Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman

Göral, Vedat

doi:10.3748/wjg.v13.i28.3899

Cited by 6 publications

(5 citation statements)

References 16 publications

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“…Around 15% of PXE patients will experience hemorrhage of the gastrointestinal or urinary tract (especially the stomach), compared with around 0.1% in the general population [16, 25, 44]. …”

Section: Clinical Descriptionmentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

137

147

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Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of the skin, eyes and blood vessels. The clinical prevalence of PXE has been estimated at between 1 per 100,000 and 1 per 25,000, with slight female predominance. The first clinical sign of PXE is almost always small yellow papules on the nape and sides of the neck and in flexural areas. The papules coalesce, and the skin becomes loose and wrinkled. The mid-dermal elastic fibers are short, fragmented, clumped and calcified. Dystrophic calcification of Bruch’s membrane, revealed by angioid streaks, may trigger choroidal neovascularization and, ultimately, loss of central vision and blindness in late-stage disease. Lesions in small and medium-sized artery walls may result in intermittent claudication and peripheral artery disease. Cardiac complications (myocardial infarction, angina pectoris) are thought to be relatively rare but merit thorough investigation. Ischemic strokes have been reported. PXE is a metabolic disease in which circulating levels of an anti-mineralization factor are low. There is good evidence to suggest that the factor is inorganic pyrophosphate (PPi), and that the circulating low levels of PPi and decreased PPi/Pi ratio result from the lack of ATP release by hepatocytes harboring the mutant ABCC6 protein. However, the substrate(s) bound, transported or modulated by the ABCC6 protein remain unknown. More than 300 sequence variants of the ABCC6 gene have been identified. There is no cure for PXE; the main symptomatic treatments are vascular endothelial growth factor inhibitor therapy (for ophthalmic manifestations), lifestyle, lipid-lowering and dietary measures (for reducing vascular risk factors), and vascular surgery (for severe cardiovascular manifestations). Future treatment options may include gene therapy/editing and pharmacologic chaperone therapy.

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“…Around 15% of PXE patients will experience hemorrhage of the gastrointestinal or urinary tract (especially the stomach), compared with around 0.1% in the general population [16, 25, 44]. …”

Section: Clinical Descriptionmentioning

confidence: 99%

Pseudoxanthoma elasticum

Germain

2017

Orphanet J Rare Dis

137

147

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“…The clinical manifestations of the vascular involvement include loss of peripheral pulses, intermittent claudication, renovascular hypertension, acute upper gastrointestinal hemorrhage, intestinal angina, coronary artery disease presenting with angina pectoris and less frequently myocardial infarction [13–15]. Cerebrovascular disease presents as transient ischemic attacks, “ministrokes”, and multi-infarct dementia [16].…”

Section: Clinical Featuresmentioning

confidence: 99%

Pseudoxanthoma elasticum: diagnostic features, classification and treatment options

Uitto¹,

Jiang²,

Váradi

et al. 2014

Expert Opinion on Orphan Drugs

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Introduction Pseudoxanthoma elasticum (PXE), a multisystem orphan disease, clinically affects the skin, the eyes, and the cardiovascular system with considerable morbidity and mortality. The clinical manifestations reflect the underlying pathology consisting of ectopic mineralization of peripheral connective tissues. Areas Covered The diagnostic criteria of PXE include characteristic clinical findings, together with histopathology of accumulation of pleiomorphic elastic structures in the dermis with progressive mineralization, and the presence of mutations in the ABCC6 gene. PXE-like cutaneous changes can also be encountered in other ectopic mineralization disorders, including generalized arterial calcification of infancy (GACI) caused by mutations in the ENPP1 gene. In some cases, overlapping clinical features of PXE/GACI, associated with mutations either in ABCC6 or ENPP1, have been noted. PXE demonstrates considerable inter- and intrafamilial heterogeneity, and consequently, accurate diagnosis is required for appropriate classification with prognostic implications. There is no effective and specific treatment for the systemic manifestations of PXE, but effective therapies to counteract the ocular complications are in current clinical use. Expert Opinion A number of observations in the murine model, the Abcc6−/− mouse, have indicated that the mineral composition of diet, particularly the magnesium content, can influence the severity of the mineralization phenotype. These observations suggest that appropriate dietary interventions, coupled with lifestyle modifications, including smoking cessation, might alleviate the symptoms and improve the quality of life of individuals affected with this, currently intractable, orphan disease.

