Intermittent Claudication in a 28-Year-Old Man With Pseudoxanthoma Elasticum
2008; Lippincott Williams & Wilkins; Volume: 118; Issue: 1 Linguagem: Inglês
10.1161/circulationaha.107.760355
ISSN1524-4539
AutoresOlga von Beckerath, Jochen Gaa, C. Winkler von Mohrenfels, Nicolas von Beckerath,
Tópico(s)Amyloidosis: Diagnosis, Treatment, Outcomes
ResumoHomeCirculationVol. 118, No. 1Intermittent Claudication in a 28-Year-Old Man With Pseudoxanthoma Elasticum Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissions ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toFree AccessReview ArticlePDF/EPUBIntermittent Claudication in a 28-Year-Old Man With Pseudoxanthoma Elasticum Olga von Beckerath, Jochen Gaa, Christoph Winkler von Mohrenfels and Nicolas von Beckerath Olga von BeckerathOlga von Beckerath From 1. Medizinische Klinik (O.v.B., N.v.B.), Department of Radiology (J.G.), and Department of Ophtalmology (C.W.v.M.), Klinikum rechts der Isar, Technische Universität München, Munich, Germany. , Jochen GaaJochen Gaa From 1. Medizinische Klinik (O.v.B., N.v.B.), Department of Radiology (J.G.), and Department of Ophtalmology (C.W.v.M.), Klinikum rechts der Isar, Technische Universität München, Munich, Germany. , Christoph Winkler von MohrenfelsChristoph Winkler von Mohrenfels From 1. Medizinische Klinik (O.v.B., N.v.B.), Department of Radiology (J.G.), and Department of Ophtalmology (C.W.v.M.), Klinikum rechts der Isar, Technische Universität München, Munich, Germany. and Nicolas von BeckerathNicolas von Beckerath From 1. Medizinische Klinik (O.v.B., N.v.B.), Department of Radiology (J.G.), and Department of Ophtalmology (C.W.v.M.), Klinikum rechts der Isar, Technische Universität München, Munich, Germany. Originally published1 Jul 2008https://doi.org/10.1161/CIRCULATIONAHA.107.760355Circulation. 2008;118:102–104A 28-year-old man was transferred to our outpatient clinic for further vascular studies and evaluation. Two weeks earlier, a standard x-ray had been performed after minor injury of the left knee during a soccer game (Figure 1). A bone fracture was excluded, but the x-ray revealed severe calcification of the left popliteal artery. Download figureDownload PowerPointFigure 1. Conventional x-ray (lateral view) of the left knee showing severe calcification of the popliteal artery (black arrows).When we tried to ascertain the presence of claudication, the patient reported burning pain in both calves during ongoing and strenuous physical exercise, such as rapid walking for more than 1000 meters, with immediate relief at rest. He first noticed these symptoms when he was about 16 years old, and since then the symptoms have remained constant. He denied the presence of chest pain at rest or on exertion and reported no abdominal symptoms. He started to smoke few cigarettes a day 4 years before presentation. He denied the presence of arterial hypertension, hyperlipidemia, and diabetes. Because of acne-like skin lesion on the neck, a skin biopsy had been performed 14 years earlier. His parents, 4 siblings, wife, and 2 children (2 and 4 years of age) were to his knowledge devoid of any major disease. Physical examination revealed nonpalpable popliteal, posterior tibial, and dorsalis pedis pulses on both sides. Radial and femoral pulses were palpable. No trophic skin changes of the lower limbs were observed. The presence of acne-like yellowish skin lesions on the neck was confirmed (Figure 2). Download figureDownload PowerPointFigure 2. Digital photograph of the neck of the patient. The yellowish papules 1 to 5 mm in diameter coalesce to form plaques with typical cobblestone appearance. Similar skin changes were observed in the axillae.The ankle-brachial indexes at rest were markedly reduced, at 0.65 on the right and 0.46 on the left. Duplex ultrasound with color imaging showed normal femoral arteries with triphasic Doppler signals and occlusion of both popliteal arteries. Subsequently, magnetic resonance angiography was performed and it showed severe peripheral artery disease with occlusion of both superficial femoral and popliteal arteries, as well as infrapopliteal occlusive disease (Figure 3). The patient was asked to bring all available medical records to the next visit, which was scheduled to discuss the results of magnetic resonance angiography. The records showed that the histology of the skin biopsy performed 14 years earlier indicated the presence of pseudoxanthoma elasticum (PXE) in this patient. Download figureDownload PowerPointFigure 3. Contrast-enhanced magnetic resonance angiography of lower limb vessels using a fast 3D-gradient echo sequence and phased array surface coils. Three blocks were scanned. The study was performed on a 1.5-Tesla whole body magnetic resonance imaging scanner (Magnetom Avanto, Siemens Medical Systems, Erlangen, Germany). Angiographic images are displayed in reconstructed format by maximum intensity projections. Magnetic resonance angiography revealed severe peripheral artery disease with