DOCSLIB.ORG

Assessing Cardiovascular Risk in ATM Heterozygotes

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Assessing Cardiovascular Risk in ATM Heterozygotes ORIGINAL ARTICLE KOTCHETKOFF ECA ET AL. Assessing cardiovascular risk in ATM heterozygotes ELAINE CRISTINA DE ALMEIDA KOTCHETKOFF1 , FABÍOLA ISABEL SUANO DE SOUZA1, FERNANDO LUIZ AFFONSO FONSECA2, SONIA HIX3, SERGIO ARON AJZEN4, DAVID CARLOS SHIGUEOKA4, BEATRIZ TAVARES COSTA CARVALHO1*, ROSELI OSELKA SACCARDO SARNI1 1Pediatrics Department, Escola Paulista de Medicina – Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil 2Assistant Professor, Faculdade de Medicina do ABC (FMABC), Santo André, SP, Brazil; Adjunct Professor IV, Unifesp, Diadema, SP, Brazil 3Department of Morphology and Physiology, FMABC, Santo André, SP, Brazil 4Department of Diagnostic Imaging, EPM-Unifesp, São Paulo, SP, Brazil SUMMARY Objective: To evaluate the carotid intima-media complex (CIMC) thickness and lipid metabolism biomarkers associated with cardiovascular risk (CR) in parents of patients with ataxia-telangiectasia and verify an association with gender. Method: A cross-sectional and controlled study with 29 ATM heterozygotes and 14 healthy controls. Biochemical tests and CIMC thickness measurement were performed. Results: The mean CIMC measurement in heterozygous ATM was 0.72 ± 0.1 mm (minimum: 0.5 mm and maximum: 1.0 mm). Noticed high percentage of amounts above 75 percentile compared to the population referential (16 [76.2%]), without any significant statistical differences between the female and the male gender (11/15 [73.3%] vs. 5/6 [83.3%]; p=0.550). The comparison between heterozygous and controls, stratified by gender, showed that in heterozygous ATMs, women had higher concentrations of HDL-c compared to men, as well as higher values of Study conducted by Discipline of Allergy, Immunology and Rheumatology, hs-CRP in relation to the control women. In heterozygous ATMs, stratified by Pediatrics Department, Escola Paulista gender, the correlation between HDL-c and hs-CRP was inversely proportional de Medicina, Universidade Federal de and stronger among women, with a tendency to statistical significance. São Paulo (Unifesp), São Paulo, SP, Brazil Conclusion: Heterozygous ATMs did not differ from controls in relation to the Article received: 5/26/2017 biomarkers studied related to CR. However, most of them presented increased Accepted for publication: 8/6/2017 CIMC, independent predictor of death, risk for myocardial infarction and stroke, *Correspondence: compared to the referential for the same age group. This finding suggests CR in Address: Rua dos Otonis, 725, Vila Clementino the heterozygous ATM and shows to the need to monitor CIMC thickness and São Paulo, SP – Brasil nutritional orientations. Postal code: 04025-002 [email protected] Keywords: Ataxia Telangiectasia. Atherosclerosis. Carotid Intima-Media Thickness. http://dx.doi.org/10.1590/1806-9282.64.02.148 Insulin Resistance. Heterozygote. INTRODUCTION posed of 3,056 amino acids, belongs to the PIKK (phos- Ataxia-telangiectasia (A-T) is a rare autosomal recessive phatidylinositol 3-kinase-related kinases) superfamily,4 syndrome that affects 1:40,000 live births in the United and is involved in DNA damage-response regulation.2,5 States.1 The classic symptoms, which gave rise to the name The ATM protein follows several molecular events. Its for the disorder, are ataxia (loss of motor coordination – absence or failure induces the collapse of several mecha- onset in early childhood) and telangiectasias (venous nisms related to the development of disorders, including capillaries dilated in the corners of the eyes and skin, oc- cardiovascular (CV) diseases. These mechanisms are de- curring around 4-6 years of age).2 scribed in the literature by means of experimental studies6-14 Caused by mutations of the ATM gene (ataxia telan- and, more recently, by virtue of increased patient survival giectasia mutated),3,4 which is encoded on chromosome in studies with humans.15 The mechanisms involved in 11q22-23, the protein associated with this gene is com- CV risk associated with ATM failure entail increased c-jun 148 REV ASSOC MED BRAS 2018; 64(2):148-153 ASSESSING CARDIOVASCULAR RISK IN ATM HETEROZYGOTES N-terminal kinase (JNK, related to metabolic syndrome), physical activity was assessed by a short version of the insulin resistance, dyslipidemia, angiogenesis, myocyte International Physical Activity Questionnarie (IPAQ). apoptosis and oxidative stress.6,8-13,16 The individual CV risk was assessed based