Das familiäre Mittelmeerfieber und andere hereditäre Fiebersyndrome

Zusammenfassung

Die hereditären periodischen Fiebersyndrome sind durch periodisch auftretende muskuloskelettale Symptome und stark erhöhte Serumspiegel von C-reaktivem Protein und Serum-Amyloid-A charakterisiert. Das familiäre Mittelmeerfieber wird zumeist bei Patienten mit türkisch-armenischer Herkunft diagnostiziert und mit Colchicum behandelt. Bei Unwirksamkeit von Colchicum oder Kontraindikationen gegen Colchicum kann eine Therapie mit Anakinra oder anderen gegen Interleukin-1 gerichteten Medikamenten erfolgen. Genetische Mutationen können auch bei Patienten ohne positive Familienanamnese nachgewiesen werden, da die Eltern asymptomatische Träger einer autosomal rezessiven Erkrankung sein können. Andere Fiebersyndrome wie TRAPS, CAPS und HIDS müssen abgegrenzt werden, da eine Therapie mit Colchicum bei diesen Erkrankungen unwirksam ist. Das Risiko für eine Amyloidose ist bei allen unbehandelten periodischen Fiebersyndromen deutlich erhöht. Die AA-Amyloidose beginnt mit einer Mikroalbuminurie und führt ohne Therapie zu einem nephrotischen Syndrom und einer terminalen Niereninsuffizienz. Das Amyloidoserisiko kann nur durch eine suffiziente Kontrolle der systemischen Entzündung minimiert werden.

Summary

Hereditary periodic fever syndromes are characterized by periodically muskuloskelettal symptoms and strongly elevated serum levels of C-reactive protein and Amyloid-A. The familial mediterranean fever is diagnosed mainly in patients with turkish-armenian ancestry and is treated with colchicine. In cases of colchicine non-responders or contraindications against colchicine, Anakinra and other interleukin-1 targeted therapies are effective to control disease activity. Genetic mutations can be detected even in the absence of a positive familiy history because parents could be asymptomatic carriers of an autosomal recessive disease. Other periodic fever syndromes like TRAPS, CAPS and HIDS should be differentiated because colchicine is not effective in these patients. The risk of AA-type amyloidosis is strongly elevated in all patients with untreated autoinflammatory syndromes. AA-Amyloidosis starts with micro albuminuria and proceeds without treat ment to a nephrotic syndrome and terminal renal insufficiency. The risk of amyloidosis can be minimized in patients with a sufficient control of the systemic inflammation.

Schlüsselwörter

Familiäres Mittelmeerfieber - Colchicin - Interleukin-1 - Amyloidose - autoinflammatorische Syndrome - Proteinurie - nephrotisches Syndrom

Keywords

Familial mediterranean fever - colchicine - interleukin-1 - amyloidosis - autoinflammatory syndrome - proteinuria - nephrotic syndrome

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