Eruptive Xanthoma

Total Page:16

File Type:pdf, Size:1020Kb

Eruptive Xanthoma THE CLINICAL PICTURE MAHMOUD ABDELGHANY, MD SAMUEL MASSOUD, MD Department of Medicine, Conemaugh Memorial Chairman, Department of Medicine, Medical Center, Johnstown, PA Conemaugh Memorial Medical Center, Johnstown, PA Eruptive xanthoma FIGURE 1. Small, reddish-yellow papules over the extensor surface of the right forearm and both knees at the time of presentation. n obese 50-year-old man with hypertension, • Albumin 4 g/dL (3.5–5.0) A hyperlipidemia, recently diagnosed diabetes, and • Creatinine 1 mg/dL (0.70–1.40) a history of grand mal seizures presented to the emer- • Glomerular fi ltration rate 79 mL/min/1.73 m2 (> 60) gency room complaining of skin rash for 1 week. He • Urinalysis showed no proteinuria. denied having fever, chills, myalgia, abdominal pain, Histologic analysis of a lesion-biopsy specimen visual changes, recent changes in medications, or con- showed dermal foamy macrophages and loose lipids, tact with anyone with similar symptoms. which confi rmed the suspicion of eruptive xanthoma. He was a smoker, with a history of 20 pack-years; The patient was started on strict glycemic and lipid he denied abusing alcohol and taking illicit drugs. control. Metformin and statin doses were increased He had no family history of diabetes, peripheral and insulin was added. Three months later, labora- vascular disease, or coronary artery disease. His medi- tory results showed total cholesterol 128 mg/dL, tri- cations included lisinopril, simvastatin, niacin, met- glycerides 164 mg/dL, fasting blood glucose 88 mg/dL, formin, and phenytoin. and hemoglobin A1c 5.5%. This was accompanied by On physical examination, the lesions were small, marked improvement of the skin lesions (FIGURE 2). reddish-yellow, nonpruritic tender papules covering the extensor surfaces of the knees, the forearms, the ■ CAUSES AND DIFFERENTIAL DIAGNOSIS abdomen, and the back (FIGURE 1). Laboratory test re- Eruptive xanthoma is a cutaneous disease most com- sults: monly arising over the extensor surfaces of the ex- • Total cholesterol 1,045 mg/dL (reference range 100–199) tremities and on the buttocks and shoulders, and it • Triglycerides 7,855 mg/dL (30–149) can be caused by high levels of serum triglycerides • Thyroid-stimulating hormone 0.52 mIU/L (0.4–5.5) and uncontrolled diabetes mellitus.1 Hypothyroid- • Fasting blood glucose 441 mg/dL (65–100) ism, end-stage renal disease, and nephrotic syndrome • Hemoglobin A1c 12.6% (4.0–6.0) can cause secondary hypertriglyceridemia,2 which can • Total protein 7.2 g/dL (6.0–8.4) cause eruptive xanthoma in severe cases. Patients with doi:10.3949/ccjm.82a.14081 eruptive xanthoma may also have ophthalmologic and CLEVELAND CLINIC JOURNAL OF MEDICINE VOLUME 82 • NUMBER 4 APRIL 2015 209 Downloaded from www.ccjm.org on October 2, 2021. For personal use only. All other uses require permission. ERUPTIVE XANTHOMAS FIGURE 2. Resolution of the lesions on the right forearm and the knees after several months of treatment. gastrointestinal involvement, such as lipemia deposits, and the deposition of hyaluronic acid retinalis (salmon-colored retina with creamy- on the edges.5 Xanthoma disseminatum con- white retinal vessels), abdominal pain, and sists of numerous, small, red-brown papules hepatosplenomegaly.3 that are evenly spread on the face, skin-folds, Other types of xanthoma associated with trunk, and proximal extremities.6 Juvenile dyslipidemia include tuberous, tendinous, xanthogranuloma occurs mostly in children and plane xanthoma. Tuberous xanthoma is a and is characterized by discrete orange-yel- fi rm, painless, deeper, red-yellow, larger nodu- low nodules, which commonly appear on the 4 lar lesion, and the size may vary. Tendinous scalp, face, and upper trunk. It is in most cases xanthoma is a slowly enlarging subcutaneous a solitary lesion, but