A uncommon genetic condition known as Gaucher disease impairs the body’s capacity to break down a particular kind of fat known as glucocerebroside. As a result, this causes the fat to accumulate in many organs and tissues, including the spleen, liver, and bone marrow. Mutations in the GBA gene, which gives instructions for creating the glucocerebrosidase enzyme, are the root cause of Gaucher disease.
Symptoms
- Hepatosplenomegaly, an overgrowth of the liver and spleen
- Anaemia with thrombocytopenia (low platelet count)
- fractures, skeletal anomalies, and pain in the bones
- Weakness and exhaustion
- Propensity to bleed and bruise easily
- Delayed development and puberty
- Occasionally, lung issues
Causes
A person with Gaucher disease inherits two copies of the defective GBA gene, one from each parent, as it is an autosomal recessive trait. The glucocerebrosidase enzyme’s activity is decreased by the mutations or is completely lacking, which causes glucocerebroside to accumulate.
Pathophysiology
Specifically designed cells called macrophages, which are in charge of clearing and recycling cellular debris, are where glucocerebroside buildup predominantly takes place. Normal cell activity is hampered by the accumulation of glucocerebroside, especially in the spleen, liver, and bone marrow. This results in the Gaucher disease’s typical symptoms and sequelae.
Diagnosis
Gaucher disease is diagnosed using a combination of clinical assessment, family history evaluation, and laboratory investigations. These examinations could include glucocerebrosidase enzyme activity measurements, genetic testing to detect GBA gene alterations, imaging studies to evaluate organ enlargement, and bone marrow testing.
Treatment
Enzyme replacement therapy (ERT) is the backbone of care for Gaucher disease. To aid in the breakdown of the accumulating glucocerebroside, synthetic forms of the defective enzyme glucocerebrosidase are intravenously supplied. ERT can enhance blood levels, lessen organ hypertrophy, and ease symptoms.
Prognosis
The Gaucher disease prognosis varies according to the particular subtype and individual circumstances. With the right care, many people with Gaucher disease can live reasonably normal lives with fewer symptoms and better quality of life. The condition is persistent and progressive, though, and severe cases can result in problems that might call for extra treatments.
Complications
Fractures and abnormalities of the bones can result from the buildup of glucocerebroside in the bone marrow, which can also lead to discomfort in the bones and increased brittleness.
Anaemia and low platelet counts brought on by Gaucher disease might increase the risk of bleeding and bruising.
Organ damage: There may be discomfort and a decline in organ function as a result of enlarged liver and spleen, which may call for medical intervention.
Lung complications: In a small percentage of patients, Gaucher disease can damage the lungs, which can impair lung function and cause breathing problems.
Ayurveda’s view of Gaucher Disease
Ayurveda is a traditional medical system that originated in India and largely emphasises holistic approaches to health and wellbeing, hence Gaucher Disease not often defined or treated in Ayurveda. But, Tridosha and Panchbhuta Theories, explaining the physiology and pathology can create a treatment plan and diet chart for this disease also. We are using this ancient wisdom for addressing Gaucher disease.
Nidana
Ayurveda claims that a variety of variables, including genetic predisposition (beejadosha), inadequate nutrition (mithyahara), lifestyle decisions (mithyachara), and environmental influences (karmaja and doshaja nimitta), contribute to Gaucher disease.
Poorvaroopana
Although the early indications and symptoms of Gaucher illness can differ, the following are recognised by Ayurveda as potential poorvaroopana:
Signs and symptoms of Vataja and Pittaja: Anaemia (pandutva), joint discomfort (sandhishoola), weariness (shrama), and weakness (dourbalya).
Splenomegaly (plihodara), hepatomegaly (yakritodara), and anaemia (pandutva) are raktaja lakshanas.
Samprapti
The following is how Ayurveda defines the samprapti (pathogenesis) of Gaucher disease:
Vata and Pitta dosha aggravation Vata and Pitta doshas can become worsened for a variety of reasons, including poor food, a sedentary lifestyle, and genetics.
Ama (toxic chemicals) build up: When Vata and Pitta are aggravated, it affects digestion and metabolism, which results in the creation of Ama, a toxic, sticky substance.
Blockage of Srotas: As the ama builds up, it obstructs the srotas, which include the blood vessels and tissues. This impairs cellular metabolism and function.
Rakta and Meda dhatus (blood and fat tissues) are out of equilibrium. As a result of the blocked channels, Rakta and Meda dhatus accumulate in various organs, most notably the spleen, liver, and bone marrow.
Symptoms showing up: Gaucher disease is characterised by a variety of signs and symptoms that are brought on by the accumulation of Rakta and Meda dhatus in the organs.
