International Gaucher Day Date in the current year: October 1, 2025

Gaucher disease belongs to a group of metabolic disorders called lysosomal storage diseases (LSDs). Lysosomes are organelles filled with enzymes that break down large molecules and pass their fragments on to other parts of the cell for recycling. If one of these enzymes is defective, the large molecules accumulate within cells, eventually killing them.

Patients with Gaucher disease have a recessive mutation in the GBA gene on chromosome 1, which causes a deficiency of the enzyme glucocerebrosidase. This results in the accumulation of the sphingolipid glucocerebroside in certain organs, including the spleen, kidneys, liver, lungs, bone marrow, and sometimes brain.

There are three types of Gaucher disease. Type 1, also known as non-neuropathic Gaucher disease, can cause an enlarged spleen and liver, as well as cytopenias (low levels of all or some blood cells), bone pain, osteoporosis, lung problems, easy bruising and bleeding, fatigue, anemia, and susceptibility to infection. Type 1 Gaucher disease is sometimes mistakenly referred to as adult Gaucher disease because the median age of onset is 28 years. However, symptoms can develop at any age, and some patients are asymptomatic. Type 1 Gaucher disease is particularly prevalent among Ashkenazi Jews.

Type 2 (acute neuropathic) Gaucher disease affects the central nervous system, as well as the liver, spleen, lungs, and bones, and is a very rare form of the disease. Early symptoms usually develop within the first six months of life and include poor feeding, slow weight gain, and failure to meet developmental milestones. As the disease progresses, it may cause swallowing problems, high muscle tone (hypertonia), seizures, and severe developmental regression due to progressive brain damage.

Patients with type 3 (chronic neuropathic) Gaucher disease experience visceral and neurological involvement. However, the nervous system is affected much less severely than in type 2 Gaucher disease. They also tend to develop symptoms later in life.

The prognosis for patients with Gaucher disease depends on the type and severity of the disease. Patients with type 1 usually have a slightly shortened life expectancy, but they can live normal lives if they have no clinical symptoms or receive appropriate treatment. Treatment options include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Patients with bone complications may require supportive care, such as bisphosphonates and painkillers.

Type 2 Gaucher disease progresses rapidly and has a very poor prognosis. Although ERT and SRT can alleviate visceral symptoms, they cannot cross the blood-brain barrier and therefore cannot halt neurological decline. Most children with this type of Gaucher disease die within the first few years of life, so their treatment focuses on palliative care.

The prognosis for patients with type 3 Gaucher disease is somewhere in between and depends on the onset and severity of symptoms. As with type 2, ERT/SRT alleviates visceral symptoms but does not prevent neurological decline. However, since the decline progresses more slowly than in type 2, many patients can survive into adulthood with supportive treatment, though they will likely experience significant disability.

International Gaucher Day was launched in 2014 by the European Gaucher Alliance, now known as the International Gaucher Alliance. Its main goals are to raise awareness of the disease, support patients and their families, and improve early diagnosis and treatment options.