There are different kinds of disorders that a person may suffer from. These disorders impact their health to some extent and lower the quality of life for a person suffering from them. Gaucher disease is such an inherited disorder. A person with Gaucher disease usually has some build-up of fatty substances in the person’s body. The build-up of fatty substances may happen in organs, usually organs such as the liver or spleen of the person. When a person suffers from Gaucher disease, the enzyme that breaks down the fatty substances accumulated in the body does not function as it should. This accumulation of fatty substances in the body may pose unique issues for the person, causing them to experience unique issues and health struggles. It is advisable to learn about Gaucher disease symptoms and how to manage it correctly to ensure that it does not diminish the quality of a person’s life and allows them to live generally to the farthest extent.

Who Does Gaucher Disease Affect?

Gaucher Disease - Gaucher Disease Symptoms

A single person in every 50,000 to 100,000 people experiences the symptoms of Gaucher disease. Every medical condition has some effect and affects some kind of people or a group of people in general. One may like to stay aware of what kinds of people may be prone to certain diseases or medical conditions to stay aware of what could affect them or those around them. Gaucher disease is an inherited condition that causes a build-up of certain fatty substances in specific organs like the spleen and liver. Different Gaucher disease symptoms may arise. Gaucher disease may be passed from a parent to their child because of an inheritance pattern known as autosomal recessive. For a child to pick up the disease from the parents in this manner and receive a Gaucher disease diagnosis, both the parents must be carriers of a Gaucher changed or mutated gene. The child will only be able to inherit the mutated gene for Gaucher Disease in this way. This happens because an enzyme that is supposed to break down fatty substances does not work like it should, causing the enlargement of the organs of the person that suffers from it. Gaucher’s disease is due to the deficiency of the enzyme.
Different Gaucher disease types may affect different people, which are classified as type 1, type 2, and type 3 Gaucher disease, for which they may be afforded Gaucher disease treatment. Still, it must be noted that the leading group that may be impacted by the inherited medical condition of Gaucher disease is Jewish people of some Eastern or Central European descent. These persons may be referred to as Ashkenazi. It must be noted, however, that no particular age group may experience the Gaucher disease symptoms, primarily impacted by Gaucher disease.

Gaucher Disease Symptoms

General Gaucher disease symptoms are:

  • The spleen of the person is bloated in size
  • Expansion in the size of the liver of a person
  • Abnormal eye movement
  • The eyes of the person have yellow spots
  • Anemia
  • Fatigue
  • Bruising
  • Lung problems
  • Seizures

Each medical condition has some symptoms. Since Gaucher disease is essentially an inherited condition, a person may not know that they have it unless they show some symptoms for it, for which they may get tested to receive a suitable Gaucher disease diagnosis. The person has not developed this condition due to bad habits or risky activity but will generally have it because it is passed down from a relative or their parent. There are three different Gaucher disease types that may affect people and their health in different ways.
There are different Gaucher disease types. These Gaucher disease types are known as type 1, type 2, and type 3 of Gaucher Disease. Type 1 is the most common type of Gaucher disease observed in most people. Persons suffering from Gaucher disease may suffer from it at different levels, and the condition of Gaucher disease may not be fatal for everyone suffering from it. Generally, persons that experience some Gaucher disease will experience symptoms like abdominal issues, abnormalities related to their skeleton, and blood disorders. Abdominal complaints usually arise due to the enlargement of organs such as the liver or the spleen, which are the organs that are most likely to become enlarged due to Gaucher disease condition. As a result of the liver and spleen enlarging, a person’s abdominal region may also become bloated and enlarged. As a result, causing numerous issues relating to the abdomen of the person resulting in complaints related to it.
Gaucher disease can be debilitating for the person. The impact of Gaucher disease on a person’s life may be the impact of which of the Gaucher disease types one is dealing with. As a result of Gaucher disease, a person may suffer from weakened bones. When a person has weakened bones, they become more susceptible to skeletal issues like fractures which may also be quite painful for the person. Further issues may be related to the blood supply to a person’s bones. When there is inadequate blood supply to a person’s bones, the bone may even die due to insufficient blood. In the case of blood disorders, a person with Gaucher disease may experience a fall in the number of healthy red blood cells (also known as RBC). The fall in the amount of healthy red blood cells may result in fatigue. Cells that are responsible for clotting may be impacted when a person has Gaucher disease, which may lead to issues such as being able to bruise easily and nosebleeds.