on the Fram- ATM heterozygotes, who carry a mutant allele to the ingham score.23 A-T locus, account for from 1.4 to 2% of the population.1,17 The anthropometric evaluation was based on weight, A systematic review and a recent meta-analysis showed that height, skin folds (tricipital, subscapular, bicipital, and first-degree relatives, parents and grandparents of A-T pa- supra-iliac skin folds), and circumferences (neck, abdom- tients have an increased risk of ischemic heart disease.18 inal, and brachial). Neck circumference (NC) measurements A retrospective controlled cohort study was conduct- were taken and classified according to Ben-Noun et al.24,25 ed over 28 years with grandparents of A-T patients, i.e. The waist-to-height ratio (WhR) was used as a marker of individuals having the mutation, with the purpose of risk for coronary disease.26 Food consumption was obtained describing mortality rates. A total of 405 grandparents with the aid of a 24-hour food recall (R24hs).27 (204 ATM heterozygotes, as assessed by genotyping, and The following biochemical markers were used: total 201 controls) were included. Compared to controls, ATM cholesterol and fractions, triglycerides, fasting glycemia, heterozygotes had a significantly higher risk of death (be- AST, ALT, GGT, us-CRP, IL-6, PON1, Apo A-I and Apo B. tween 20 and 79 years RR 1.9, 95CI 1.3-2.8, p<0.001). On The TC/HDL-c, LDL-c/HDL-c, and Apo B/Apo A-I ratios average, death occurred 7 to 8 years earlier among ATM were calculated.28,29 heterozygotes. The relative risk of death from cancer and A single examiner took all CIMC thickness measure- ischemic heart disease before age 80 was 2.6 (95CI 1.4-4.7, ments, and only from ATM heterozygotes. We used a p=0.002) and 2.0 (95CI 1-4, p=0.062), respectively. With Medison Accuvix V10 unit with a high-frequency linear respect to ischemic heart disease, death among ATM het- transducer (6-12 MHz) and adjusted its focal area to the erozygotes occurred 11 years earlier than in the control area of interest (posterior wall of the common carotid group (p=0.006), which was not observed for cancer.19 artery) and its gain so as to avoid artifacts inside the ves- Studies describing CV risk mechanisms in A-T carriers20 sel and yield a 4x magnification. The cutoff point we and ATM heterozygotes,8,12,13,15 conducted either in humans adopted for percentile classification was an adapted table or involving animal experimentation — as well as the scar- from the CAPS Study, by age group and gender.30 city of studies identifying such risk by biochemical and We then entered and consolidated the data in Excel® imaging techniques — highlight the need to expand research Office spreadsheets. For the analysis, we used the SPSS in this field. The aim of our study was to describe the ca- 24.0 (IBM®) statistical package. Categorical variables rotid intima-media complex (CIMC) thickness and lipid were presented as total numbers (%) and compared using metabolism biomarkers associated with CV risk and then the Chi-squared test or Fisher’s exact test. Continuous to check whether there is an association with gender. variables were tested for their normality. Parameters were presented as mean±standard deviation and non-paramet- METHOD ric as median (interquartile range). Because they are not A prospective, controlled cross-sectional study evaluated 29 parametric, triglycerides, interleukin-6 and Apo-B values fathers and mothers of patients clinically diagnosed with were submitted to the logarithmic transformation for A-T (herein referred to as ATM heterozygotes). The control analysis. For bivariate comparison, we used Student’s group consisted of 14 age/sex-matched healthy volunteers. t-test and ANOVA for two or more stations, respectively. The inclusion criteria for the parents were: having In order to evaluate the association between us-CRP and offspring diagnosed with A-T in accordance with the HDL-c, we used Pearson’s correlation. For multivariate PAGID-ESID criteria21,22 and consenting to participate in analysis involving BMI, us-CRP and gender, in turn, we the study. The inclusion criteria for the control group were: used logistic binary regression, enter method. We ad- consenting to participate in the study, being eutrophic opted a significance level of 5%. and a non-smoker. The exclusion criterion for both groups was not meeting the abovementioned inclusion criteria. RESULTS The study was approved by the Research Ethics Com- The general traits found in the ATM heterozygote and mittee of UNIFESP-EPM (No. 921407/2014), and all control