Gaucher Disease

GAUCHER DISEASE abdomen

Last Updated December 20th, 2021

Overview

Lysosomal storage disorders are characterized by the absence or deficit of enzymes required for the digestion of molecules such as carbohydrates and fats. This leads to a toxic accumulation of the unmetabolized material. Gaucher disease is the most common lysosomal storage disorder. In this case, the body is unable to metabolize a certain lipid or fatty molecule known as glucocerebroside. Gaucher disease is a hereditary condition and is found to occur with greater frequency within certain specific populations. The range, severity and age of onset of symptoms is highly variable from one individual to the other. Some may even be asymptomatic.

 

Definition

GAUCHER DISEASE liverGaucher disease is a rare, hereditary metabolic disorder characterized by the deficit of the enzyme glucocerebrosidase. The function of this enzyme is to metabolize a substance known as glucocerebroside. In its absence, abnormally large quantities of glucocerebroside accumulate within the liver, spleen and bone marrow, disrupting the normal functioning of these organs. There are three main types of Gaucher disease, with types 2 and 3 accounting for only about 5% of known cases.

The National Gaucher Foundation reports that approximately 1 in every 450 individuals of Ashkenazi Jewish descent is likely to suffer from some form of Gaucher disease. This disease is significantly rarer in the general non-Jewish population where it is believed to affect 1 in every 40,000 individuals. According to the National Organisation for Rare Disorders, a certain variant of type 3 Gaucher disease is more prevalent in the Norrbotten area of Sweden where it is estimated to affect roughly 1 in every 50,000 individuals. In general, this disease affects men and women in equal numbers.

 

Causes

The direct cause of Gaucher disease is the insufficiency or absence of the enzyme needed in order to break down the fatty molecule known as glucocerebroside. Research has revealed that this occurs because of a recessive mutation in the gene responsible for the synthesis of the necessary enzyme. As many as 150 mutations have been identified that could potentially give rise to this disease.

Gaucher disease is an ‘autosomal recessive disorder’. This means that an individual can only have this disease if he or she inherits the defective gene from both parents. If a person inherits one normal gene and one defective copy, the normal one overrides the defective one. This person will not themselves suffer the effects of the disease, but they are capable of passing the mutation on to their children. Such people are known as carriers. It is estimated that as many as 1 in 10 individuals among those of Ashkenazi Jewish heritage may be carriers of Gaucher disease. When both parents are carriers, the child has a 25% chance of suffering from the disease.

 

Symptoms

GAUCHER DISEASE abdomenThe exact nature of symptoms, their intensity, and age of onset varies depending on the particular type of Gaucher disease. This condition can even be asymptomatic in some individuals. Typical symptoms include:

  • Abnormal enlargement of the liver and/or spleen due to the buildup of glucocerebroside.
  • Resultant distention of the abdomen.
  • Nosebleeds, bleeding from gums and other signs of difficulty in clotting of blood. This results from the malfunctioning of the spleen which causes it to destroy healthy platelets.
  • Anemia resulting from the lack of red blood cells.
  • Extreme fatigue.
  • Enlarged lymph nodes.
  • Short stature and growing deficit.
  • Severe bone pain, the death of bone tissue because of insufficient blood supply to the bones.
  • Osteopenia and osteoporosis.
  • Respiratory disorders.
  • A variety of neurological symptoms such as seizures and ataxia may be seen in types 2 and 3.

 

Types of Gaucher disease

There are three recognized types of Gaucher disease.

  • Type 1 Gaucher disease: This is the most prevalent, implicated in approximately 95% of known cases. Onset often occurs in childhood. Symptoms can vary widely. However, common indications include abnormal spleen enlargement, deficiency of blood corpuscles and debilitating bone defects. It is known as the non-neuronopathic type because there are generally no neurological symptoms.
  • Type 2 Gaucher disease: This type is also known as acute neuronopathic Gaucher disease. It mainly occurs in newborns and young babies, severely affecting the brain. Hence, the risk of early death is very high. Symptoms can even manifest in utero and affected individuals may die prior to birth or soon afterward.
  • Type 3 Gaucher disease: This is known as chronic neuronopathic Gaucher disease. Onset usually occurs in childhood or teenage. This type affects the blood, skeletal system and nervous system. Lung disease may also be observed. Life expectancy is fairly low, with patients not known to survive beyond the fourth decade of life.

Some infants suffering from symptoms characteristic of type 2 may manage to survive into early childhood. This is treated as an intermediate type Gaucher disease since it does not fully conform either to type 2 or type 3.

