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LACC1 mutation disease

Déformation articulaire du petit doigt
Coxite destructrice


This is a rare genetic auto-inflammatory disease first described in 2015.


Just under 100 patients have been described worldwide to date.
Patients are predominantly from the Mediterranean basin (Middle East, North Africa and Turkey), but cases have been described in China, India and Black Africa.
There is a discreet female predominance.
In 90% of cases, symptoms begin before the age of 3.


The disease is linked to mutations in the LACC1 gene.
The presence of 2 mutations is required to cause the disease. 
Both parents are usually healthy carriers and pass on a single mutation; the disease occurs more often if the parents are related.

The mutation is responsible for a defect in the production of the LACC1 protein, which is essential for the function of certain white blood cells (macrophages).


In the vast majority of cases, patients present with joint pain and swelling in several joints (polyarthritis), and flare-ups of fever with inflammation on blood tests (elevation of C Reactive Protein, CRP) in all cases.


In half of all cases, there may be a skin rash, and a little less frequently diarrhea and digestive signs. The acronym JUVAR stands for JUVenile ARthritis.


Diagnosis of the disease is based on genetic analysis, which involves taking blood samples to look for mutations in the LACC1 gene.

The referring physician may offer family members a consultation to identify other people with the disease. There is no indication for genetic testing in people with no symptoms.


The disease often progresses in " attacks ", with fever and joint swelling requiring treatment.

There are no data specifically concerning fertility in people with LACC1 mutation-associated disease.

However, it is recommended that you consult your referring specialist if you plan to become pregnant, in order to adapt possible treatments.


Patients require specialized management and regular clinical and biological follow-up to monitor inflammation in the blood.

To date, there is no cure for the disease. Where joint symptoms are present, long-term treatment is usually required. Some treatments are taken orally, others by injection under the skin or by intravenous infusion.

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