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Gaucher disease is caused by an accumulation of specific fatty compounds in your organs, mainly your spleen and liver. This causes these organs to swell and may impair their function.
Fatty molecules can also accumulate in bone tissue, weakening it and increasing the risk of fracture. If your bone marrow is harmed, it can impair your blood's capacity to clot.
In persons with Gaucher disease, an enzyme that breaks down these fatty compounds does not function properly. Enzyme replacement therapy is frequently used in treatment.
Gaucher disease is an inherited condition that is particularly common in Jews of Eastern and Central European heritage (Ashkenazi). Symptoms can manifest themselves at any age.
WHAT ARE THE TYPES OF GAUCHER DISEASE?
Gaucher disease is classified into three categories (pronounced go-shay). All of them cause symptoms in the organs and bones that are comparable. Some kinds of the disease also have an impact on the brain. Gaucher disease is classified as follows:
- Gaucher disease type 1: Gaucher disease type 1 is the most common in the United States and affects the spleen, liver, blood, and bones. It has no effect on the brain or the spinal cord. Type 1 Gaucher illness is treated, but there is no cure. Some folks have modest symptoms. Others report significant bruising, exhaustion, and discomfort, particularly in the bones and abdomen. From childhood through maturity, symptoms might emerge at any age.
- Gaucher disease type 2: Type 2 is an uncommon variant of the illness that affects babies under the age of six months. It results in an enlarged spleen, mobility difficulties, and severe brain damage. Gaucher disease type 2 has no treatment. Babies with this disease die within two to three years of birth.
- Gaucher disease type 3: Gaucher disease type 3 is the most common variety worldwide, however it is uncommon in the United States. It arises before the age of ten and causes bone and organ abnormalities as well as neurological (brain) issues. Many persons with Gaucher disease type 3 can live into their 20s or 30s because to treatments.
WHO IS AT RISK OF GAUCHER DISEASE?
Gaucher disease type 1 can affect anyone, however persons of Ashkenazi Jewish (Eastern European) origin are more likely to have it. Nearly one in every 450 persons of Ashkenazi (or Ashkenazic) Jewish origin has the illness, and one in every ten contains the gene mutation that causes Gaucher disease.
Ancestry has little bearing on who develops Gaucher disease types 2 and 3. People of many ethnicities are affected by the condition.
WHAT ARE THE SYMPTOMS OF GAUCHER DISEASE?
Gaucher disease symptoms differ from person to person. Some persons with Gaucher illness experience just minor symptoms or none at all. Symptoms in other people can lead to major health problems and death. The following are symptoms of all three types of Gaucher disease:
Organ and blood-related problems
People with Gaucher disease may experience a variety of symptoms in the blood and organs when fatty molecules accumulate in the body. Brown pigmented spots might appear on the skin at times. The following symptoms range from mild to severe:
- Anemia: When lipids accumulate in the bone marrow, they damage red blood cells. Red blood cells are responsible for transporting oxygen throughout the body. Anemia is defined as a lack of red blood cells.
- Enlarged organs: The spleen and liver enlarge as fatty substances accumulate, causing the belly to swell and become tender. Platelets (blood cells that help blood clot) are destroyed by an enlarged spleen, resulting in a low platelet count and bleeding difficulties.
- Problems with bruising, bleeding, and clotting: People with Gaucher disease bruise readily due to a low platelet count. Their blood does not clot properly. Even after minor injuries, surgery, or nosebleeds, they are at danger of significant or protracted bleeding.
- Fatigue: People with Gaucher disease frequently develop weariness as a result of anemia (feeling tired all the time).
- Lung issues: Fatty substances build up in the lungs and make breathing difficult.
Problems with the bones
When bones do not receive the necessary blood, oxygen, and nutrition, they weaken and break down. Gaucher disease patients may experience bone and joint symptoms such as:
- Pain: Pain in the bones is caused by decreased blood flow. Gaucher disease is characterized by arthritis, joint discomfort, and joint degeneration.
- Osteonecrosis: A shortage of oxygen to the bones causes this illness, also known as avascular necrosis. Without sufficient oxygen, bone tissue breaks and dies.
- Bones that easily fracture: Gaucher disease causes osteoporosis, a disorder in which the bones do not receive enough calcium. Bones can break readily if you have osteoporosis (or osteopenia, a minor form of osteoporosis). Skeletal anomalies can result from weakened bones.
Problems with the brain and the brain stem
Gaucher disease types 2 and 3 produce neurological (brain) difficulties in addition to blood, organ, and bone symptoms. These symptoms appear in infants with Gaucher disease type 2 within the first six months of life. They may be born with skin defects. Gaucher disease type 3 symptoms start at the age of ten and worsen over time.
