CD55 deficiency also known as CHAPLE syndrome is a rare genetic disorder of the immune system. It is primary intestinal syndrome (Waldmann’s disease). Immune system disorders cause abnormally low activity and over-activity of the immune system. Immune system is made up of special cells, tissues and organs that work together. The lymph lymphatic system is a major part of the immune system, lymphatic vessels are thin tubes, blood vessels throughout the body. In autoimmune disease the body attacks normal and healthy tissues. Genes are the building blocks of growth and development. The immune system is complex and highly developed. Lack of enzyme toxins build up inside the immune system killing them and devastating the immune system. Some of the common immune system disorders are- SCID (severe combined immunodeficiency) is present at birth. AIDS, HIV is a viral infection that destroys the white blood cells and weakens the immune system. Some diseases are caused by overactive immune systems and some conditions are Asthma, eczema, allergic rhinitis. In this disease we are going to study in detail about this disease.
CD55 / DAF deficiency / CHAPLE syndrome is hyper activation of angiopathic thrombosis and severe losing enteropathy. It usually manifests in childhood and is life threatening. Loss of CD55 is a key regulator and leads to predominantly gut condition. It is also known as WALDMANN’s Disease or primary intestinal lymphangiectasia which is characterized by dilated lymphatics and widening of villi which causes leakage of the lymph into the intestines lumen which leads to accumulation of fat and loss of lymphocytes and serum proteins. There are 2 types of primary IL and secondary IL, primary is abnormal lymphatic formation and is asymptomatic when genetic factors are linked with primary IL causes Hennekam syndrome which consists of facial abnormalities. Secondary IL is due to obstruction of the lymphatic drainage caused by infection, cardiac disease, gastrointestinal inflammation. In adults secondary IL occurs due to tuberculosis infection, systemic lupus erythematosus.
- Rare congenital disorder which is characterized by hypoproteinemia, peripheral edema, which results in loss of the lymphatic fluid into the intestine.
- It is due to protein losing enteropathy
- Secondary intestinal lymphangiectasia is more common, causes mesenteric and retroperitoneal nodal dissection
- Causes right heart failure, retroperitoneal fibrosis
PATHOPHYSIOLOGY OF CHAPLE SYNDROME
Chaple syndrome is characterized by autoimmune hemolysis and nocturnal hemoglobinuria. The illness is caused by the lymphatic vessels causing obstruction and subsequent enlargement, which can further cause illnesses such as constrictive pericarditis and pancreatitis.
CAUSES OF CHAPLE SYNDROME
- It is mainly caused by the mutation of the CD55 gene which further leads to loss of protein expression.
SIGNS/ SYMPTOMS OF CHAPLE SYNDROME
- Severe protein losing enteropathy which leads to hypoproteinemia
- Abdominal pain
- Loss of appetite
- Loss of lymphatic fluid into intestines
- Severe thrombotic vascular occlusion
DIAGNOSIS OF CHAPLE SYNDROME
- Clinical presentation
- Genetic testing
- Intestinal biopsy
- CT Scan
TREATMENT OF CHAPLE SYNDROME
- The treatment is based on the individual clinical condition but can treat patients on the basis of Eculizumab (a humanised anti C5 monoclonal antibody) beneficial for 18 months.
- High protein ailments
- Supplements of calcium and certain vitamins help to reduce the symptoms.
AYURVEDIC MANAGEMENT ON CHAPLE SYNDROME
Ayurveda is a science of medicine which describes genetics, there is variation in prakriti commonly due to variation of genetics. In ayurveda, heredity plays an important role towards the health and well being of the patient. Beeja (chromosomes), Beejabhaga (genes) and beejabhagavayava (part of the chromosomes). The beejabhaga is a component lying inside beeja and produces organs and suborgans, and vitiation in beejbhaga results in defective progeny due to difference in the DNA sequence. Prakriti is not only based upon shukra and shonita but also dependent upon kala, diet regimen and behaviour of mother and mahabhutas. When a woman useds aggravating factors the doshas gets vitiated and spreads and further reaches ovum and uterus which results in foetus born with defective organs as Asthang Sangraha mentioned that beej bhaga is responsible for the formation of organs.
IMPACT OF BEEJ DUSHTI
When segments of beejavayav get affected, in later stages there is deformity of particular organs that occur in later life.
MEASURES TO AVOID BEEJ DUSHTI
HERBS USEFUL FOR CHAPLE SYNDROME
- Ashwagandha – Ashwagandha (Withania somnifera) is widely used in the treatment of anxiety, depression and leucoderma. It works as an antioxidant, immunity booster and helps in strengthening muscles. Ashwagandha helps relieve tissue depletion, helps to decrease blood pressure and promotes cardiac health. Usually helps to fight against viruses and is widely used in respiratory tract infections.
- Haritaki – Haritaki (Terminalia chebula) is a rejuvenating herb which helps to improve skin complexion, promotes bowel movement and intelligence. Haritaki is used as a natural detoxifier and improves vision of the eyes. This herb balances vata and pitta doshas, helps to normalize bowel movements, and improves life expectancy. Haritaki has fat scraping quality and helps to improve digestion strength.