Rare Symptoms Of Gaucher Disease

Many types of medical conditions may have symptoms that not everyone who has the condition may experience. Some patients of Gaucher disease may experience Gaucher disease symptoms common to most people with the disease. At the same time, there may also be groups of people who experience symptoms that may be considered rare in addition to the symptoms common to other patients with Gaucher disease. It may be crucial to notice Gaucher disease symptoms in order to give the patient a Gaucher disease diagnosis. These Gaucher disease symptoms that are rare in nature may require a different kind of assistance and may have varying effects on patients that experience them. It is a good idea to be aware of these symptoms, especially if a person is a patient of Gaucher disease and has not yet experienced any of these symptoms.
If a person has already been experiencing some symptoms, they may approach a medical professional and consult them on how they may approach the issues they face. The Gaucher disease symptoms that one may experience but are not as common usually involve a different kind of care than the general Gaucher disease symptoms. One may experience certain effects of the condition related to the brain. As a result of the condition affecting the brain, people might experience unusual eye movements, experience rigidity in their muscles which hinders their ability to move around, issues related to swallowing, which may make eating food and drinking liquids very difficult, as well as seizures, which are uncoordinated, random and quick electric firing that may happen in a person’s brain. Seizures can cause further complications such as abnormal behavior, abnormal movements like random stiffness in the body of a person or sudden jerking of a person’s arms and legs, confusing sensations, the person losing consciousness, and an altered level of consciousness. Some types of Gaucher disease, primarily type two Gaucher disease, may only affect babies and is usually fatal in nature. When this type of Gaucher disease occurs, it may not only severely impact the patient but may also lead to the death of a person.

Types Of Gaucher Disease

Gaucher disease symptoms arise due to a deficiency of the enzyme that breaks down fatty substances known as lipids. Different Gaucher disease causes and Gaucher disease types may affect people differently and need a different kind of Gaucher disease treatment accordingly. Some may be more severe, while others may affect people with the condition much less. When diagnosed with Gaucher disease, it may be a good idea to try and understand the type of Gaucher disease that the person is suffering from, the symptoms of that type, the effects it may have on the person over a period of time, the prognosis of the type of Gaucher disease or the general or the kind of course of treatment for that particular type of Gaucher disease that will be taken. This will help the person understand the type of Gaucher disease they are facing and be prepared for the medical treatment journey they will be making concerning their medical condition. There are three different types the Gaucher disease has been categorized into. These types of Gaucher disease differ in terms of the group they affect and the symptoms one may experience. These types are categories for the people diagnosed with Gaucher disease so that they can be diagnosed and treated with much more ease.

Type 1 Gaucher Disease

Type 1 Gaucher disease is the type of Gaucher disease observed in most people. About 90 percent of people with Gaucher disease will suffer from type 1 Gaucher disease. A person suffering from type 1 Gaucher disease lacks the regular amount of blood platelets in their blood, which may make the person prone to experiencing fatigue as a result. A person may be affected by Gaucher disease and its symptoms regardless of age and may start experiencing symptoms at any point in time. As a result of type 1 Gaucher disease, one may observe that the person has enlarged organs, usually the person’s liver or spleen, which may have become distended as a result of the filling of the fatty substances called lipids. A person may also experience certain complications related to their kidneys, lungs, or skeleton.

Type 2 Gaucher Disease

Type 2 Gaucher disease is a much more serious form of Gaucher disease which may cause severe effects and mostly affects infants and children. It primarily impacts babies who fall between 3 and 6 months of age. Babies and children with type 2 Gaucher disease may suffer a lot and usually do not make it past the age of two. Type 2 Gaucher disease is hence generally fatal. If someone may receive a diagnosis for the same if they are showing Gaucher disease symptoms, one may almost assume that they will not be able to make it and be successfully treated for the condition.

Type 3 Gaucher Disease

Type 3 Gaucher disease may significantly impact a person with unique Gaucher disease symptoms, unlike type 1 Gaucher disease and type 2 Gaucher disease. This type may involve issues and Gaucher disease symptoms that are related to a person’s skeleton, disorders impacting the eye movements of a person. These seizures become increasingly prominent with the passage of time. These disorders are primarily related to blood, respiratory issues, and enlargement of certain organs, which may include the liver and spleen of a person.

Gaucher Disease Treatment

The Gaucher disease treatment consists of the following:

  • Enzyme replacement therapy
  • Medicines
  • Physical exams and bone density screening, that may be conducted periodically
  • Bone marrow transplant
  • Surgery
  • Joint replacement surgery
  • Blood transfusions

When suffering from some medical condition or a health issue that is having some detrimental impact on the life of a person, they may like to try and understand how this may be treated, the most suitable kinds of treatment, the costs of treatment related to that particular medical condition and what medical professional they may consult to get the best treatment for it. One may also be interested in discovering the different types of Gaucher disease treatment. A diagnosis of Gaucher disease may need to be received before a person progresses with the treatment. Enzyme replacement therapy may be beneficial for those who have Gaucher disease, especially those who are experiencing Type 1 Gaucher disease and Type 3 Gaucher disease. Certain medicines may be suitable for some people who have the condition, based on consultation with a medical professional who is qualified to do so. Routine physical exams and bone density screening may assist in checking the progression of Gaucher disease. Some patients may also need a bone marrow transplant in case they do not have enough bone marrow matter in their bones. Surgery may be carried out to remove a part or whole of a person’s spleen if needed. If a person’s joints experience some issues and are not functioning as they should, they may be encouraged to get joint replacement surgery. A person may also be encouraged to get blood transfusions in case they have deficient blood platelets or some other kind of issue related to their blood because of Gaucher disease. These types of Gaucher disease treatment will assist in improving the health and overall condition of Gaucher disease patients even though there is no actual cure for it.