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“…A fenti elváltozások klinikailag perifériás érbetegség, koszorúérbetegség, főleg agyi kisérbetegség talaján kialakult ischaemiás stroke és gastrointestinalis vérzés formájában nyilvánulnak meg [17,[32][33][34]. Emellett bal kamrai diastolés diszfunkció korai kialakulását is leírták [35].…”

Section: Cardiovascularis Szövődményekunclassified

“…A leggyakrabban gyomor eredetű gastrointestinalis vérzések a fokozottan fragilis, kalcifikált submucosus erek sérülésének következtében alakulnak ki [34,35]. A vérzések sokszor előzetes jelek nélkül lépnek fel, súlyosságtól függően transzfúziót, vagy akár sebészi beavatkozást tehetnek szükségessé.…”

Section: Cardiovascularis Manifesztációk Diagnosztikájaunclassified

Pseudoxanthoma elasticumban szenvedő betegek multidiszciplináris ellátása

Farkas

Kiss

Szabó

et al. 2022

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Összefoglaló. A pseudoxanthoma elasticum (PXE, OMIM # 264800) egy autoszomális recesszív módon öröklődő multiszisztémás érintettséggel járó kórkép, melynek háttérében az ABCC6 gén mutációi állnak. A tünetek kialakulásának oka az ektópiás mineralizáció. Kalcium-só kristályok rakódnak le elsősorban a bőrben, a szem Bruch-membránjában és az erek endotheliumában, így a bőrelváltozások mellett a látás csökkenése és cardiovascularis eltérések is jelentkezhetnek. A klinikai tünetek változó súlyosságúak lehetnek, heterogén megjelenésűek. A betegek fenotípusának azonosítása, valamint gondozása multidiszciplináris feladat, bőrgyógyász, szemész, kardiológus és klinikai genetikus együttműködésén alapul. Célunk, hogy bemutassuk a betegségben előforduló tüneteket, melyek ismerete megkönnyíti a kórkép felismerését, illetve hogy felhívjuk a figyelmet a korai diagnózis fontosságára és ismertessük a korszerű diagnosztikai módszereket. A súlyos szisztémás tünetek kialakulása miatt rendkívüli jelentőséggel bír a társszakmák együttműködése, hogy a korai diagnózis által időben megfelelő gondozásban és terápiában részesülhessenek a betegek. Orv Hetil. 2022; 163(18): 702–711. Summary. Pseudoxanthoma elasticum (PXE, OMIM # 264800) is an autosomal recessive, multisystemic disorder, associated with mutations of the ABCC6 gene. Ectopic mineralization is in the background of the clinical manifestations of the disease. Calcium-salt crystals are deposited primarily in the skin, in the Bruch membrane of the eyes, and in the vascular endothelium. Thus, in addition to the skin lesions, visual impairment and cardiovascular involvement also occur. Clinical symptoms show varying severity and display heterogeneous appearance. The identification of the phenotype and care of the patients require a multidisciplinary perspective based on the collaboration of a dermatologist, ophthalmologist, cardiologist, and clinical geneticist. The aim of our work is to describe the development of symptoms of the disease, in order to facilitate the diagnosis. In addition, we aim to draw attention to the importance of early diagnosis of pseudoxanthoma elasticum, and to present modern diagnostic methods. Considering the development of severe systemic complications, the early diagnosis with the collaboration between related specialists is crucial to provide optimal clinical care and management of the patients. Orv Hetil. 2022; 163(18): 702–711.

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Pseudoxantoma elasticum, as a repetitive upper gastrointestinal hemorrhage cause in a pregnant woman

Cited by 6 publications

References 16 publications

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum: diagnostic features, classification and treatment options

Pseudoxanthoma elasticumban szenvedő betegek multidiszciplináris ellátása

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