multiple lesions may oc- nodule typically located near tendons or liga- cur.7 Lesions of generalized eruptive histiocy- ments in the hands, feet, and the Achilles ten- toma are fi rm, erythematous or brownish pap- Eruptive don. Plane xanthoma is a fl at papule or patch ules that appear in successive crops over the xanthoma that can occur anywhere on the body. face, trunk, and proximal surfaces of the limbs. The differential diagnosis includes dissem- most commonly inated granuloma annulare, non-Langerhans ■ TREATMENT arises over cell histiocytosis (xanthoma disseminatum, micronodular form of juvenile xanthogranu- Treatment of eruptive xanthoma involves di- extensor loma), and generalized eruptive histiocytoma. etary restriction, exercise, and drug therapy to surfaces of Eruptive xanthoma is differentiated from dis- control the hyperlipidemia and the diabetes.2 the extremities, seminated granuloma annulare by the abun- Early recognition and proper control of hyper- dance of perivascular histiocytes and xan- triglyceridemia can prevent sequelae such as and on the thomized histiocytes, the presence of lipid acute pancreatitis.3 ■ buttocks ■ REFERENCES and shoulders 1. Durrington P. Dyslipidaemia. Lancet 2003; 362:717–731. granuloma annulare. J Cutan Pathol 1986; 13:207–215. 2. Brunzell JD. Clinical practice. Hypertriglyceridemia. N Engl J 6. Rupec RA, Schaller M. Xanthoma disseminatum. Int J Der- Med 2007; 357:1009–1017. matol 2002; 41:911–913. 3. Leaf DA. Chylomicronemia and the chylomicronemia 7. Ferrari F, Masurel A, Olivier-Faivre L, Vabres P. Juvenile syndrome: a practical approach to management. Am J Med xanthogranuloma and nevus anemicus in the diagnosis of 2008; 121:10–12. neurofi bromatosis type 1. JAMA Dermatol 2014; 150:42–46. 4. Siddi GM, Pes GM, Errigo A, Corraduzza G, Ena P. Multiple tuberous xanthomas as the fi rst manifestation of autoso- ADDRESS: Mahmoud Abdelghany, MD, Department of Medi- mal recessive hypercholesterolemia. J Eur Acad Dermatol cine, Conemaugh Memorial Medical Center, 1086 Franklin Venereol 2006; 20:1376–1378. Street, E3 Building, Johnstown, PA 15905; 5. Cooper PH. Eruptive xanthoma: a microscopic simulant of e-mail: [email protected] 210 CLEVELAND CLINIC JOURNAL OF MEDICINE VOLUME 82 • NUMBER 4 APRIL 2015 Downloaded from www.ccjm.org on October 2, 2021. For personal use only. All other uses require permission..
Recommended publications
  • Evicore Pediatric PVD Imaging Guidelines
    CLINICAL GUIDELINES Pediatric Peripheral Vascular Disease (PVD) Imaging Guidelines Version 1.0 Effective January 1, 2021 eviCore healthcare Clinical Decision Support Tool Diagnostic Strategies: This tool addresses common symptoms and symptom complexes. Imaging requests for individuals with atypical symptoms or clinical presentations that are not specifically addressed will require physician review. Consultation with the referring physician, specialist and/or individual’s Primary Care Physician (PCP) may provide additional insight. CPT® (Current Procedural Terminology) is a registered trademark of the American Medical Association (AMA). CPT® five digit codes, nomenclature and other data are copyright 2020 American Medical Association. All Rights Reserved. No fee schedules, basic units, relative values or related listings are included in the CPT® book. AMA does not directly or indirectly practice medicine or dispense medical services. AMA assumes no liability for the data contained herein or not contained herein. © 2020 eviCore healthcare. All rights reserved. Pediatric PVD Imaging Guidelines V1.0 Pediatric Peripheral Vascular Disease (PVD) Imaging Guidelines Procedure Codes Associated with PVD Imaging 3 PEDPVD-1: General Guidelines 5 PEDPVD-2: Vascular Anomalies 10 PEDPVD-3: Vasculitis 15 PEDPVD-4: Disorders of the Aorta and Visceral Arteries 19 PEDPVD-5: Infantile Hemangiomas 25 ______________________________________________________________________________________________________ ©2020 eviCore healthcare. All Rights Reserved. Page 2 of