Gaucher Disease Causes

The different Gaucher disease causes are:

  • Deficiency of enzyme that breaks down fatty substances
  • Inheritance

There may be a multitude of Gaucher disease causes. Gaucher’s disease is due to a deficiency of an enzyme that breaks down particular types of fatty substances that may exist in some person’s organs due to a genetic issue. The organs that are usually impacted due to Gaucher disease experience the accumulation of fatty substances, which are called ‘lipids’ in their spleen or liver. The primary cause of Gaucher disease causes would be through inheritance of the genetic issue from the parents to their child. Since the genetic disorder is passed down from the parents to the child, Gaucher disease is considered an ‘inherited genetic disorder’.

Complications Related To Gaucher Disease

The complications of Gaucher disease can be:

  • Growth setbacks
  • Gynecological and maternal issues
  • Parkinson’s Disease
  • Cancer

Different medical conditions may have varying kinds of complications that are related to their symptoms. Gaucher disease also has some kinds of complications that may affect a person and serve as an addition to its symptoms. Patients of Gaucher disease may suffer from some kinds of complications. They may need further medical assistance than the general Gaucher disease treatment that is given to a patient who has the condition. These complications could manifest in the form of particular growth setbacks for children and people who are going through puberty and have Gaucher disease. It may cause gynecological issues as well as maternal issues for people. Women may face issues relating to their pregnancies and may even face more complications than normal if they are pregnant and a patient of Gaucher disease. It has also been observed that those who suffer from Gaucher disease may also suffer from Parkinson’s Disease later on as a possible complication of it. Parkinson’s disease is a disease that affects the nervous system in a person’s body. When a person has Parkinson’s disease, they will experience some form of nerve cell damage, due to which a person will experience a drop in dopamine levels. A person may experience some tremors in their hands, not being able to move, stiffness, and loss of balance of the person. While one may be able to take medicine to reduce the effect of Parkinson’s disease, it does not have any cure at the moment. It may get worse over time and shortens a person’s life span. People that have suffered from Gaucher disease have also been seen to suffer from different kinds of Cancer. These types of Cancer may include Myeloma, Leukemia as well as Lymphoma.

Why Should Someone Understand Medical Conditions Like Gaucher Disease?

Medical conditions like Gaucher disease can affect a person and may significantly reduce their quality of life, especially if such conditions go unchecked. As a result, it is recommendable that people are aware of such medical conditions, primarily those at a higher risk of experiencing the effects of it. While Gaucher disease may not be the most common genetic disorder and is considered rare, in case a person experiences symptoms related to the same and is aware of what the Gaucher disease causes, symptoms of Gaucher disease are. The kind of professional assistance they may need for the same, they can take quick steps to approach the necessary medical professional and receive the required treatments. Being knowledgeable about medical conditions such as Gaucher disease may also assist a person if they want to donate to some cause. If they donate to patients suffering from Gaucher disease, they will know about the medical condition, and reading about it extensively at that time will not be necessary.

Conclusion

Healthcare is important for everyone. People that suffer from rare genetic issues are hardly ever able to get the necessary attention related to their disease. It is important to do so otherwise we will be ignoring the needs of a great part of the population that needs urgent help from others who may be struggling less than them and are more able. Everyone deserves to have the right kind of medical attention for any health condition they face. In order to get the right type of attention from a medical professional, one may have to have at least a decent understanding of what kind of medical condition they are facing. This is why it becomes important to understand more about Gaucher disease if one is facing the medical condition or has symptoms that may be similar to the symptoms faced by patients of Gaucher disease. The Gaucher disease may negatively impact a person’s life unless one can learn how to deal with it. Every person wants to have a good quality of life and feel independent and healthy. To ensure this, it is important to address medical conditions like Gaucher disease correctly. Gaucher disease is an inherited condition that can be debilitating in some circumstances for people suffering from it. While the fact that someone may have Gaucher disease is out of their control, the way the person approaches the condition may make all the difference.

Treatment for Gaucher disease may get expensive depending on the severity of the patient. In such cases, where its difficult to manage funds for medical treatment, fundraising on websites like Impact Guru is a great option, as Impact Guru helps raise money for medical needs and emergencies.