groups can be seen in Table 1. We can observe participants signed a free informed consent form. that there was no difference between the groups in terms Demographic and clinical data were collected by of age (41.0±9.3 years versus 43.3±8.9 years, p=0.420), means of a standardized questionnaire. The level of gender and years of formal education (Table 1). REV ASSOC MED BRAS 2018; 64(2):148-153 149 KOTCHETKOFF ECA ET AL. No serious CV events, such as acute myocardial infarc- unsaturated fat % (2.3±0.4 versus 2.1±0.5, p=0.796) or tion or stroke in the family, were reported in either group. polyunsaturated fat % (2.0±0.3 versus 2.8±0.9, p=0.329). Other previous conditions preceding CVDs (dyslipidemia, Mean CIMC measure in the ATM heterozygote group obesity, HBP and diabetes) were cited by 16 (55%) and was 0.72±0.1 mm (minimum: 0.5 mm and maximum: eight (57.1%) participants in the ATM heterozygote and 1.0 mm).
Load more

Recommended publications
  • Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management From
    REVIEW ARTICLE Hereditary hemorrhagic telangiectasia: Ferrata Storti diagnosis and management from Foundation the hematologist’s perspective Athena Kritharis,1 Hanny Al-Samkari2 and David J Kuter2 1Division of Blood Disorders, Rutgers Cancer Institute of New Jersey, New Brunswick, NJ and 2Hematology Division, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA ABSTRACT Haematologica 2018 Volume 103(9):1433-1443 ereditary hemorrhagic telangiectasia (HHT), also known as Osler- Weber-Rendu syndrome, is an autosomal dominant disorder that Hcauses abnormal blood vessel formation. The diagnosis of hered- itary hemorrhagic telangiectasia is clinical, based on the Curaçao criteria. Genetic mutations that have been identified include ENG, ACVRL1/ALK1, and MADH4/SMAD4, among others. Patients with HHT may have telangiectasias and arteriovenous malformations in various organs and suffer from many complications including bleeding, anemia, iron deficiency, and high-output heart failure. Families with the same mutation exhibit considerable phenotypic variation. Optimal treatment is best delivered via a multidisciplinary approach with appropriate diag- nosis, screening and local and/or systemic management of lesions. Antiangiogenic agents such as bevacizumab have emerged as a promis- ing systemic therapy in reducing bleeding complications but are not cur- ative. Other pharmacological agents include iron supplementation, antifibrinolytics and hormonal treatment. This review discusses the biol- ogy of HHT, management issues that face
    [Show full text]
  • Generalized Essential Telangiectasia in a Patient with Graves
    Generalized Essential Telangiectasia in a Patient with Graves’ Disease: Should the Spectrum of Autoimmune Diseases Associated with Generalized Telangiectasia be Expanded? LCDR Ronald Buckley, MC, USN, Bethesda, Maryland COL Kathleen J. Smith, MC, USA, Bethesda, Maryland Henry G. Skelton, MD, Hurndon, Virginia Generalized essential telangiectasia (GET), as orig- rhagic telangiectasia, metastatic carcinoid syndrome, inally described, is not associated with any under- angiokeratoma corporis diffusum, ataxia-telangiecta- lying disease. Although patients with GET lack the sia, portal cirrhosis, and congenital dysplastic an- typical periungual telangiectases associated with giopathies.1 In addition, an entity known as general- autoimmune collagen vascular diseases, these pa- ized essential telangiectasia (GET) has been tients may have an underlying autoimmune described without associated disease.2 process. We present a patient with a history of The majority of the patients with GET are female, Graves’ disease and low-titer anti-nuclear antibod- with onset usually around the fourth decade of life.2 ies, who developed rapidly progressive general- In general, telangiectatic vessels first appear on the ized telangiectases. The gender and age of the ma- lower extremities, and over a few years to decades, jority of patients with GET fit well within the there is progressively more diffuse skin involvement.2-6 demographics of most autoimmune diseases. The Although lack of an association with systemic au- documented occurrence of an autoimmune disease toimmune disease was a criterion for this diagnosis in several of the limited number of patients previ- in the original report, our patient, as well as some ously diagnosed with GET provides additional evi- others who carry this diagnosis, have a documented dence that GET may be associated with an under- or probable underlying autoimmune disease.