    [Show full text]
  • PNWD Talk 2016
    Best Cases OHSU Kelly Griffith-Bauer, MD Case 1 •Inpatient consult: Possible vasculitis •HPI: 51 y/o gentleman with h/o COPD, recent pneumonia with 3 month history of ulcers on the R foot, unintentional 30lb weight loss •Epistaxis and tongue ulcer Physical Exam Physical Exam Histology •Neutrophilic Vasculitis involving small to medium sized vessels, as seen on step level sections through the entire tissue segment. Case 1 •Elevated ESR, +c-ANCA, cavitary lung mass Diagnosis: Wegener’s Granulomatosis • AKA granulomatosis with polyangiitis (GPA) • Granulomatous inflammation usually involving the upper and lower respiratory tract and focal necrotizing glomerulitis. • Small and medium-sized (“mixed”) vasculitis • Predominant ANCA type/antigen – C/PR3 90%, P/MPO 10% • Findings include palpable purpura, friable gums, Palisaded neutrophilic granulomatous dermatitis (PNGD) (umbilicated papules on extensors, face), subcutaneous nodules, PG-like ulcers, digital necrosis Case 2: • Presented to the OHSU dermatology clinic with an ~6 month history of painful “bumps” involving bilateral palms. • HPI: 47 y/o Native American female with a hx of Primary Biliary Cirrhosis (undergoing liver transplant work up), DM2, HTN. Physical Exam Differential for lesions of the palms/soles: • Calcinosis cutis • Corns and/or callous • Verruca Vulgaris (common and plantar warts) • Xanthoma Striatum Palmare/Plane Xanthomas • Arsenic keratoses • Gouty tophi • Acrokeratosis paraneoplastic of Bazex • Acquired keratodermas (ex, Aquatic syringeal palmar keratoderma) Histology •Nodular and interstitial granulomatous dermatitis with foam cells, consonant with xanthoma. Histology 40x CD68 Diagnosis: Xanthoma Striatum Palmare • Xanthoma striatum palmare = plane xanthomas involving the palmar creases. • Causes of xanthoma striatum palmare include: • Familial dysbetalipoproteinemia (type III). • Primary biliary cirrhosis and other cholestatic liver diseases ( Incr lipoprotein X).
    [Show full text]
  • Case Report: Eruptive Xanthoma in a 14-Year-Old Boy Ryan M
    Case Report: Eruptive Xanthoma in a 14-year-old boy Ryan M. Proctor, DO; Warren A. Peterson, DO; Michael W. Peterson, DO: Michael R. Proctor, DO; J. Ryan Jackson, DO; Andrew C. Duncanson OMS4; Allen E. Stout, DC. Dr. R. Proctor, Dr. W. Peterson, Dr. M. Peterson are from Aspen Dermatology Residency, Spanish Fork, UT; Dr. M. Proctor is from Arizona Desert Dermatology, Kingman, AZ; Dr. Jackson is from Sampson Regional Medical Center, Clinton, NC; OMS4 Duncanson is from Des Moines University, Des Moines, IA; DC Stout is from Stout Wellness Center, Fort Mohave, AZ. INTRODUCTION CLINICAL PHOTOS DISCUSSION Xanthomas are benign collections of lipid deposits that manifest as yellow to Eruptive xanthomas (EX) are often an indicator of severe red firm papules, nodules, or plaques. This yellow/red coloration is due to the hypertriglyceridemia and can indicate undiagnosed or Figure 1 Figure 2 carotene in lipids. Xanthomas are composed of lipid filled macrophages decompensated diabetes mellitus (DM).1 The triglyceride levels in known as “foam cells”. Xanthomas can be due to genetic disorders of lipid these patients can be >3000-4000 mg/dl (normal <150 mg/dl).2 metabolism, such as autosomal dominant hypocholesteremia or familial lipoprotein lipase(LPL) deficiency.1,2 They can also be caused by severe It is important to quickly diagnose and manage these patients due hypertriglyceridemia and have been associated with undiagnosed diabetic to the possible sequela of diabetes mellitus and hyperlipidemia. dyslipidemia, hypothyroidism, cholestasis, nephrotic
    [Show full text]
  • Atypical Fibroxanthoma - Histological Diagnosis, Immunohistochemical Markers and Concepts of Therapy
