Every month, BlueDil focus on a different rare and severe disease.

 

What is the FHL?

Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare genetic disease that affects the immune system and the digestive system in some cases. This disease can be caused by 4 different genetic mutations.

 

How is this disease characterized?

White blood cells are no longer able to defend themselves against the attack of a virus or bacteria. They activate themselves with the objective of destroying the cells infected by the virus but they do not reach their target, they get excited and attack the healthy cells of our organs (liver, brain, lungs…). This uncontrolled response can cause serious consequences, including death.

 

Who is affected by FHL?

This rare disease usually occurs during the first year of life and mostly affects babies. There are 300 patients in France and about 1000 patients in Europe affected by FHL.

 

Is there a cure for FHL?

Today the only existing treatments are immunotherapy and bone marrow transplantation. Children who are affected in the intestine, suffer from digestive malabsorption and have to depend on parenteral nutrition all their lives.

 

What is the role of associations in rare diseases such as FHL?

Patient associations such as FHL Espoir play a major role in supporting research and carrying out solidarity and support actions in favor of patients.
In the case of FHL, research is underway to find alternative treatments for immune and digestive disorders. In 2020, LHF Espoir, a french association, raised €10,000 for FHL research. It hopes to raise up to €30,000 per year in the following years!

Find all the details on this rare disease on the LHF Espoir website (www.lhfespoir.org) and the interview of a research director (from the Imagine Institute) on the research work of the LHF (https://lhfespoir.org/recherche).