub-epidermal deposition of calcium. This paper presents a review of the literature and adds a new case of SCN.

Eruptive Xanthoma in a Child with Type 2 Diabetes Mellitus / 대한피부과학회지

Diabetes mellitus (DM) can be complicated by a variety of cutaneous manifestations. Various xanthoma can appear, according to different subtypes of hyperlipopoteinemia, which is caused by only primary causes, like familial hyperlipoproteinemia, but also secondary causes that is DM, thyroid gland disorder, and diet. Dermatologic findings may even precede any clinical or biological evidence of DM. Thus, cognition of specific dermatologic findings, like xanthoma, can help identify DM, especially in children. We report a case of type IV hyperlipoproteinemia and eruptive xanthoma, associated with DM in a 12-year-old female. She was diagnosed of type IV hyperlipoproteinemia, through a lipid profile, electrophoresis and eruptive xanthoma from a skin biopsy. Although she showed overweight in BMI and had a mother with Type 2 DM, she was too little to have DM, and showed normal urine test. We examined thyroid function test and fasting blood sugar to rule out secondary hyperlipoproteinemia. Fasting blood sugar was increased enough to diagnose her with DM.

A Case of Eruptive Xanthoma Associated withType IV Hyperlipoproteinemia and Koebner Phenomenon / 대한피부과학회지

Type IV hyperlipoproteinemia is characterized by increased blood levels of the triglyceride form of the fat that makes up very low-density lipoproteins (VLDL). Eruptive xanthomas have been frequently observed in type I and V hyperlipoproteinemias but rarely observed in patients with type IV hyperlipoproteinemia. The Koebner phenomenon is the development of the isomorphic skin lesions in persons with certain skin diseases after an injury has occurred on skin of normal appearance. Although this response can develop in psoriasis, lichen planus, verruca etc., it has seldom been associated with eruptive xanthoma. We report a case of eruptive xanthoma with type IV hyperlipoproteinemia and Koebner phenomenon in a 28-year-old Korean male.

A Case of Type IV Hyperlipoproteinemia and Eruptive Xanthoma Associated with Diabetes Mellitus / 대한피부과학회지

We report a case of type IV hyperlipoproteinemia and eruptive xanthoma associated with diabetes mellitus in a 38-year-old male patient. He had multiple, erythematous, yellowish papules on the trunk, extremities and buttocks. Laboratory examinations showed an increase in serum blood glucose, cholesterol and triglyceride. Lipoprotein electrophoresis revealed increased pre-beta bands and a plasma standing test showed turbid plasma. Analysis of lipoprotein revealed an increase of triglyceride levels in the plasma. A skin biopsy from the lesion revealed a xanthoma. We diagnosed the patient as having type IV hyperlipoproteinemia with eruptive xanthoma. After 3 months of treatment with diet restrictions and fenofibrate, the serum level of triglyceride was reduced to a normal level, and the skin lesions disappeared.