    ANTICANCER RESEARCH 35: 5717-5736 (2015) Review Atypical Fibroxanthoma - Histological Diagnosis, Immunohistochemical Markers and Concepts of Therapy MICHAEL KOCH1, ANNE J. FREUNDL2, ABBAS AGAIMY3, FRANKLIN KIESEWETTER2, JULIAN KÜNZEL4, IWONA CICHA1* and CHRISTOPH ALEXIOU1* 1Department of Otorhinolaryngology, Head and Neck Surgery, University Hospital Erlangen, Erlangen, Germany; 2Dermatology Clinic, 3Institute of Pathology, and 4ENT Department, University Hospital Mainz, Mainz, Germany Abstract. Background: Atypical fibroxanthoma (AFX) is an in 1962 (2). The name 'atypical fibroxanthoma' reflects the uncommon, rapidly growing cutaneous neoplasm of uncertain tumor composition, containing mainly xanthomatous-looking histogenesis. Thus far, there are no guidelines for diagnosis and cells and a varying proportion of fibrocytoid cells with therapy of this tumor. Patients and Methods: We included 18 variable, but usually marked cellular atypia (3). patients with 21 AFX, and 2,912 patients with a total of 2,939 According to previous reports, AFX chiefly occurs in the AFX cited in the literature between 1962 and 2014. Results: In sun-exposed head-and-neck area, especially in elderly males our cohort, excision with safety margin was performed in 100% (3). There are two disease peaks described: one within the 5th of primary tumors. Local recurrences were observed in 25% of to 7th decade of life and another one between the 7th and 8th primary tumors and parotid metastases in 5%. Ten-year disease- decade. The former disease peak is associated with lower specific survival was 100%. The literature research yielded 280 tumor frequency (21.8%) and tumors that do not necessarily relevant publications. Over 90% of the reported cases were manifest on skin areas exposed to sunlight (4).
    [Show full text]
  • Genetic Testing for Familial Hypercholesterolemia AHS – M2137
    Corporate Medical Policy Genetic Testing for Familial Hypercholesterolemia AHS – M2137 File Name: genetic_testing_for_familial_hypercholesterolemia Origination: 01/01/2019 Last CAP Review: 07/2021 Next CAP Review: 07/2022 Last Review: 07/2021 Description of Procedure or Service Definitions Familial hypercholesterolemia (FH) is a genetic condition that results in premature atherosclerotic cardiovascular disease due to lifelong exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels (Sturm et al., 2018). FH encompasses multiple clinical phenotypes associated with distinct molecular etiologies. The most common is an autosomal dominant disorder caused by mutations in one of three genes, low-density lipoprotein receptor (LDLR), apolipoprotein B-100 (APOB), and proprotein convertase subtilisin-like kexin type 9 (PCSK9) (Ahmad et al., 2016; Goldberg et al., 2011). Rare autosomal recessive disease results from mutation in low-density lipoprotein receptor adaptor protein (LDLRAP) (Garcia et al., 2001). Related Policies Cardiovascular Disease Risk Assessment AHS – G2050 ***Note: This Medical Policy is complex and technical. For questions concerning the technical language and/or specific clinical indications for its use, please consult your physician. Policy BCBSNC will provide coverage for genetic testing for familial hypercholesterolemia when it is determined the medical criteria or reimbursement guidelines below are met. Benefits Application This medical policy relates only to the services or supplies described herein. Please refer to the Member's Benefit Booklet for availability of benefits. Member's benefits may vary according to benefit design; therefore member benefit language should be reviewed before applying the terms of this medical policy. When Genetic Testing for Familial Hypercholesterolemia is covered 1. Genetic testing to establish a molecular diagnosis of Familial Hypercholesterolemia is considered medically necessary when BOTH of the following criteria are met: A.
