Kardiovaskuläre Manifestationen des Pseudoxanthoma Elasticum (Grönblad-Strandberg-Syndrom)

Zusammenfassung

Das Pseudoxanthoma elasticum (PXE) stellt ein seltenes hereditäres Krankheitsbild dar, das durch eine generalisierte Degeneration der elastischen Fasern gekennzeichnet ist. Neben den typischen Haut- und Augenveränderungen findet sich in 25% der Fälle ein Befall des peripheren arteriellen Systems. Neben der Beschreibung eines typischen Falles eines familiären PXE werden die verschiedenen vaskulär bedingten Manifestationen im Bereich des peripheren arteriellen Systems, der zerebralen und abdominellen Arterien, der Koronararterien sowie die Veränderungen im Bereich des Herzens aufgezeigt. Diagnostische und therapeutische Möglichkeiten werden diskutiert.

Summary

Pseudoxanthoma Elasticum (PXE) is a rare inherited disease with generalized degeneration of the elastic fibers. Typical changes occur in the skin and the eyes, but 25% of all cases present an involvement of the peripheral arteries. A typical case of familiar PXE is presented. Changes can occur in nearly all arteries, but involvement of the arteries of the leg, arm, foot and hand are most common. Usually, the symptoms are the same as in the peripheral arterial occlusive disease, but 70% of the patients are less than 35 years old. Angiography shows calcifications of the arteries with multiple stenoses and occlusions but also a very well developed system of collateral arteries. Involvement of abdominal arteries causes recurrent hemorrhage. Changes in the coronary artery system cause myocardial infarction and sudden death in children and young adults. Changes of the mitral, aortic and tricuspid valve and the endocard have been described. As the evolution of the disease is very slow and the system of collateral arteries is usually well developed, operation (i.e. femoro-popliteal bypass, aorto-coronary bypass) is in most cases not necessary.

Key words

Pseudoxanthoma elasticum - inherited disease - changes in the eyes - peripheral arteries