icd-10-cm code for gaucher disease

What is Gaucher disease?

Gaucher disease is a rare genetic disorder passed down from parents to children (inherited). When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver. This can cause many different symptoms.

What are the 3 types of Gaucher disease?

There are three varieties of type 3 Gaucher: 3a, 3b, and 3c. But these forms sometimes overlap in symptoms. Type 3b may cause liver or spleen problems earlier....Cardiovascular Gaucher may also cause these symptoms in kids:Eye problems.Bone pain.Bones break easily.Mildly enlarged spleen.

What is Gaucher disease type1?

Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function. The fatty substances also can build up in bone tissue, weakening the bone and increasing the risk of fractures.

Is there another name for Gaucher disease?

Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.

Is Gaucher disease a metabolic disease?

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body especially within the bone marrow, spleen and liver.

Is Gaucher disease autoimmune?

Conclusions: Forty five percent of the evaluated type I Gaucher patients exhibited autoimmune phenomena. Additionally, 24% presented with lymphoproliferative disorders.

What is type 2 Gaucher disease?

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain.

What causes Gaucher disease type 1?

Summary. Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside.

How many types of Gaucher disease is there?

There are three types of Gaucher disease (pronounced go-shay). All cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain.

How common is Gaucher disease Type 2?

The annual incidence of GD in the general population is around 1/60,000 and the prevalence is approximately 1/100,000. GD type 2 is very rare, with an incidence of approximately 5% of all GD patients and has a prevalence of virtually zero, taking into account its severity and early death.

What is the average lifespan of a person with Gaucher disease?

Many people with Gaucher disease have few symptoms and can expect a normal lifespan even without treatment. One study estimated life expectancy at birth for people with type 1 Gaucher disease to be 68 years, compared with 77 years in the general population.

Is Type 3 Gaucher disease fatal?

Patients with Gaucher disease type 3 have a shorter life expectancy, but treatment helps some patients with relatively mild neurological involvement live into their 50s. Researchers are investigating new drugs capable of crossing the blood-brain barrier, which acts to protect the brain but also filters out medications.

How many types of Gaucher disease are there?

There are three types of Gaucher disease (pronounced go-shay). All cause similar symptoms in the organs and bones. Some forms of the disease also affect the brain.

How long can you live with Gaucher disease?

From the International Collaborative Gaucher Group (ICGG) Gaucher Registry, the mean life expectancy at birth of patients with Gaucher disease Type 1 has been reported as 68.2 years (63.9 years for splenectomised patients and 72.0 years for non-splenectomised patients), compared with 77.1 years in a reference ...

What is the approximate match between ICd9 and ICd10?

This means that while there is no exact mapping between this ICD10 code E75.22 and a single ICD9 code, 272.7 is an approximate match for comparison and conversion purposes.

What is the medical term for a deficiency in multiple sulfatase?

Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive:561 lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases.:502 It is similar to mucopolysaccharidosis.