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Gaucher disease occurs due to the buildup of particular fatty substances within specific organs, mainly the liver and spleen. This accumulation can lead to an enlargement of these organs, disrupting their normal functions. Additionally, these fatty compounds might amass within bone tissue, resulting in its weakening and an increased susceptibility to fractures. In cases where the bone marrow is affected, there could be a negative impact on your blood’s ability to clot effectively.
People with Gaucher disease have improper function of an enzyme that breaks down these fatty compounds. Enzyme replacement therapy is frequently used during treatment.
Gaucher disease, an inherited condition, is particularly prevalent in Jews of Eastern and Central European descent (Ashkenazi). Every age can experience symptoms.
While a definitive treatment for Gaucher disease remains elusive, there are effective strategies to significantly improve quality of life and alleviate symptoms.
3 Types of Gaucher disease
Gaucher disease manifests in three distinct forms, each of which brings about similar symptoms in your bones and organs. Certain types of the disease also impact your brain and nervous system.
Gaucher disease type 1
The most common variant of Gaucher disease in the United States is type 1, which impacts your liver, spleen, blood, and bones. Unlike other types, it does not affect your spinal cord or brain. While there is no known cure, type 1 Gaucher disease can be managed. Symptoms can vary, with some individuals only experiencing mild effects. However, others may suffer from pronounced bruising, fatigue, and pain, particularly in the abdomen and bones. Symptoms can appear at any age, ranging from early childhood to late adulthood.
Gaucher disease type 2
Gaucher disease type 2 is an uncommon variation of the disorder that affects infants under the age of six months. Along with serious brain damage, it results in an enlarged spleen and movement issues. There is no cure for Gaucher type 2 sickness. Typically, babies with this disease die within two to three years of birth.
Gaucher disease type 3
The most prevalent form of Gaucher disease is type 3 worldwide. It first manifests before the age of ten and leads to neurological (brain) issues as well as bone and organ abnormalities. Many patients with Gaucher disease type 3 can live into their 20s or 30s with the use of treatments.
Symptoms
Gaucher disease comes in various forms, and even within a kind, the disease’s signs and symptoms can range significantly. The most typical type is by far type 1.
The intensity of the condition can differ among siblings, including identical twins. In certain patients, Gaucher disease might present with minimal or even absent symptoms.
The majority of individuals with Gaucher disease experience the following problems to varying extents:
- Abdominal complaints. The abdomen can swell severely because the liver and especially the spleen can grow substantially.
- Skeletal abnormalities. Bone fragility brought on by Gaucher disease raises the possibility of painful fractures. Additionally, it may interfere the blood flow to your bones, which may result in some bone tissue dying.
- Blood disorders. Anemia, a reduction in the number of healthy red blood cells, can cause extreme weariness. The clotting cells are also impacted by Gaucher disease, which can lead to nosebleeds and easy bruising.
In rare instances, Gaucher disease can impact the brain, leading to seizures, muscle stiffness, swallowing difficulties, and abnormal eye movements. There is a rare form of Gaucher disease that begins in infancy and tragically often leads to the patient’s demise by the age of two.
If you or your child show any signs and symptoms of Gaucher disease symptoms, it is advisable to arrange a medical appointment.
Causes
Gaucher disease is inherited in a manner known as autosomal recessive. For a child to inherit the disorder, both parents must have the Gaucher altered (mutated) gene.
Risk factors
Jewish people with heritage from Eastern and Central Europe (Ashkenazi) are more likely to have the most frequent form of Gaucher disease.
Diagnosis
Your doctor will press on the abdomen of you or your child during a physical examination to measure the size of the liver and spleen. The doctor will compare your child’s height and weight to established growth charts to determine if they have Gaucher disease.
Additionally, he or she might suggest particular lab testing, imaging exams, and genetic counseling.
Lab tests
The enzyme linked to Gaucher disease can be measured in blood samples. Genetic testing can determine if you have the condition.
Imaging Tests
Typically, Gaucher disease patients need serial testing to monitor the disease’s development, such as:
- Dual Energy X-ray Absorptiometry (DXA).This examination measures bone density using low-dose X-rays.
- Magnetic Resonance Imaging (MRI).An MRI uses radio waves and a strong magnetic field to reveal whether the liver or spleen is enlarged as well as whether the bone marrow has been impacted.
Preconception screening and prenatal testing
If either you or your partner is of Ashkenazi Jewish background or if one of you has a family history of Gaucher disease, you might want to think about genetic testing before raising a family. Doctors occasionally advise prenatal testing to determine whether the fetus is at risk for Gaucher disease.
Treatment
While a definitive cure for Gaucher disease remains undiscovered, there are multiple treatments available to effectively handle symptoms, prevent lasting damage, and improve overall well-being. Not everyone necessitates treatment, as some individuals experience only mild symptoms.
Your medical practitioner will likely recommend regular checkups to monitor disease progression and potential complications. Depending on your situation, periodic assessments may be necessary.
Medications
Many persons with Gaucher disease have had symptom improvements after starting treatment with:
- Enzyme replacement therapy. With this method, artificial enzymes are used to replace the deficient ones. These replacement enzymes are normally administered in high quantities every two weeks via an outpatient operation into a vein (intravenously). An allergic or hypersensitive reaction to enzyme therapy does occur occasionally.
- Miglustat. This oral drug seems to prevent the synthesis of the fatty compounds that accumulate in Gaucher disease patients. Weight loss and diarrhea are frequent adverse effects.
- Eliglustat. Additionally, this medication appears to prevent the development of fatty compounds that accumulate in those with the most prevalent form of Gaucher disease. Consequences include weariness, headaches, nausea, and diarrhea are possible.
- Osteoporosis drugs. These medicines can aid in the restoration of bone that has been weakened by Gaucher disease.
Surgery and other procedures
In cases of severe symptoms where less invasive treatments are not suitable, your physician might suggest the following:
- Bone marrow transplant. Many of the signs and symptoms of Gaucher disease can be reversed with this treatment, which involves the removal and replacement of blood-forming cells that have been harmed by the disease. This method is used less frequently than enzyme replacement therapy because it carries a higher risk.
- Spleen removal. The spleen was frequently removed as a treatment for Gaucher disease prior to the development of enzyme replacement therapy. This procedure is usually employed as a final option.