    [Show full text]
  • Unilateral Multiple Tuberous Xanthomas Mimicking Multiple Lipomatosis in Type Iia Hypercholesterolemia- a Case Report with Review
    Jebmh.com Case Report Unilateral Multiple Tuberous Xanthomas Mimicking Multiple Lipomatosis in Type IIa Hypercholesterolemia- A Case Report with Review Madhuri K.1, Yugank Anand2, Vamseedhar Annam3, Prakash C. J.4, Shreya D. Prabhu5, Harshitha K. S.6 1Postgraduate Student, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. 2Postgraduate Student, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. 3Professor, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. 4Professor, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. 5Postgraduate Student, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. 6Postgradute Student, Department of Pathology, Rajarajeswari Medical College and Hospital, Bangalore, Karnataka. INTRODUCTION The term Xanthoma was derived from a Greek word “Xanthos” meaning yellow Corresponding Author: and was generally used to describe lipid deposits in the subcutaneous plane.1 They Dr. Vamseedhar Annam, do not represent a particular disease, but are cutaneous markers for dyslipidaemia Professor, or may even arise without any underlying metabolic defect.2 Tuberous xanthomas Department of Pathology, present as yellow or reddish nodules located mainly over the extensor surface of Rajarajeswari Medical College and the extremities and buttocks.1 They may be confused with lipomas. Early diagnosis Hospital, Bangalore- 560074, Karnataka. and treatment may help to prevent complications such as coronary artery disease, E-mail: [email protected] 3 myocardial infarction and pancreatitis. We here report a case of unilateral multiple tuberous xanthomas in a young lady with elevated Low density lipoprotein levels DOI: 10.18410/jebmh/2020/183 consistent with familial hypercholesterolemia Type IIa. Financial or Other Competing Interests: None.
    [Show full text]
  • Apoa5genetic Variants Are Markers for Classic Hyperlipoproteinemia
    CLINICAL RESEARCH CLINICAL RESEARCH www.nature.com/clinicalpractice/cardio APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia 1 1 1 2 2 1 1 Jian Wang , Matthew R Ban , Brooke A Kennedy , Sonia Anand , Salim Yusuf , Murray W Huff , Rebecca L Pollex and Robert A Hegele1* SUMMARY INTRODUCTION Hypertriglyceridemia is a common biochemical Background Several known candidate gene variants are useful markers for diagnosing hyperlipoproteinemia. In an attempt to identify phenotype that is observed in up to 5% of adults. other useful variants, we evaluated the association of two common A plasma triglyceride concentration above APOA5 single-nucleotide polymorphisms across the range of classic 1.7 mmol/l is a defining component of the meta­ 1 hyperlipoproteinemia phenotypes. bolic syndrome and is associated with several comorbidities, including increased risk of cardio­ Methods We assessed plasma lipoprotein profiles and APOA5 S19W and vascular disease2 and pancreatitis.3,4 Factors, –1131T>C genotypes in 678 adults from a single tertiary referral lipid such as an imbalance between caloric intake and clinic and in 373 normolipidemic controls matched for age and sex, all of expenditure, excessive alcohol intake, diabetes, European ancestry. and use of certain medications, are associated Results We observed significant stepwise relationships between APOA5 with hypertriglyceridemia; however, genetic minor allele carrier frequencies and plasma triglyceride quartiles. The factors are also important.5,6 odds ratios for hyperlipoproteinemia types 2B, 3, 4 and 5 in APOA5 S19W Complex traits, such as plasma triglyceride carriers were 3.11 (95% CI 1.63−5.95), 4.76 (2.25−10.1), 2.89 (1.17−7.18) levels, usually do not follow Mendelian patterns of and 6.16 (3.66−10.3), respectively.