Lakshana
Plihodara (enlarged spleen): the development of fat deposits, which causes the spleen to expand.
Yakritodara (enlarged liver): The buildup of fatty substances can also cause the liver to expand.
Joint discomfort, also known as sandhishoola, is brought on by the involvement of the bone marrow.
Excessive exhaustion is referred to as shrama.
Dourbalya (weakness): generalised dwindling of strength.
Low quantities of red blood cells cause anaemia, or pandutva.
Prognosis
Not explained
Chikitsa
External
Abhyanga: Warm herbal oils can be used for regular self-massage to enhance blood flow, lessen discomfort, and nourish tissues.
Pinda Sweda: A method for applying localised massage using herbal boluses that have been soaked in heated medicinal oils. It can increase movement and help with pain relief.
Shirodhara: A medicinal procedure in which warm oil is continuously poured over the forehead. It strengthens the neurological system and encourages relaxation while lowering tension.
Internal
Ashwagandha, Amalaki, Guggulu, and Triphala are some examples of Ayurvedic medicines that may be suggested to improve overall health and strengthen the immune system. To choose the right herbs and dosages for a person’s unique needs, you should speak with a certified Ayurvedic practitioner.
Commonly used medicine
Varanadi Kashayam
Punarnavadi Kashayam
Kulakadi Kashayam
Dhanwantharam Gulika
Avipattikar churana
Ashwagandharista
Kanchar Guggulu
Amrita Guggulu
Rasasindhoor
Vrihatvata Chintamani Ras
Siddhamakaradhwaj
Medohar vati
Brand available
Dadur
Kottakkal Aryavaidyasala
Vaidyaratnam Oushadhasala
AVP
Baidyanath
Himalaya herbals
Home remedies
Herbal remedies: In order to promote general health and wellbeing, Ayurveda makes use of a variety of herbs and herbal preparations. Although there isn’t a specific herb for Gaucher illness, some herbs may be advantageous for the health of the liver and spleen. Kutki (Picrorhiza kurroa), guduchi (Tinospora cordifolia), and bhumyamalaki (Phyllanthus niruri) are a few instances.
Therapies for detoxification: Ayurveda uses Panchakarma and other detoxification techniques to get rid of toxins from the body. These treatments are tailored to each person’s unique constitution and state of health. Therapies like Abhyanga (oil massage), Swedana (herbal steam therapy), and Virechana (purgation therapy) may be used as part of panchakarma treatments..
Lifestyle Modifications: Maintain a healthy lifestyle by getting enough sleep each night, engaging in moderate exercise, and avoiding undue stress.
Stress management: Prolonged stress can aggravate symptoms and have a negative impact on general health. Take part in stress-relieving exercises like yoga, meditation, and deep breathing techniques, as well as relaxing physical activities like walking.
Diet
It’s crucial to have a balanced, healthy diet. Fresh produce, entire grains, lean proteins, and healthy fats should all be included. It is advised to stay away from fried and processed foods.
Yoga
Balasana (Child’s Pose): This relaxing stance for the back, shoulders, and neck helps to reduce tension. Additionally, it encourages relaxation, which is advantageous for people who are tired or have joint pain.
Legs-Up-The-Wall Pose, or Viparita Karani, entails reclining on your back with your legs extended against a wall. For those with Gaucher disease who can encounter symptoms related to blood flow and movement, it helps lessen fatigue and enhance blood circulation in the lower extremities.
Tadasana, also known as the Mountain Pose, is a standing posture that aims to ground and align the body. It promotes general body awareness and balance, strengthens the legs and core, and helps with posture.
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Writer:
Dr. Rajesh Nair, the co-founder and chief consultant of Ayurvedaforall.Com, is a graduate of prestigious Vaidyaratnam Ayurveda College (affiliated with the University of Calicut), Kerala, India. Additionally, he holds a Postgraduate Diploma in Yoga Therapy from Annamalai University.
Dr. Nair offers consultation at two busy clinics in and around Haripad, Alleppey, Kerala, the southern state famous worldwide for authentic ayurvedic treatment and physicians. While offering consultation on all aspects of ayurvedic treatments Dr. Nair has a special interest in Panchkarma, Yoga, and Massage.
Through Ayurvedaforall, Dr. Nair offers online consultation to patients worldwide and has served hundreds of patients over the last 20 years. In addition to his Ayurvedic practice, he is the chief editor of ayurveda-amai.org, the online portal of Ayurveda Medical Association of India, and the Secretary of the Kerala State Committee of Ayurveda Medical Association of India.
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