Vascular Effects of Pseudoxanthoma Elasticum
Main Article Content
Keywords
Pseudoxanthoma elasticum, Vascular, peripheral vascular disease, carotid rete mirabile, ABCC6
Abstract
Background: Pseudoxanthoma elasticum (PXE) is a rare hereditary disease caused by mutations in the ABCC6 gene, characterized by ectopic calcification of connective tissue throughout the body. Vascular conditions associated with PXE have been well-documented in the literature, but to our knowledge, analysis of the myriad of PXE case reports with associated vascular diseases in addition to larger cohort studies, has not been undertaken.
Objective: To review existing literature reporting peripheral vascular disease (PVD), cardiovascular disease (CVD), cerebrovascular disease (CeVD), hypertension, and carotid rete mirabile (CRM) in PXE patients as of June 2021.
Methods: A search of the PubMed database using the key words “pseudoxanthoma elasticum” and “vascular” was performed.
Results: A total of 345 cases of PVD, 97 cases of CVD, and 123 case of CeVD were reported. Additionally, 88 cases of hypertension and 5 cases of CRM were reported.
Conclusions: PXE patients are at risk of developing serious vascular conditions, particularly peripheral vascular disease. This condition also appears to have some connection to carotid rete mirabile, which is extremely rare in humans. Further research should be conducted to analyze the connection between PXE and CRM in order to better understand and treat both conditions.
References
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6. Boutouyrie P, Germain DP, Tropeano A, et al. Compressibility of the carotid artery in patients with pseudoxanthoma elasticum. Hypertension. 2001;38(5):1181-1184.
7. Germain DP, Boutouyrie P, Laloux B, Laurent S. Arterial remodeling and stiffness in patients with pseudoxanthoma elasticum. Arterioscler Thromb Vasc Biol. May 1 2003;23(5):836-841.
8. Campens L, Vanakker OM, Trachet B, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. Nov 2013;33(11):2646-2652.
9. Gutierrez-Cardo A, Lillo E, Murcia-Casas B, et al. Skin and Arterial Wall Deposits of 18F-NaF and Severity of Disease in Patients with Pseudoxanthoma Elasticum. J Clin Med. May 8 2020;9(5).
10. Hammami H, Badri T, Benmously R, et al. Pseudoxanthoma elasticum: a study of 22 cases. Rev Med Liege. 2009;64(12):629.
11. Iwanaga A, Okubo Y, Yozaki M, et al. Analysis of clinical symptoms and ABCC6 mutations in 76 Japanese patients with pseudoxanthoma elasticum. J Dermatol. Jun 2017;44(6):644-650.
12. Kauw F, Kranenburg G, Kappelle LJ, et al. Cerebral disease in a nationwide Dutch pseudoxanthoma elasticum cohort with a systematic review of the literature. J Neurol Sci. Feb 15 2017;373:167-172.
13. Leftheriotis G, Kauffenstein G, Hamel JF, et al. The contribution of arterial calcification to peripheral arterial disease in pseudoxanthoma elasticum. PLoS One. 2014;9(5):e96003.
14. Legrand A, Cornez L, Samkari W, et al. Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum. Genet Med. Aug 2017;19(8):909-917.
15. Nollet L, Campens L, De Zaeytijd J, et al. Clinical and subclinical findings in heterozygous ABCC6 carriers: results from a Belgian cohort and clinical practice guidelines. J Med Genet. Apr 5 2021.
16. Omarjee L, Fortrat JO, Larralde A, et al. Internal Carotid Artery Hypoplasia: A New Clinical Feature in Pseudoxanthoma Elasticum. J Stroke. Jan 2019;21(1):108-111.
17. Omarjee L, Mention PJ, Janin A, et al. Assessment of Inflammation and Calcification in Pseudoxanthoma Elasticum Arteries and Skin with 18F-FluroDeoxyGlucose and 18F-Sodium Fluoride Positron Emission Tomography/Computed Tomography Imaging: The GOCAPXE Trial. J Clin Med. Oct 27 2020;9(11).
18. Passon SG, Kullmar V, Blatzheim AK, et al. Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism? Intractable Rare Dis Res. Feb 2018;7(1):25-31.
19. Pingel S, Pausewang KS, Passon SG, et al. Increased vascular occlusion in patients with pseudoxanthoma elasticum. Vasa-European Journal of Vascular Medicine. 2017;46(1):47-52.
20. Utani A, Tanioka M, Yamamoto Y, et al. Relationship between the distribution of pseudoxanthoma elasticum skin and mucous membrane lesions and cardiovascular involvement. J Dermatol. Feb 2010;37(2):130-136.
21. Vanakker OM, Leroy BP, Coucke P, et al. Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart. Hum Mutat. Jan 2008;29(1):205.
22. Aissaoui R, Derbel F, Jallouli A, et al. [Pseudoxanthoma elasticum, 5 case reports]. Presse Med. Oct 18 2003;32(34):1595-1598.
23. Ammi M, Kranenburg G, Omarjee L, Martin L, Spiering W, Lefthériotis G. Abnormally high failure rate for femoral angioplasty in patients with pseudoxanthoma elasticum. J Vasc Surg Cases. Dec 2015;1(4):276-278.