    [Show full text]
  • Skin Manifestations of Systemic Disease
    THEME WEIRD SKIN STUFF Adriene Lee BSc(Med), MBBS(Hons), FACD, is visiting dermatologist, St Vincent's Hospital and Monash Medical Centre, and Lecturer, Department of General Practice, Monash University, Victoria. [email protected] Skin manifestations of systemic disease Dermatologic complaints are a common reason for Background presentation to a general practitioner. In such cases, one needs Dermatologic complaints are a common reason for presentation to determine if the complaint may be a manifestation of a more to a general practitioner. In some cases, one needs to determine serious underlying systemic disease. Disorders of the every if the complaint may be a manifestation of a more serious underlying systemic disease. organ system may cause skin symptoms and signs, some of which are due to treatment of these conditions. It is beyond the Objective scope of this review to cover all potential skin manifestations of This article aims to highlight common dermatologic systemic disease. This article highlights the more common, presentations where further assessment is needed to exclude classic and important manifestations in three different groups: an underlying systemic disease, to discuss classic cutaneous features of specific systemic diseases, and to outline rare • ‘When to look further’ – where dermatologic presentations cutaneous paraneoplastic syndromes. require further assessment to exclude underlying systemic disease, and guide appropriate management Discussion • ‘What to look for’ – where certain systemic diseases have Skin manifestations of systemic disease are wide, varied, classic cutaneous findings specific and nonspecific. Generalised pruritus and cutaneous • ‘What not to miss’ – where specific cutaneous signs might be vasculitis are more common cutaneous presentations where an underlying systemic disease may be present and will the initial presentation of an underlying malignancy.
    [Show full text]
  • Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: a Consecutive Series of 376 Patients During 15 Years
    Published March 24, 2016 as 10.3174/ajnr.A4762 ORIGINAL RESEARCH ADULT BRAIN Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years X W. Brinjikji, X V.N. Iyer, X V. Yamaki, X G. Lanzino, X H.J. Cloft, X K.R. Thielen, X K.L. Swanson, and X C.P. Wood ABSTRACT BACKGROUND AND PURPOSE: Hereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs. MATERIALS AND METHODS: Consecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imag- ing/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations. RESULTS: Three hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%).
    [Show full text]
  • Hypercoagulability in Hereditary Hemorrhagic Telangiectasia With
    Published online: 2019-09-26 Case Report Hypercoagulability in hereditary hemorrhagic telangiectasia with epilepsy Josef Finsterer, Ernst Sehnal1 Departments of Neurological and 1Cardiology and Intensive Care Medicine, General Hospital Rudolfstiftung, Vienna, Austria, Europe ABSTRACT Recent data indicate that in patients with hereditary hemorrhagic teleangiectasia (HHT), low iron levels due to inadequate replacement after hemorrhagic iron losses are associated with elevated factor‑VIII plasma levels and consecutively increased risk of venous thrombo‑embolism. Here, we report a patient with HHT, low iron levels, elevated factor‑VIII, and recurrent venous thrombo‑embolism. A 64‑year‑old multimorbid Serbian gipsy was diagnosed with HHT at age 62 years. He had a history of recurrent epistaxis, teleangiectasias on the lips, renal and pulmonary arterio‑venous malformations, and a family history positive for HHT. He had experienced recurrent venous thrombosis (mesenteric vein thrombosis, portal venous thrombosis, deep venous thrombosis), insufficiently treated with phenprocoumon during 16 months and gastro‑intestinal bleeding. Blood tests revealed sideropenia and elevated plasma levels of coagulation factor‑VIII. His history was positive for diabetes, arterial hypertension, hyperlipidemia, smoking, cerebral abscess, recurrent ischemic stroke, recurrent ileus, peripheral arterial occluding disease, polyneuropathy, mild renal insufficiency, and epilepsy. Following recent findings, hypercoagulability was attributed to the sideropenia‑induced elevation