    [Show full text]
  • Lipodystrophy Due to Adipose Tissue Specific Insulin Receptor
    Page 1 of 50 Diabetes Lipodystrophy Due to Adipose Tissue Specific Insulin Receptor Knockout Results in Progressive NAFLD Samir Softic1,2,#, Jeremie Boucher1,3,#, Marie H. Solheim1,4, Shiho Fujisaka1, Max-Felix Haering1, Erica P. Homan1, Jonathon Winnay1, Antonio R. Perez-Atayde5, and C. Ronald Kahn1. 1 Section on Integrative Physiology and Metabolism, Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA 2 Division of Gastroenterology, Hepatology and Nutrition, Boston Children’s Hospital, Boston, MA 3 Cardiovascular and Metabolic Diseases iMed, AstraZeneca R&D, 431 83 Mölndal, Sweden (current address) 4 KG Jebsen Center for Diabetes Research, Department of Clinical Science, University of Bergen, Bergen, Norway 5 Department of Pathology, Boston Children’s Hospital, and Harvard Medical School, Boston, MA # These authors contributed equally to this work. Corresponding author: C. Ronald Kahn, MD Joslin Diabetes Center One Joslin Place Boston, MA 02215 Phone: (617)732-2635 Fax:(617)732-2487 E-mail: [email protected] Keywords: Insulin receptors, IGF-1 receptors, lipodystrophy, diabetes, dyslipidemia, fatty liver, liver tumor, NAFLD, NASH. Running title: Lipodystrophic mice develop progressive NAFLD 1 Diabetes Publish Ahead of Print, published online May 10, 2016 Diabetes Page 2 of 50 SUMMARY Ectopic lipid accumulation in the liver is an almost universal feature of human and rodent models of generalized lipodystrophy and also is a common feature of type 2 diabetes, obesity and metabolic syndrome. Here we explore the progression of fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the insulin receptor (F-IRKO) or both IR and insulin-like growth factor-1 receptor (F- IR/IGF1RKO).
    [Show full text]
  • Fundamentals of Dermatology Describing Rashes and Lesions
    Dermatology for the Non-Dermatologist May 30 – June 3, 2018 - 1 - Fundamentals of Dermatology Describing Rashes and Lesions History remains ESSENTIAL to establish diagnosis – duration, treatments, prior history of skin conditions, drug use, systemic illness, etc., etc. Historical characteristics of lesions and rashes are also key elements of the description. Painful vs. painless? Pruritic? Burning sensation? Key descriptive elements – 1- definition and morphology of the lesion, 2- location and the extent of the disease. DEFINITIONS: Atrophy: Thinning of the epidermis and/or dermis causing a shiny appearance or fine wrinkling and/or depression of the skin (common causes: steroids, sudden weight gain, “stretch marks”) Bulla: Circumscribed superficial collection of fluid below or within the epidermis > 5mm (if <5mm vesicle), may be formed by the coalescence of vesicles (blister) Burrow: A linear, “threadlike” elevation of the skin, typically a few millimeters long. (scabies) Comedo: A plugged sebaceous follicle, such as closed (whitehead) & open comedones (blackhead) in acne Crust: Dried residue of serum, blood or pus (scab) Cyst: A circumscribed, usually slightly compressible, round, walled lesion, below the epidermis, may be filled with fluid or semi-solid material (sebaceous cyst, cystic acne) Dermatitis: nonspecific term for inflammation of the skin (many possible causes); may be a specific condition, e.g. atopic dermatitis Eczema: a generic term for acute or chronic inflammatory conditions of the skin. Typically appears erythematous,
    [Show full text]
  • 'Sitosterolemia—10 Years Observation in Two Sisters'
    Zurich Open Repository and Archive University of Zurich Main Library Strickhofstrasse 39 CH-8057 Zurich www.zora.uzh.ch Year: 2019 Sitosterolemia—10 years observation in two sisters Veit, Lara ; Allegri Machado, Gabriella ; Bürer, Céline ; Speer, Oliver ; Häberle, Johannes Abstract: Familial hypercholesterolemia due to heterozygous low‐density lipoprotein‐receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis during the work‐up of patients with dyslipi- demias. Here we report on two sisters with the rare, autosomal recessive condition, sitosterolemia. This disease is caused by mutations in a defective adenosine triphosphate‐binding cassette sterol excretion transporter, leading to highly elevated plant sterol concentrations in tissues and to a wide range of symp- toms. After a delayed diagnosis, treatment with a diet low in plant lipids plus ezetimibe to block the absorption of sterols corrected most of the clinical and biochemical signs of the disease. We followed the two patients for over 10 years and report their initial presentation and long‐term response to treatment. DOI: https://doi.org/10.1002/jmd2.12038 Posted at the Zurich Open Repository and Archive, University of Zurich ZORA URL: https://doi.org/10.5167/uzh-182906 Journal Article Accepted Version Originally published at: Veit, Lara; Allegri Machado, Gabriella; Bürer, Céline; Speer, Oliver; Häberle, Johannes (2019). Sitosterolemia— 10 years observation in
