Pseudoxanthoma elasticum – also a microvascular disease
Abstract
Summary:Background: Pseudoxanthoma elasticum (PXE) is a heritable recessive disease characterized by calcification and fragmentation of soft connective tissue. Besides progressive loss of vision, alternations of the skin, and early-onset atherosclerosis different reports have suggested a microvascular manifestation of PXE and restrictive lung disease. Aim of this study was to elaborate a specific pattern of capillary alterations in PXE as well as to contemplate a possible connection to restrictive lung disease. Patients and methods: 53 consecutive patients with PXE and 26 controls were studied. All patients underwent nailfold capillaroscopy, body plethysmography, capillary blood gas analysis, and venous puncture to assess titer of autoantibodies. Results: PXE was associated with highly pathological alterations of capillaries compared to control. Atypical capillaries, such as ramifications and bushy forms, as well as dilatations varied at highest significance (p < .001). This effect was mirrored by perivascular edema, density and tortuous capillaries. Titer of anti-nuclear autoantibodies were not elevated in patients with PXE. Further analysis revealed negative correlation between vital capacity and presence of atypical capillaries. Conclusions: This study firstly describes the pattern of nailfold capillaries in PXE. Capillaries are highly pathological and consist of ramifications and bushy forms as well as dilatations. Frequently, tortuous capillaries, pericapillary edema and reduced denseness of capillary loops occur. Frequency of atypical capillaries is negatively correlated with vital capacity which can be interpreted as further lead on restrictive lung disease.
References
1 . Pseudoxanthoma elasticum. Int J Dermatol. 1988;27:98–100.
2 . Pseudoxanthoma elasticum: Molecular genetics and putative pathomechanisms. J Invest Dermatol. 2010;130:661–70.
3 . Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Mol Genet. 1997;6:1823–8.
4 . Pseudoxanthoma elasticum. Orphanet J Rare Dis. 2017;12:85.
5 . An update on the ocular phenotype in patients with pseudoxanthoma elasticum. Front Genet. 2013;4:14.
6 . Frequency, phenotypic characteristics and progression of atrophy associated with a diseased Bruch’s membrane in pseudoxanthoma elasticum. Invest Ophthalmol Vis Sci. 2016;57:3323–30.
7 . Pseudoxanthoma elasticum: Diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs. 2014;2:567–77.
8 Increased vascular occlusion in patients with pseudoxanthoma elasticum. Vasa. 2017;46:47–52.
9 . Prevalence and severity of arterial calcifications in pseudoxanthoma elasticum (PXE) compared to hospital controls. Novel insights into the vascular phenotype of PXE. Atherosclerosis. 2017;256:7–14.
10 Pseudoxanthoma elasticum – also a lung disease? The respiratory affection of patients with pseudoxanthoma elasticum. PLoS One. 2016;11:e0162337.
11 . Pseudoxanthoma elasticum with abnormal nailfold microcirculatory findings. Kaohsiung J Med Sci. 2002;18:309–13.
12 . Microvascular involvement in pseudoxanthoma elasticum. Capillaroscopic findings. Presse Med. 2004;33:518–21.
13 . A case of pseudoxanthoma elasticum with microvascular alterations: possible explanations and causes. Orthop Muscular Syst. 2017;06.
14 . How to perform and interpret capillaroscopy. Best Pract Res Clin Rheumatol. 2013;27:237–48.
15 Reliability of the qualitative and semiquantitative nailfold videocapillaroscopy assessment in a systemic sclerosis cohort: A two-centre study. Ann Rheum Dis. 2010;69:1092–6.
16 . Capillaroscopy. Best Pract Res Clin Rheumatol. 2005;19:437–52.
17 . Prevalence and evolution of scleroderma pattern at nailfold videocapillaroscopy in systemic sclerosis patients: Clinical and prognostic implications. Microvasc Res. 2015;99:92–5.
18 . Pulmonary calcification and elastic tissue damage in pseudoxanthoma elasticum. Histopathology. 1980;4:607–11.
19 . Pulmonary opacities in pseudoxanthoma elasticum: Report of two cases. Br J Radiol. 1981;54:65–7.
20 . Pulmonary radiographic changes in pseudoxanthoma elasf icum. Australas Radiol. 1986;30:310–2.
21 Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastructural Pathology. 2009;27:375–84.
22 The amount of calcifications in pseudoxanthoma elasticum patients is underestimated in computed tomographic imaging; a post-mortem correlation of histological and computed tomographic findings in two cases. Insights Imaging. 2018;9:493–8.
23 . Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol. 2009;129:348–54.
24 . Pseudoxanthoma elasticum and rheumatoid arthritis. Arch Intern Med. 1987;147:206–7.
25 Rheumatoid arthritis in a patient with pseudoxanthoma elasticum. Intern Med. 1993;32:508–9.
26 . Coexisting pseudo-xanthoma elasticum and rheumatoid arthritis. Three cases and review of the literature. Joint Bone Spine. 2001;68:513–6.
27 . Coexisting pseudoxanthoma elasticum and lupus erythematosus: Report of two cases. Int J Dermatol. 2007;46:622–4.
28 . A case report of pseudoxanthoma elasticum and systemic lupus erythematosus: An uncommon association? Reumatol Clin. 2017;13:183–4.
29 Anti-nuclear autoantibodies in the general German population: Prevalence and lack of association with selected cardiovascular and metabolic disorders-findings of a multicenter population-based study. Arthritis Res Ther. 2017;19:127.
30 Prevalence and sociodemographic correlates of antinuclear antibodies in the United States. Arthritis Rheum. 2012;64:2319–27.