Acne Inversa (AI), or Hidradenitis suppurativa, is a chronic inflammatory disease involving hair follicles that presents with painful nodules that release pus. Establishing a diagnosis of AI often takes about 3 years after disease onset. AI patients have an increased risk of developing associated diseases, such as inflammatory bowel diseases, thereby suggesting a common pathophysiological mechanism. Familial cases (40% of AI patients) have allowed to identify susceptibility genes.
AI severely impairs the quality of life of patients and its high frequency (1% in Europe) causes significant costs for health systems. Our proposal aims at bringing together medical, genetic, experimental and lifestyle data to build a truly personalized model of each patient in order to tailor specific treatments based on their personal characteristics. This will have an immediate impact on therapies and provide a wide-scale overview of previously identified and novel risk markers.
AI patients will be recruited in France, Germany, Austria and Italy. Animal and cellular models will be studied to validate hypotheses on genetic variants. Genomic information will be merged with clinical evaluations and lifestyle data.
The expected outcomes are as follows:
- identify genetic variants associated with AI susceptibility, severity and treatment
- design in vivo and in vitro models to investigate the impact of genetic variants on immune and cutaneous cell biology
- develop a smartphone application to remotely monitor the physical and psychological wellbeing of patients and to advise them on lifestyle adjustments based on their clinical and genetic data
- propose novel stratification and artificial intelligence methods that clinicians can use to assess severity, choose therapy regimen and follow the outcome.