    [Show full text]
  • The Effect of Omega-3 Fatty Acids on Hypertriglyceridemia: a Review
    Review Article ISSN: 2574 -1241 DOI: 10.26717/BJSTR.2020.26.004382 The Effect of Omega-3 Fatty Acids on Hypertriglyceridemia: A Review Alaa Abousetta, Ibrahim Abousetta, Theresa Dobler, Lia Ebrahimi, Vassillis Frangoullis, Stephanos Christodoulides and Ioannis Patrikios* School of Medicine, European University Cyprus, Cyprus *Corresponding author: Ioannis Patrikios, School of Medicine, European University Cyprus, Cyprus ARTICLE INFO Abstract Received: March 06, 2020 Hypertriglyceridemia is a common problem in adults in the developed world. It is associated with increased levels of triglycerides within the blood, which subsequently Published: March 17, 2020 promote the development of other diseases such as cardiovascular disease and pancreatitis. Triglycerides are mostly consumed through the diet and act as a source of energy in between meals. However, the levels of triglycerides increase proportionally Citation: Alaa A, Ibrahim A, Theresa D, Lia with the number of calories consumed. This only leads to a problem if the total daily E, Ioannis P, et al., The Effect of Omega-3 energy expenditure is exceeded. Additionally, the type of macronutrients taken in Fatty Acids on Hypertriglyceridemia: A Re- view. Biomed J Sci & Tech Res 26(4)-2020. for instance, high carbohydrate intake has been associated with an increased plasma BJSTR. MS.ID.004382. triglyceridethrough the level.diet has If thea direct levels influence of the triglycerideson having an inincreased the blood level rise of abovetriglycerides, 150 mg/ as Abbreviations: FHTG: Familial hypertri- dL, it is considered as hypertriglyceridemia. Increasing numbers of triglycerides can glyceridemia; FCH: Familial Combined Hy- have multiple underlying causes, which can be divided into primary and secondary perlipidemia, systemic lupus erythemato- causes.
    [Show full text]
  • Pathophysiology of Adipocyte Defects and Dyslipidemia in HIV Lipodystrophy: New Evidence from Metabolic and Molecular Studies
    American Journal of Infectious Diseases 2 (3): 167-172, 2006 ISSN 1553-6203 © 2006 Science Publications Pathophysiology of Adipocyte Defects and Dyslipidemia in HIV Lipodystrophy: New Evidence from Metabolic and Molecular Studies 1,6Ashok Balasubramanyam, 1,6Rajagopal V. Sekhar, 2,3Farook Jahoor 4Henry J. Pownall and 5Dorothy Lewis 1Translational Metabolism Unit, Division of Diabetes, Endocrinology and Metabolism, 2Department of Pediatrics, 3Children’s Nutrition Research Center 4Section of Atherosclerosis and Lipoprotein Metabolism, 5Department of Immunology Baylor College of Medicine; 6Endocrine Service, Ben Taub General Hospital, Houston, Texas Abstract: Despite a burgeoning mass of descriptive information regarding the epidemiology, clinical features, body composition changes, hormonal alterations and dyslipidemic patterns in patients with HIV lipodystrophy syndrome (HLS), the specific biochemical pathways that are dysregulated in the condition and the molecular mechanisms that lead to their dysfunction, remain relatively unexplored. In this paper, we review studies that detail the metabolic basis of the dyslipidemia - specifically, the hypertriglyceridemia - that is the serologic hallmark of HLS and present new data relevant to mechanisms of dyslipidemia in the postprandial state. We also describe preliminary experiments showing that in addition to the well-known effects of highly-active antiretroviral drugs, the functional disruption of adipocytes and preadipocytes by factors intrinsic to HIV-infected immunocytes may play a role in the pathogenesis of HLS. Key words: Triglycerides, cholesterol, lipoprotein lipase, lipolysis, lymphocyte INTRODUCTION Metabolic basis of HLS - studies in the fasting and fed state: Whole body kinetic studies have Characteristics of dyslipidemia and its relationship demonstrated defects in specific lipid metabolic [19-21] to lipodystrophy: A characteristic dyslipidemic pattern pathways in HLS patients in both the fasting and observed in the majority of patients with HLS is fed (25) states.
    [Show full text]