Autor:innen:
Karina Manz, Berlin (Germany)
Ariane Höer, Berlin (Germany)
Kai-Uwe Saum, Grenzach-Wyhlen (Germany)
Laura Girardat-Rotar, Grenzach-Wyhlen (Germany)
Frederike Basedow, Berlin (Germany)
Wolfgang Galetzka, Berlin (Germany)
Holger Gothe, Berlin, Dresden, Hall in Tirol (Germany)
Introduction Huntington’s disease (HD) is a neurodegenerative and fatal hereditary disease with no curative or progression-delaying treatment. HD-specific genetic testing is available to confirm HD diagnosis or predict HD development before symptoms become apparent. Currently, there are no results on the use of HD-specific genetic testing in Germany. Method Based on anonymized German health claims data, we determined estimates of the prevalence and incidence of HD and treatment situation of HD patients and extrapolated the frequency of HD-specific genetic testing to the German population. We further assessed the occurrence of HD-associated symptoms pre-, and the number of confirmed HD diagnoses post-genetic testing. We identified HD cases based on documented outpatient and inpatient ICD-10 codes (G10). Outcome The prevalence and incidence of HD in Germany were 8.7 and 0.7 per 100,000 in 2018, respectively. The mean age of prevalent cases was 60.1 years. Prescriptions (Rx) for antipsychotics were the most frequent (67.0%), followed by antidepressants (39.1%).The most prescribed medical aids were incontinence pads (36.2%) and wheelchairs (14.3%). 44.1% and 25.4% of cases received physical therapy and speech therapy, respectively. Care delivery of outpatient visits, diagnoses, and Rx was concentrated to a small number of involved physicians. 33 individuals received HD-specific genetic testing in 2017, corresponding to an expected testing number of 745 when extrapolated to the German population. The most frequent symptoms in the year before testing were depressive episodes, extrapyramidal diseases and movement disorders (39.4% each). 36.4% of tested individuals had no documented symptoms pre-testing; 33.3% of tested individuals were diagnosed with HD within 60 days post-testing. Conclusion Our study provides recent estimates of the prevalence and incidence of HD, the treatment situation of HD patients in Germany, and insights into the use of HD-specific genetic testing.