occlusion of both superficial femoral and popliteal arteries, as well as infrapopliteal occlusive disease.Additional studies were performed. Ophthalmologic examination revealed angioid streaks and peau d'orange on funduscopy (Figure 4). The patient's vision was not impaired. Resting ECG and exercise electrocardiography were normal. A transthoracic echocardiography showed normal function of both ventricles and the heart valves, as well as normal size of all heart chambers. We recommended that the patient stop smoking and playing soccer and that he avoid other contact sports with the possibility of head trauma. A follow-up visit was scheduled for 12 months later. Download figureDownload PowerPointFigure 4. Funduscopy showing angioid streaks and peau d'orange. Angioid streaks are cracks in Bruch's membrane. In PXE, Bruch's membrane becomes calcified and brittle. Cracks in the membrane usually occur on the eye muscle/optic nerve head track forcing line. Angioid streaks are irregular lines radiating outward from the optic disc, grossly resembling vessels, hence their name. Peau d'orange signifies diffuse mottling of the fundus and is less specific for PXE.PXE is a systemic disease with recessive inheritance of connective tissue primarily affecting the skin, retina, and cardiovascular system.1 It is characterized histologically by elastic fiber mineralization and fragmentation and clinically by a high heterogeneity in age of onset and extent and severity of organ system involvement. The disease is strongly associated with the occurrence of mutations in the ABCC6 (ATP binding cassette family C member 6) gene, which encodes MRP6 (multidrug resistance-associated protein 6).1–3 PXE is an important and possibly underdiagnosed cause of premature cardiovascular disease.1 Early identification of the disease and increased surveillance for its sequelae might improve the quality and length of life of those affected.3DisclosuresNone.FootnotesReprint requests to PD Dr Nicolas von Beckerath, 1. Medizinische Klinik, Klinikum rechts der Isar, Ismaninger Str. 22, 81675 München, Germany. E-mail [email protected]References1 Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005; 42: 881–892.CrossrefMedlineGoogle Scholar2 Bergen AA, Plomp AS, Schuurman EJ, Terry S, Breuning M, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PT. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000; 25: 228–231.CrossrefMedlineGoogle Scholar3 Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007; 44: 621–628.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Maleki M (2022) Evaluation of Patient With Cardiovascular Problem Practical Cardiology, 10.1016/B978-0-323-80915-3.00015-6, (7-16), . Weinberg M and Weinberg I (2017) Non-atherosclerotic Peripheral Artery Disease Peripheral Artery Disease, 10.1002/9781118775998.ch5, (91-109) Bell D and Weerakkody Y (2015) Pseudoxanthoma elasticum Radiopaedia.org, 10.53347/rID-34097 Weinberg I and Weinberg M (2015) Non-Atherosclerotic Arterial Disorders of the Lower Extremities PanVascular Medicine, 10.1007/978-3-642-37078-6_113, (3007-3030), . Leftheriotis G, Kauffenstein G, Hamel J, Abraham P, Le Saux O, Willoteaux S, Henrion D, Martin L and Eller P (2014) The Contribution of Arterial Calcification to Peripheral Arterial Disease in Pseudoxanthoma Elasticum, PLoS ONE, 10.1371/journal.pone.0096003, 9:5, (e96003) Weinberg I and Weinberg M (2014) Non-atherosclerotic Arterial Disorders of the Lower Extremities PanVascular Medicine, 10.1007/978-3-642-37393-0_113-1, (1-27), . Gupta R and O'Gara P (2013) The History and Physical Examination of the Cardiovascular System Essential Cardiology, 10.1007/978-1-4614-6705-2_6, (79-93), . Siskos D, Giannakakis S, Makris S, Pirgakis K, Psyllas A and Maltezos C (2012) Case Report of a Patient With Iliac Occlusive Disease Due to Pseudoxantoma Elasticum and Review of the Bibliography, Annals of Vascular Surgery, 10.1016/j.avsg.2011.07.013, 26:2, (278.e11-278.e14), Online publication date: 1-Feb-2012. Fang J and O'Gara P (2012) The History and Physical Examination Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 10.1016/B978-1-4377-0398-6.00012-3, (107-125), . Lefthériotis G, Abraham P, Le Corre Y, Le Saux O, Henrion D, Ducluzeau P, Prunier F and Martin L (2011) Relationship between ankle brachial index and arterial remodeling in pseudoxanthoma elasticum, Journal of Vascular Surgery, 10.1016/j.jvs.2011.04.041, 54:5, (1390-1394), Online publication date: 1-Nov-2011. Laitinen I and Knuuti J (2009) Imaging of vulnerable plaque: Potential breakthrough or pipe dream?, Current Cardiovascular Imaging Reports, 10.1007/s12410-009-0021-x, 2:3, (167-175), Online publication date: 1-Jun-2009. July 1, 2008Vol 118, Issue 1 Advertisement Article InformationMetrics https://doi.org/10.1161/CIRCULATIONAHA.107.760355PMID: 18591453 Originally publishedJuly 1, 2008 PDF download Advertisement SubjectsAtherosclerosisComputerized Tomography (CT)Genetics
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