Auswirkungen der Amyloidose am Herzen – Krankhafte Ablagerungsprozesse durch Stoffwechseldefekte

Amyloidosen sind extrazelluläre Ablagerungen pathologischer unlöslicher, betafibrillärer Proteine, die am Herzen zur Ausbildung einer restriktiven Kardiomyopathie führen. Kein nicht-invasiver Test ist für die kardiale Amyloidose pathognomisch, aber die typische Kombination echokardiografischer Befunde (linksventrikuläre Hypertrophie etc.) mit einer dazu diskrepanten peripheren Niedervoltage im EKG ist hochverdächtig. Leitsymptome sind Belastungsdyspnoe und ein rapider Verlust der Leistungsfähigkeit. In Myokardproben wird die kardiale Amyloidose histologisch diagnostiziert und immunhistochemisch typisiert. Chemotherapien tolerieren viele Patienten mit AL-Amyloidose schlecht. Mehrere Plasmazellklone sind gegenüber einer hoch dosierten Chemotherapie resistent. Die Prognose von Patienten mit Amyloidose ist ungünstig und beträgt bei kardialer Amyloidose im Mittel sechs Monate, da die Erkrankung erst sehr spät (zu spät) diagnostiziert wird. Die Überlebenszeit der hereditären ATTR-Amyloidose beträgt bis zu 15 Jahre, die der AA-Amyloidose ist von der Grunderkrankung abhängig.

Cardiac amyloidosis describes a clinically significant involvement of the heart by amyloid deposition, which may or may not be associated with an involvement of other organs. No single noninvasive test abnormality is pathognomonic for cardiac amyloidosis, but the curious combination of a typical echocardigraphic appearance with left ventricular hypertrophy, normal-sized left ventricle, enlarged atria, regular systolic function, severely impaired diastolic function along with an unsuitable low voltage ECG is highly suggestive of this disease. The cardinal clinical symptoms are dyspnoea and a fast, unexplained rapid loss of exercise capacity mostly within six to nine months. Cardiac amyloidosis can be proven by myocardial biopsies taken during cardiac catheterization. The presence of amyloid in myocardial biopsies is confirmed histologically by characteristic birefringence after Congo Red staining and the mutant protein is identified by immunohistochemical typing. Chemotherapy is indicated in AL amyloidosis, and hence, early diagnosis is crucial because patients with advanced disease are usually too ill for an aggressive chemotherapy and stem cell transplantation. Their life expectancy is limited to three to six months.

Amyloidosis - cardiac amyloidosis - amyloid deposition - dyspnoea - myocardial biopsies

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