    [Show full text]
  • Treatment of Telangiectasia and Reticular Veins of Lower Limb: Experience with Sclerotherapy and the Long-Pulsed 1064Nm Nd: YAG Laser in China
    Central Annals of Vascular Medicine & Research Research Article *Corresponding author Lu Xinwu, Department of Vascular Surgery, Shanghai Ninth People’s Hospital, Shanghai Jiao Tong University, Treatment of Telangiectasia China, Email: [email protected] Submitted: 16 February 2017 and Reticular Veins of Lower Accepted: 05 February 2017 Published: 31 March 2017 ISSN: 2378-9344 Limb: Experience with Copyright © 2017 Xinwu et al. Sclerotherapy and the Long- OPEN ACCESS Keywords Pulsed 1064nm Nd: YAG Laser • Reticular veins • Telangiectasis • Sclerotherapy in China • Laser treatment Zhao Haiguang1,2, Zhang Xing1, and Lu Xinwu1* 1Department of Vascular Surgery, Shanghai Jiao Tong University, China 2Laser Cosmetic Center, Shanghai Jiao Tong University, China Abstract Background and objective: The disease of reticular veins and telangiectasis of lower extremity are very common. Regular treatments of compression stockings and medicines offer limited relief and are not curative. This research is to study the efficacy, safety and patient satisfaction of the combination of sclerotherapy and the long-Pulsed 1064nm Nd: YAG laser in treatment of reticular veins and telangiectasis of lower extremity in China. Methods: From January 2015 to July 2016, excluding deep and superficial veins valve insufficiency of the lower extremity through duplex ultrasonography. Patients with simple reticular veins and telangiectasis of the lower extremity were treated with sclerotherapy combined with Nd: YAG 1064nm laser therapy. Results: Of the 136 patients: cured in 87 cases, significantly effective in 45 cases, effective in 4 cases, total effective rate is 100%. There were no severe complications in all cases. Conclusion: Sclerotherapy and Nd: YAG1064nm laser are for different stages of the treatment process and different caliber of blood vessels.
    [Show full text]
  • Dermoscopic Features of Spider Angioma in a Healthy Child
    Our Dermatology Online Letter to the Editor DDermoscopicermoscopic ffeatureseatures ooff sspiderpider aangiomangioma iinn a hhealthyealthy cchildhild Anissa Zaouak, Leila Bouhajja, Mariem Jrad, Amel Jebali, Houda Hammami, Samy Fenniche Dermatology Department, Habib Thameur Hospital, Tunis, Tunisia Corresponding author: Dr. Anissa Zaouak, E-mail: [email protected] Sir, We report a 7-year-old boy presented to our department for a newly appearing lesion of the cheek. He had no past medical history and there was not a history of trauma preceding the onset of the cutaneous lesion. Dermatologic examination revealed an erythematous small lesion with small vessels radiating from the center to the periphery located on the left cheek (Fig. 1). Dermoscopy revealed a vascular pattern with small telangiectasia and a stellate network (Fig. 2). The telangiectasias disappeared when pressure was applied with the dermoscope’s glass (Fig. 3). The diagnosis of spider angioma was retained. An Figure 1: Small spider angioma on the left cheek in a child. abdominal examination didn’t reveal hepatomegaly or splenomegaly. Laboratory tests excluded the diagnosis of hepatitis, hepatic deficiency or cirrhosis. The patient was scheduled for a treatment with pulsed dye laser for his small vascular lesion. Spider angiomas are lesions that appear as red spots, shiny, with numerous microvascular radiations which pale when pressure on a central spot is temporarily applied [1-2]. This condition was frequently associated with hepatic abnormalities [3]. Spider angiomas also called nevus araneus are lesions that appear as bright red small shiny lesions with numerous microvascular radiations which pale when pressure on a central spot is temporarily applied [1-3].