 

Clinical Complications

GAUCHER DISEASE fractureGaucher disease is associated with an elevated risk of developing malignancies such as liver cancer and various forms of blood cancer.

The adverse effects of this disease on the skeletal system can produce severe arthritis and even weaken the bones to the extent of developing spontaneous fractures.

Reduced ability of the blood to form clots due to the deficit of platelets increases the chances of internal bleeding which can be fatal. Patients and even carriers of Gaucher disease are more likely to develop Parkinson’s disease later in life.

Generally, early onset of symptoms such as anemia and low platelet count is associated with a poorer outlook. A heightened risk of mortality is particularly pronounced with regard to types 2 and 3.

 

Diagnosis

Informing one’s physician about a known family history of Gaucher disease can expedite the process of diagnosis. However, in parts of the world where it is rarely encountered, arriving at an accurate diagnosis of Gaucher disease may be challenging. The wide variance in clinical presentation can further complicate the process.

A simple and effective laboratory test is usually sufficient in order to identify Gaucher disease but most physicians and diagnostic laboratories may not be aware of this. This is a blood test known as beta-glucosidase leukocyte or BGL test. Genetic testing confirms the presence of mutations associated with this disease. This is useful in early diagnosis or screening of individuals with a known family history of Gaucher disease. An early diagnosis can be helpful in preventing or containing severe symptoms with potential long-term implications.

 

Treatment & Prevention

There is no complete cure for Gaucher’s Disease. These various treatment methods help in controlling the various symptoms associated with this disease:

  • Medications: Drugs are prescribed that help in enzyme replacement. Medications that hinder fat production and accumulation such as Zavesca are also helpful. Since osteoporosis is a common outcome of Gaucher’s Disease, medicines that help rebuild the bones are also a part of the treatment.
  • Surgery: Surgery in case of Gaucher’s Disease is done either for bone marrow transplant or removal of the spleen. A bone marrow transplant can help in reversing the Gaucher’s Disease. Spleen removal is usually the last resort when none of the other methods show an improvement in the condition of the patient.

Since it’s a genetic disorder, there are no specific preventive measures for the same. Genetic testing and counseling can help patients with Gaucher’s Disease take up a call when thinking of starting a family.

 

 

Dos and Don'ts

Dos
  • Find a physician who is a specialist in Gaucher’s Disease and maintain a detailed list of symptoms you experience.
  • Be in touch with your doctor and track the symptoms closely. Adjust the medications only after consulting the doctor.
  • Consume a diet rich in Vitamin D and calcium to strengthen your bones and muscles.
Don'ts
  • Delay in the treatment of Gaucher’s disease as it can lead to irreversible and serious consequences.
  • Let go of your health. Exercise regularly and consume a nutritious and well-balanced diet.
  • Ignore genetic counseling before trying to start a family, if you or your partner has a family history of Gaucher’s Disease.

 

 

 

