Pseudoxanthoma Elasticum Treatment & Management

Updated: Oct 20, 2017
  • Author: Neil Alan Fenske, MD; Chief Editor: Dirk M Elston, MD  more...
  • Print
Treatment

Approach Considerations

While the development of novel strategies is currently at the preclinical level, recommended therapies to possibly slow the progression of the disease include smoking cessation, moderate physical exercise, and an appropriate diet with supplemented magnesium, phosphate binders, and pyrophosphate analogs. [27, 45, 46]

Next:

Medical Care

Many of the pathologic changes associated with pseudoxanthoma elasticum (PXE) are irreversible, but prophylactic measures can be undertaken to minimize the disease course.

Cutaneous lesions

The redundant sagging folds of skin that present late in the course of PXE can be corrected by surgical excision if the patient desires, but delayed healing and scarring have been reported secondary to transepidermal extrusion of calcium. [47] Collagen and autologous fat injections may be options for the treatment of mental creases. [48]

Fractional carbon dioxide laser treatment has been used to improve cosmetic appearance, particularly improving the texture, volume, dispensability, and irregularity of skin lesions. [49]

Cardiovascular lesions

Diet and exercise are the main methods to minimize the extent of cardiovascular disease. Elevated serum lipid levels and hypertension aggravate the disease course and should initially be treated by lifestyle modifications, followed by drug therapy if necessary. Intermittent claudication is best managed by weight reduction and an exercise program to stimulate collateral blood vessel development. Pentoxifylline has been used but should be done so with extreme caution due to increased risk of hemorrhage.

Signs and symptoms of GI hemorrhage, such as melena or frank blood, must be closely monitored. Aspirin, antiplatelet agents, and nonsteroidal anti-inflammatory drugs (NSAIDs) should be avoided if possible. GI hemorrhage may be managed by hospitalization, iron supplements, blood transfusions, endoscopic treatment, or surgery with partial gastrectomy if necessary.

Patients are advised to stop tobacco use, as tobacco has been shown to aggravate the disease course.

Ocular lesions

Retinal hemorrhages are preceded by subretinal membrane formation, which can be detected by the use of an Amsler grid. Changes can be confirmed by intravenous fluorescein angiography, and prompt treatment can help minimize visual loss.

Intravitreal antivascular endothelia growth factor (VEGF) treatment, such as bevacizumab, appears promising in the management of choroidal neovascularization. [50, 51]

Photodynamic therapy and intravitreal triamcinolone may also be beneficial in treating ocular complications. [51]

Vitamins A, C, and E and zinc supplements may reduce the risk of hemorrhage.

A review article by Marconi et al reported that treatment options for choroidal neovascularization of retinal pigment epithelium found in PXE include laser photocoagulation, transpupillary thermotherapy and photodynamic therapy, macular translocation surgery, and antivascular endothelial growth factor (anti-VEGF) intravitreal injections. [52]

Previous
Next:

Consultations

All patients with pseudoxanthoma elasticum (PXE) should be monitored on a regular basis by an ophthalmologist.

GI hemorrhages should be referred to a gastroenterologist, and cardiovascular manifestations are best managed by a cardiologist.

If pulmonary, urinary tract, or cerebral involvement is present, appropriate referrals should be made.

Patients and their families should receive genetic counseling. Current evidence suggests that the inheritance pattern in PXE is autosomal recessive. Recurrence risks in sporadic cases are, therefore, generally low. The Medscape Genomic Medicine Resource Center may be of interest.

Previous
Next:

Diet

Excessive dietary calcium consumption should be avoided in childhood and adolescence because a correlation of severity of pseudoxanthoma elasticum (PXE) with high calcium intake has been suggested.

Previous
Next:

Activity

Patients should avoid heavy lifting, straining, and activities that may predispose them to head trauma, which increases the risk of retinal hemorrhage. Patients with pseudoxanthoma elasticum (PXE) should avoid strenuous weight lifting and contact sports.

Previous
Next:

Long-Term Monitoring

Regular fecal occult blood testing and CBC count should be performed every 6 months to 1 year to monitor for GI hemorrhaging.

An ophthalmologic examination should be performed on pseudoxanthoma elasticum (PXE) patients at least once a year to detect early retinopathy, angioid streaks, or retinal hemorrhage.

Regular physical examinations, with particular attention to the cardiovascular system, should be performed to detect mitral valve insufficiency, coronary artery disease, or peripheral vascular compromise.

Managing comorbid conditions, including diabetes, hyperlipidemia, and hypertension due to premature atherosclerosis and an increased risk of cardiovascular disease, is important.

Avoidance of contact sports, NSAIDs, aspirin, and anticoagulants, owing to risk of hemorrhage, and smoking cessation should also be stressed.

Previous