24. Araki Y, Yokoyama T, Sagawa N, et al. Pseudoxanthoma elasticum diagnosed 25 years after the onset of cardiovascular disease. Intern Med. Nov 2001;40(11):1117-1120.
25. Araki Y, Imai S, Saitoh A, Ito T, Shimizu K, Yamada H. [A case of carotid rete mirabile associated with pseudoxanthoma elasticum: a case report]. No To Shinkei. May 1986;38(5):495-500.
26. Bardsley JL, Koehler PR. Pseudoxanthoma elasticum: angiographic manifestations in abdominal vessels. Radiology. Sep 1969;93(3):559-562.
27. Barrie L, Mazereeuw-Hautier J, Garat H, Bonafe JL. [Early pseudoxanthoma elasticum with severe cardiovascular involvement]. Ann Dermatol Venereol. Mar 2004;131(3):275-278.
28. Bete JM, Banas JS, Jr., Moran J, Pinn V, Levine HJ. Coronary artery disease in an 18 year old with pseudoxanthoma elasticum: successful surgical therapy. Am J Cardiol. Oct 6 1975;36(4):515-520.
29. Bock A, Schwegler G. Intracerebral haemorrhage as first manifestation of pseudoxanthoma elasticum. Clin Neurol Neurosurg. Mar 2008;110(3):262-264.
30. Bruno G, Ritelli M, Di Pietro A, et al. Clinical and Genetic Heterogeneity in a Large Family with Pseudoxanthoma Elasticum: MTHFR and SERPINE1 Variants as Possible Disease Modifiers in Developing Ischemic Stroke. J Stroke Cerebrovasc Dis. Apr 1 2021;30(6):105744.
31. Cailleux N, Hachulla E, Perez-Cousin M, Labalette P, Lecomte-Houcke M. [Pseudoxanthoma elasticum: a rare cause of leg artery diseases in young adults]. J Mal Vasc. Mar 1997;22(1):51-55.
32. Carter DJ, Woodward DA, Vince FP. Arterial surgery in pseudoxanthoma elasticum. Postgrad Med J. May 1976;52(607):291-292.
33. Chalk JB, Patterson MC, Pender MP. An intracranial arteriovenous malformation and palatal myoclonus related to pseudoxanthoma elasticum. Aust N Z J Med. Apr 1989;19(2):141-143.
34. Dalloz MA, Debs R, Bensa C, Alamowitch S. [White matter lesions leading to the diagnosis of pseudoxanthoma elasticum]. Rev Neurol (Paris). Oct 2010;166(10):844-848.
35. Del Zotto E, Ritelli M, Pezzini A, et al. Clinical, neuroradiological and molecular features of a patient affected by pseudoxhantoma elasticum associated to carotid rete mirabile: case report. Clin Neurol Neurosurg. Jul 2012;114(6):758-761.
36. Devriese M, Legrand A, Courtois M, Jeunemaitre X, Albuisson J. Pseudoxanthoma elasticum with prominent arterial calcifications evoking CD73 deficiency. Vasc. Med. 2019;24(5):461-464.
37. Dibi A, Mouane N, El Fahime E, Dafiri R, Bentahila A. Calcifications vasculaires dans le pseudoxanthome élastique chez l’enfant. JMV. 2017;42(6):333-337.
38. Dymock RB. Pseudoxanthoma elasticum: report of a case with reno-vascular hypertension. Aust. J. Derm. 1979;20(82).
39. Ekim M, Tümer N, Atmaca L, et al. Pseudoxanthoma elasticum: a rare cause of hypertension in children. Pediatr Nephrol. Apr 1998;12(3):183-185.
40. Elhatimi A, Elbakkal A, Iguermia S, Meziane M, Mikou O, Mernissi FZ. Yellow papules: the iceberg of systemic elastorrhexis. Pan Afr Med J. 2013;14:106.
41. Fasshauer K, Reimers CD, Gnau HJ, Strempel I, Rossberg C. Neurological complications of Grönblad-Strandberg syndrome. J Neurol. 1984;231(5):250-252.
42. Galle G, Galle K, Huk W, Taghavy A. [Stenoses of the cerebral arteries in pseudoxanthoma elasticum (author's transl)]. Arch Psychiatr Nervenkr (1970). 1981;231(1):61-70.
43. García Acuña JM, Vázquez Caamaño M, González Cid A, González-Juanatey JR, López Lago AM, Gil De La Peña M. [Coronary ischemia caused by pseudoxanthoma elasticum and myocardial revascularization with double arterial graft]. Rev Esp Cardiol. Jul 2001;54(7):908-911.
44. Gillgren P, Malmstedt J. Pseudoxanthoma Elasticum and Isolated Iliac Artery Occlusion. Eur J Vasc Endovasc Surg. Sep 2020;60(3):409.
45. Heno P, Fourcade L, Duc HN, et al. [Aorto-coronary dysplasia and pseudoxanthoma elastica]. Arch Mal Coeur Vaiss. Apr 1998;91(4):415-418.
46. Jackson A, Loh CL. Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology. Nov 1980;4(6):607-611.
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Hubbard, E., & Lebwohl, M. (2021). Vascular Effects of Pseudoxanthoma Elasticum. SKIN The Journal of Cutaneous Medicine, 5(5), 453–461. https://doi.org/10.25251/skin.5.5.2
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