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Rare diseases: why is a rapid referral to an expert center so important?

by informer

Patients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of expertise pose a major challenge to physicians. There are few physicians dealing with patients with rare diseases and they usually work in a limited number of specialized centers. The aim of this study is to evaluate the diagnostic efficiency of an expert center.

For the purpose of this study the diagnostic pathway of 78 patients of the outpatient clinic for rare inflammatory systemic diseases with renal involvement is analyzed retrospectively.

A correct diagnosis is made without the help of the expert in only 21% of cases. Each patient visits an average of 6 physicians before consulting the expert. Targeted diagnostics enabled the expert to make the correct diagnosis with an average of seven visits, or one inpatient stay. However, referral to the expert takes an average of 4 years.

The data show that rapid and targeted diagnostics are possible in the expert center due to the available expertise and the interdisciplinary exchange. Early diagnosis is of great importance for many patients, as an early and correct therapy can be decisive for the course of the disease. Read the full article here.

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