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Lipoprotein (A) Test Lipoprotein (A) test is used to measure and monitor the levels of LDL(Low-Density Lipoprotein) in the bloodstream in…
Appendix pain: Recent findings on this not-so vestigial organ The exact function of the appendix is still not clear. Some consider it as an organ that once…
thyroid_scan
Thyroid Scan Thyroid scan is a diagnostic procedure that aims to view the thyroid gland and detect any growths or…
top 10 deadliest diseases
What are the top 10 deadliest diseases and what is causing them? What are the largest killers of human lives across the globe? Which diseases are the most fatal ones?…
Piaget stages: Do they accurately describe the way the human brain develops?  A common assumption was that children are less competent thinkers as compared to adults, but this was refuted…
antibiotic resistance
Antibiotic Resistance: How common diseases become deadly Can a cold kill you? How important is to get a flu shot? Why do antibiotics fail against…
toxo gondii igm test
Toxo Gondii-IgM Test The toxo gondii IgM test is a blood test that tells the presence or absence of toxoplasmosis IgM…
General adaptation syndrome: Understanding stress, one step at a time The struggle of the body to produce hormones during a stressful situation is the main theme of general…
Top reasons why you need to pay attention to your vitamin B6 intake Vitamin B6- An essential water-soluble vitamin. Its deficiency leads to physical changes such as sores & glossy tongue…
Balneotherapy jacuzzi
5 things you didn’t know about balneotherapy and how you can do it at home Sauna baths have been popular since a long time. But how much more beneficial can balneotherapy be as…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
Squid-ink-spaghetti
Squid Ink: A unique food coloring and flavoring agent Want to add a unique black color to your pasta, noodles and ice-creams? How can you use squid…
PROLACTIN-(PRL)
Prolactin Test (PRL) Prolactin or PRL is a lactogenic hormone produced to induce milk production in lactating mothers. PRL test measures…
Barium-enema
Barium Enema Barium enema is also known as colon x-ray. Here, the patient is asked to consume small amount of…
Pescatarian Diet 101: What are the inherent health advantages of this diet? People opt to become a pescatarian in order to enrich their bodies with the essential health benefits that…
High Fiber Diet – Fire up your fiber intake for these health benefits! Regular bowels, healthy detox, higher immunity, and guaranteed weight loss - a high fiber diet can bring all…
avocado benefits
Avocado: 15 reasons why this fruit should be a staple in your diet Did you know that the word avocado literally means "testicles". Don't get grossed out as this power-packed fruit…
carbamazepine
Carbamazepine / Tegretol test The carbamazepine is a drug that is used to treat epilepsy and the carbamazepine test is performed to…
Helicobacter pylori IGA
Helicobacter Pylori – IgA Test The H.pylori IgA test is a blood test used to identify the level of IgA antigen in the…
Sharpen your brain with these top brain-friendly foods! Did you know your diet could decide how razor sharp your memory is? Or that what you eat…
Astaxanthin: Why experts believe it could be 550x more potent than vitamin E! What is astaxanthin and why is this new supplement on the block touted as the most powerful antioxidant…
Goji berry: A traditional Chinese berry that packs the best of antioxidants Goji berry is an ancient berry that is considered to be power-packed with nutrients and antioxidants. Which means…
Cayenne: The remarkable benefits of these red hot chili peppers These may make you rush for a glass of water, but cayenne pepper is actually a healthy additive…
labiaplasty
Labiaplasty Labiaplasty is a surgical procedure to modify the labia minora and the labia majora. Learn about who can…
tonometry
Tonometry Tonometry uses a device called tonometer to measure the pressure inside the eye. This pressure is depends upon…
Okra: How can this nutrient-dense vegetable help you fight diabetes? Okra is a food which is rich in nutrients and minerals which are extremely essential for a healthy…
Juice Plus: Can you really replace actual fruits with pills?  Juice Plus supplements intend to fill nutritional gaps present in our daily diet. But how successful have they…
Cardiolipin Antibody (ACL) –IgG Test The cardiolipin antibody IgG are responsible for the abnormal formation of clots in veins and arteries or phlebitis…
piles
Best treatment for piles in Bangalore All you need to know about piles and piles treatment in Bangalore - the types of treatment available,…
sugar toxic health
Sugar: 7 new shocking truths revealed about the sweet poison Can drinking soda bring you closer to death? Is sugar slowly poisoning you and your family? You would…
anoscopy
Anoscopy Anoscopy is an invasive diagnostic procedure where a small device known as anoscope will be inserted in the…
valproic acid test
Valproic Acid Test Valproic acid test is performed to generally check for psychiatric and even neurological conditions such as bipolar disease…
free testosterone test
Free testosterone Free Testosterone Test measures and monitors the level of the free testosterone in the blood. Less than 4%…
Mood swings
The real reasons for your mood swings and how to overcome them Are you prone to heated moods frequently? Do you also feel bouts of depressive feeling creeping up on…
anti-chlamydia antibody tets
Anti-Chlamydia Antibody -IgG Test Anti-Chlamydia Antibody - IgG test is performed by collection of urine or genital fluids as sample for testing…
gallbladder diet tomato
Gallbladder surgery :Tips on post-operative care and diet What to eat post a gallbladder surgery? What are the key things to avoid if you had a…
stress adverse effects
Fight, flight, or freeze: 8 ways stress can ruin your body Did you know that stress is in-built in our systems? It helped our ancestors respond to danger. How…
Vitamin b12
Vitamin B12 Test Vitamin b12 is an essential nutrient required for healthy functioning of the nervous system and also development of…
Gua sha: Scraping away layers of pain with this ancient healing tool Gua sha is an ancient oriental healing method which focuses on scraping the body with specific tools to…
hsv-igg
Herpes simplex virus (HSV)-IgG Test Herpes simplex virus I(HSV)-IgG is an Immunoglobulin protein that acts as an antibody which stays in the blood…
Jackfruit: Slice your way into higher immunity, better digestion, & more… Native to the South East Asia, the jackfruit is a fruit brimming with thousands of health benefits. Discover…
Olive Leaf Extract: The healthy goodness of olives in a capsule Olive oil is not the only gift from the Olea Europea tree. Olive leaf extract itself is a…

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