Gaucher disease types 2 and 3 have the following neurological symptoms:
- Feeding difficulties and developmental disabilities (in babies with Gaucher disease type 2)
- Difficulties with cognition
- Eye issues, particularly when moving the eyes side to side
- Coordination and gross motor skills issues
- Seizures, muscle spasms, and jerky movements are all possible
WHAT ARE THE CAUSES OF GAUCHER DISEASE?
Gaucher disease is a metabolic illness that is hereditary. It is passed down from generation to generation. The enzyme glucocerebrosidase is deficient in people with Gaucher disease (GCase). Enzymes, such as GCase, are proteins that perform a variety of functions in the body, including the breakdown of fats (sphingolipids).
When the body lacks these enzymes, fatty compounds (called Gaucher cells) accumulate in the organs, bone marrow, and brain. Excess fats produce a variety of difficulties and symptoms. They have an effect on how the organs perform, as well as destroying blood cells and weakening bones.
HOW IS GAUCHER DISEASE DIAGNOSED?
During a physical exam, your doctor will press on the abdomen of you or your child to assess the size of the spleen and liver. The doctor will compare your child's height and weight to established growth charts to discover if he or she has Gaucher disease.
He or she may also suggest specific lab testing, imaging studies, and genetic counseling.
Lab tests
Blood samples can be tested for the enzyme linked to Gaucher disease. A genetic test can determine whether you have the condition.
Imaging Tests
Gaucher disease patients often require periodic tests to track the disease's course, which include:
Dual energy X-ray absorptiometry (DXA): This test measures bone density using low-level X-rays.
MRI: An MRI uses radio waves and a strong magnetic field to determine whether the spleen or liver is enlarged, as well as whether the bone marrow has been impacted.
Prenatal testing and preconception screening
If you or your spouse are of Ashkenazi Jewish descent or have a family history of Gaucher disease, you should consider genetic screening before conceiving a family. In some circumstances, doctors advise prenatal testing to determine whether the fetus is at risk of Gaucher illness.
HOW IS GAUCHER DISEASE TREATED?
While there is no cure for Gaucher disease, there are a number of treatments that can help control symptoms, avoid permanent damage, and enhance quality of life. Some people's symptoms are so minimal that they may not require therapy.
Your doctor will most likely propose routine monitoring to keep an eye out for disease progression and problems. Your situation will determine how frequently you will need to be monitored.
Medications
Many Gaucher disease patients have reported improvement in their symptoms after starting therapy with:
- Enzyme replacement therapy: This method substitutes artificial enzymes for the defective ones. These replacement enzymes are often administered in high doses at two-week intervals during an outpatient operation through a vein (intravenously). Enzyme therapy might cause allergic or hypersensitive reactions in certain persons.
- Miglustat (Zavesca): This oral drug appears to inhibit the synthesis of fatty compounds that accumulate in Gaucher disease patients. Common adverse effects include diarrhea and weight loss.
- Eliglustat (Cerdelga): This medication also appears to suppress the synthesis of fatty compounds in persons with the most common form of Gaucher disease. Fatigue, headache, nausea, and diarrhea are all possible adverse effects.
- Osteoporosis medications: These medications can help restore bone that has been compromised by Gaucher disease.
Surgical and other procedures
If your symptoms are severe and you are not a candidate for less invasive therapies, your doctor may recommend the following:
- Transplantation of bone marrow: Blood-forming cells that have been destroyed by Gaucher disease are removed and restored in this operation, which can correct many of the Gaucher signs and symptoms. Because this is a high-risk procedure, it is used less frequently than enzyme replacement therapy.
- Spleen removal: Prior to the availability of enzyme replacement therapy, removing the spleen was a typical treatment for Gaucher disease. This surgery is now often utilized as a last resort.
HOW CAN GAUCHER DISEASE BE PREVENTED?
If you have the gene mutations, there is no way to prevent Gaucher disease. If you are at danger, it is prudent to undergo testing. Gaucher disease type 1 can cause bone and organ damage if not treated early.
If a DNA test reveals that you are a Gaucher carrier and intend to start a family, consult your provider. A genetic counselor can provide you with additional information and assist you in developing a plan to reduce the likelihood of passing on the gene.
A Gaucher disease diagnosis might be stressful. You may be concerned about your child's future or what this means for your own health, but excellent therapies — as well as new research — provide hope. You can reduce symptoms and prevent long-term harm by following a treatment plan and working closely with your clinician. Discuss with your provider how to manage the disease and monitor your health.