- Trikatu – It helps to improve the production of bile juices and bile salt secretion, used as anti inflammatory and expectorant. Used to improve the digestive fire and proper breakdown of the food, which further stimulates the digestive juices and increases appetite. Trikatu enhances body warmth, decreases body pain and restlessness. Helps to manage asthma and strengthen respiratory organs, lower down the bad cholesterol and triglycerides, and improves blood channels.
HERBAL REMEDIES BY PLANET AYURVEDA FOR CHAPLE SYNDROME
Planet Ayurveda is a famous herbal pharmaceutical company that deals in the production of herbal products and remedies for treating many types of ailments without causing any side effects. The products made are 100% pure which are extracted from plant products without any synthetic material. The formulations prepared are under strict guidance of the M.D experts, which provide great relief to patients without causing any side effects. For CHAPLE SYNDROME, Planet ayurveda provides various formulations described below.
- ASHWAGANDHA CAPSULES
- PUNARNAVA MANDUR
- IMMUNE BOOSTER
- WHEAT GRASS POWDER
- PITTA BALANCE
- SWARAN VASANT MALTI RAS
1. Ashwagandha Capsules
Ashwagandha capsules are single herbal capsules formulated by planet ayurveda using standardized extract of Ashwagandha (Withania somnifera). These capsules help to treat nervous breakdown, chronic fatigue syndrome. The use of these capsules helps to bring back strength of muscles and calm down the system. Ashwagandha capsules help to provide stamina and muscle power and are used in the treatment of insomnia and diabetic neuropathy.
Dosage: 2 capsules twice daily with plain water after meals.
2. Punarnava Mandur
Punarnava Mandur is herbal tablets formulations provided by planet ayurveda using ingredients such as Punarnava (Boerhaavia diffusa), Shunthi (Zingiber officinale), Haridra (Curcuma longa), Chitrak mool (Plumbago zeylanica) and many more. It is widely used in the treatment of splenomegaly, piles and fever. Punarnava mandur is helpful in liver disease such as enlargement of liver and jaundice. It is an anti-inflammatory drug used in the treatment of dermatitis and helminthiasis.
Dosage: 2 tablets twice daily with lukewarm water.
3. Immune Booster
Immune Booster are poly herbal capsules formulated by planet ayurveda using ingredients such as Grape seed (Vitis vinifera), Go- Piyush (Bovine colostrums), Bhumi amla (Phyllanthus niruri), Amalaki (Emblica officinalis). These capsules are useful in patients who are suffering from recurrent sinus, throat infections and in urinary tract disease. Immune booster has Grape seed which is highly rich in vitamin c so helps to boost up the immune system.
Dosage: 1 capsule twice daily with plain water after meals.
4. Wheat Grass Powder
Wheat grass powder is a single herbal churna formulated by planet Ayurveda using a single extract of Wheat grass (Triticum aestivum). This powder helps to maintain the digestive health and balances the tridoshas of the body. Helps to increase blood and removes toxins from the body and is used in reducing and gaining weight. This powder helps to lower down the pressure and is used in heart disorders.
Dosage: 1 tsp twice daily with plain water.
5. Pitta Balance
Pitta balance are poly herbal capsules formulated by planet ayurveda using ingredients such as Jahar Mohra Pishti (Natural calcium compound), Akik Pishti (Natural calcium compound), Giloy satva (Tinospora cordifolia) and many more. It helps to provide cooling effects and has natural calcium which helps to restore the pitta doshas quickly. Pitta balance helps in leg cramps, leg syndrome, best for acidity and in bleeding piles. It restores the healthy skin and clears the complexion as it is a blood cleanser.
Dosage: 1 capsule twice daily with plain water after meals.
6. Swarn Vasant Malti Ras
Swarn Vasant Malti Ras is a classical ayurvedic products formulated by planet ayurveda using ingredients such as Swarna bhasma (Gold calx), Shuddha parad (Mercury), Kantkari (Solanum xanthocarpum), Kutki (Picrorhiza kurroa) and many more. It helps to treat chronic fever, asthma and tuberculosis. This tablet is useful in oligospermia, spermatorrhoea and in infertility.
Dosage: 1 tablet twice a day.
CD55 deficiency also known as CHAPLE syndrome is a rare genetic disorder of the immune system. It is primary intestinal syndrome (Waldmann’s disease). Primary intestinal lymphangiectasia which is characterised by dilated lymphatics and widening of villi which causes leakage of the lymph into the intestines lumen which leads to accumulation of fat and loss of lymphocytes and serum proteins. In ayurveda hereditary plays an important role towards the health and well being of the patient. Beeja (chromosomes), Beejabhaga (genes) and beejabhagavayava (part of the chromosomes). As discussed earlier in the topic about herbal remedies which will provide great relief to patients without causing any side effects.