    [Show full text]
  • Idiopathic Peripheral Retinal Telangiectasia in Adults: a Case Series and Literature Review
    Journal of Clinical Medicine Article Idiopathic Peripheral Retinal Telangiectasia in Adults: A Case Series and Literature Review Maciej Gaw˛ecki Dobry Wzrok Ophthalmological Clinic, 80-822 Gdansk, Poland; [email protected]; Tel.: +48-501-788-654 Abstract: Idiopathic peripheral retinal telangiectasia (IPT), often termed as Coats disease, can present in a milder form with the onset in adulthood. The goal of this case series study and literature review was to describe and classify different presenting forms and treatment of this entity and to review contemporary methods of its management. Six cases of adult onset IPT were described with the following phenotypes based on fundus ophthalmoscopy, fluorescein angiography, and optical coherence tomography findings: IPT without exudates or foveal involvement, IPT with peripheral exudates without foveal involvement, IPT with peripheral exudates and cystoid macular edema, and IPT with peripheral and macular hard exudates. Treatments applied in this series included observation, laser photocoagulation, and anti-vascular endothelial growth factor (VEGF) treatment with variable outcomes depending upon the extent of IPT, the aggressiveness of laser treatment, and the stringency of follow-up. The accompanying literature review suggests that ablative therapies, especially laser photocoagulation, remain the most effective treatment option in adult-onset IPT, with anti-VEGF therapy serving as an adjuvant procedure. Close follow-up is necessary to achieve and maintain reasonable good visual and morphological results. Keywords: Coats disease; peripheral retinal telangiectasia; laser photocoagulation; anti-VEGF treatment Citation: Gaw˛ecki,M. Idiopathic Peripheral Retinal Telangiectasia in 1. Introduction Adults: A Case Series and Literature Review. J. Clin. Med. 2021, 10, 1767. Idiopathic peripheral retinal telangiectasia (IPT), usually referred to as Coats disease, https://doi.org/10.3390/jcm10081767 has been well-described in the medical literature since its discovery in 1908 [1].
    [Show full text]
  • Real-World Data from the Gemelli Hospital HHT Registry
    Journal of Clinical Medicine Article Antithrombotic Therapy in Hereditary Hemorrhagic Telangiectasia: Real-World Data from the Gemelli Hospital HHT Registry Eleonora Gaetani 1,2,*, Fabiana Agostini 1,2, Igor Giarretta 1,2 , Angelo Porfidia 1,3 , Luigi Di Martino 1,2, Antonio Gasbarrini 1,2, Roberto Pola 1,4 1, and on behalf of the Multidisciplinary Gemelli Hospital Group for HHT y 1 Multidisciplinary Gemelli Hospital Group for HHT, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168 Rome, Italy; [email protected] (F.A.); [email protected] (I.G.); angelo.porfi[email protected] (A.P.); [email protected] (L.D.M.); [email protected] (A.G.); [email protected] (R.P.) 2 Department of Translational Medicine and Surgery, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168 Rome, Italy 3 Division of Internal Medicine, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168 Rome, Italy 4 Department of Cardiovascular Sciences, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica del Sacro Cuore, 00168 Rome, Italy * Correspondence: [email protected]; Tel.: +39-06-30157075 Multidisciplinary Gemelli Hospital Group for HHT: Giulio C. Passali, Maria E. Riccioni, Annalisa Tortora, y Veronica Ojetti, Daniela Feliciani, Leonardo Stella, Clara De Simone, Luigi Corina, Alfredo Puca, Carmelo L. Sturiale, Laura Riccardi, Aldobrando Broccolini, Carmine Di StasiAndrea Contegiacomo, Annemilia Del Ciello, Pietro M. Ferraro, Emanuela Lucci-Cordisco, Giuseppe Zampino, Valentina Giorgio, Giuseppe Marrone, Gabriele Spoletini, Gabriella Locorotondo, Gaetano Lanza, Erica De Candia, Elisabetta Peppucci, Marianna Mazza, Giuseppe Marano, Maria T. Lombardi, Maria G.
