Lysosomale Speichererkrankungen: Herausforderungen bei der sektorübergreifenden, multiprofessionellen Patientenversorgung mit Enzymersatztherapie

Zusammenfassung

Hintergrund Aufgrund ihrer Seltenheit sind Studien bei Orphan Diseases schwierig. Nur für wenige dieser Erkrankungen stehen kausale Therapien zur Verfügung. Die Entwicklung und Herstellung von Medikamenten wie bspw. Enzymersatztherapien (ERT) ist aufwändig, die Patientenzahl niedrig, was zu hohen Preisen führt. Am Beispiel einer Gruppe angeborener Stoffwechselerkrankungen, den lysosomalen Speichererkrankungen (LSDs), beleuchten wir die Herausforderungen bei der sektorübergreifenden Dauertherapie unter Zugrundelegung einer Literaturrecherche in Pubmed sowie eigener Erfahrungen. Viele ERTs haben ein positives Kosten-Nutzen Verhältnis. Mögliche Nebenwirkungen sind schwere allergische Reaktionen bis hin zur Anaphylaxie. ERT ist zu Lasten von GKV/PKV verschreibungsfähig, Regresse aufgrund Richtgrößenüberschreitung lassen sich mit „Praxisbesonderheiten“ umgehen. Die Verabreichung der intravenösen ERT ist weniger gut geregelt. Ein stationärer Aufenthalt zur ERT führt oft zu finanziellen Problemen (untere Grenzverweildauer), wenngleich dieser Verabreichungsmodus der sicherste ist. Ein tagesstationärer Aufenthalt ist am günstigsten, wobei bei dieser Option die Übernahme der Kosten für die ERT außerhalb der Tagesklinkpauschale durch GKV/PKV im Vorfeld zu klären ist. Eine ambulante Heimtherapie ist machbar, die Entscheidung hierfür muss für jeden Patienten sorgfältig individuell abgewogen werden. Die Durchführung der ERT wird vom behandelnden Arzt an ein Schwestern-/Pflegerteam delegiert, haftungs-, strafrechtliche sowie ethische Aspekte sind im Vorfeld zu klären. Die sektorübergreifende Therapie von LSDs ist mit (lösbaren) Herausforderungen behaftet.

Abstract

Background Due to their rarity studies in (ultra-) rare diseases are difficult. Only for a minority of these diseases causal therapies are available. Development and production of enzyme replacement therapies (ERT) for example are challenging and expensive. The number of patients is low, costs per patient are high. We will focus on the challenges of providing long-term ERT to patients with lysosomal storage diseases (LSD) in an out- and inpatient setting based on a literature search in Pubmed and own experience. Many ERTs for LSDs have a positive cost-benefit ratio. Possible side-effects are severe allergic reactions. ERT is covered by the insurance companies when prescribed by a physician, however they are liable to recourse by the insurance company as the expenses for drugs of the prescribing physician will be above average. In most cases the recourse can be averted if diagnoses of individual patients are disclosed. Intravenous infusion of ERT is not well-regulated in Germany/Austria. Infusion on a ward is safe however often not covered by the insurance companies as patients do not stay overnight. Another option is infusion in a day-care setting, however the lump sum paid for infusion does not cover costs for ERT. On an individual basis, reimbursement for medication (ERT) has to be negotiated with the insurance companies before infusion takes place. Home infusions are feasible, however careful evaluations of the infusion-team and the risk for side-effects have to be performed on an individual basis, legal issues have to be considered. In- and outpatient ERT of patients with LSDs is challenging but feasible after individual evaluation of patient and infusion team.

Schlüsselwörter

lysosomale Speichererkrankungen - Enzymersatztherapie - Heimtherapie - Allergie - Kostenübernahme

Key words

lysosomal storage diseases - enzyme replacement therapy - home therapy - allergy - reimbursement

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