    [Show full text]
  • Raynaud's Phenomenon: a Longterm Prospective Study
    Case-based Learning Exercise Raynaud’s Phenomenon submitted by RAF Clark Case #1 (with answers) July 20, 2001 36-year-old white female is referred to Dermatology for evaluation of a 5 year history of Raynaud’s phenomenon (painful pallor of the fingers with cold exposure followed by cyanosis, hands appear mottled or red on rewarming). The problem had been fairly stable but she discovered on a medical Web site that Raynaud’s phenomenon can be associated with scleroderma, a life threatening disorder. Upon careful questioning the patient admits to having mild difficulty swallowing. This is often manifest as a discomfort in the mid-chest and occurs most commonly after ingestion of a heavy food such as steak. She denies shortness of breath, diarrhea, or hypertension. Her weight has been stable for the past 5 years and she has not experienced undue fatigue. She takes no medication other than an occasional aspirin but does wear gloves often, even at night during the summer months. The patient appears well but is somewhat agitated. Mouth opens fully for inspection and a gag reflex can be easily elicited. Cutaneous exam reveals pallor of the fingers and toes with cyanosis of the nail beds. Nail folds have a moderate loss of capillaries with compensatory enlargement of capillary loops. The skin over the digits is supple. No matte telangiectasia nor hard cutaneous nodules are found on total body skin exam. A. What is the most likely diagnosis and why? Surveys have found that 4-15% of the general population has Raynaud’s phenomenon (1). In most cases this symptom of vasospasm in the digits (Raynaud’s disease) is mild and begins before the age of 25.
    [Show full text]
  • Duke-Elder Lecture Retinal Arteritis, Retinal Vasculitis and Autoimmune
    Eye (1987) 1,441-465 Duke-Elder Lecture Retinal Arteritis, Retinal Vasculitis and Autoimmune Retinal Vasculitis M. D. SANDERS London I would like to thank the President and directorship of Professor Arnold Sorsby. This Council for honouring me with the task of Unit was subsequently transferred to St delivering the 4th Duke-Elder Lecture, and Thomas' with the Royal Eye Hospital in 1973. enabling me to pay tribute to one of the most Staffed by physicians, neurologists and oph­ distinguished British Ophthalmologists of this thalmologists, the Unit has provided a base century. for itensive in-patient investigation of compli­ Born near Dundee in 1898, Sir Stewart cated medical and neuro-ophthalmic prob­ Duke-Elder graduated from St Andrew's lems. Secondly, he was instrumental in this University with a BSc and special distinction author obtaining the Alexander Piggott in physiology. After medical training in Dun­ Warner Memorial Fellowship to study at the dee and Edinburgh he graduated, and like University of California, San Francisco, in many of his compatriots took the high road 1967-1968 under Professor W. F. Hoyt. south to London, where he was fortunate in On joining the staff of the Medical Eye Unit gaining the close friendship of one of at St Thomas' Hospital, it became clear to me London's most illustrious scientific ophthal­ that 'Retinal Vasculitis' was a major cause of mologists, Sir Herbert Parsons. His career visual morbidity and occurred particularly in progressed after appointments at Moorfields young people. In America, 10 per cent of Eye Hospital and St George's Hospital, to patients with severe visual handicap were attain the highest accolades available in his noted to have inflammatory eye disease.l In own land, and his international reputation many cases retinal changes occurred in the similarly grew as he received honours abroad.
    [Show full text]
  • Cutaneous Venous Hypertension: from Spider Veins to Ulcers
    Cutaneous Venous Hypertension Ronald Bush, MD, FACS Water’s Edge Dermatology Stuart, Florida Disclosure • Minority shareholder in dermaka Skin Care Products, LLC Why You Are Here Today (Bush, 2018) CEAP • The CEAP classification consists of categories listed as: C0 to C6. • Except for categories, C0 & C2, the manifestations of venous disease are confined to the dermal layer • C2 is varicosities that are subdermal • There may be isolated skin changes associated with varicosities i.e. eczema CEAP 1 • CEAP 1 is simple venous telangiectasia (Spider Veins) • The causative factor is transmitted venous pressure with resultant vessel wall dilatation • Spider veins are located from 300 – 1000 microns below the squamous epithelium CEAP 2 • CEAP 2 is reserved for verification for veins that are subdermal • Only the valves are abnormal, not the vein itself CEAP 3 • CEAP 3 is manifested as edema in the dermal and subdermal tissue CEAP 4 • CEAP 4 refers to stasis changes in the lower leg or signs of chronic venous disease • Hemosiderin is deposited in the dermal tissue as the result of red cell extravasation Histology of Skin With Stasis Changes CEAP 5 • CEAP 5 classification if for patients with healed venous ulcer and skin sequalae, secondary to chronic inflammatory process CEAP 6 • This classification is reserved for patients with active ulceration Cutaneous Venous Hypertension • The manifestations of cutaneous venous hypertension range from: – Spider veins – Varicose veins – Stasis dermatitis – Atrophic blanche – Venous ulceration • Most patients
    [Show full text]