Alagille Syndrome: Treatment, Cost and Side Effects
Last Updated: Nov 20, 2024
What is the Alagille Syndrome?
Alagille syndrome is a disorder occurs due dominant autosomal condition of a gene, can affect he functioning of some important organs like heart, liver, kidney and also some important system of the body. This disorder is generally found at early childhood or infancy. it is a severe case and varies from persons to persons, and in some cases transplantation also takes place. This disease also includes relative effects with cardiac disease, typical expression of face and skeletal and eye findings.
The diagnosis of this treatment is done by biopsy specimen, liver’s microscopic examination , heart and chest examination by sthetoscope, ultrasonography of upper and lower abdomen, eye sight test, and x-ray report of some affected parts. In some cases some genetic counselling tests are also required. Symptoms of this syndrome are characterised by big forehead, pointed chin, sunken eye. Peoples affected by this syndrome might have similar face structure, and improper growth ratio.
There is no such known cure found till date for the syndrome. Only further effects can be measured by proper diagnosis and medication. In some cases surgeries like angioplasty and transplantations may also required. In most of the cases diagnois aims at improving the problems of heart and redution of the effects of impaired liver, kidney, spleen. In some cases ratinal surgery may also take place.
How is the Alagille Syndrome treatment done?
The treatment of alagille syndrome mainly includes medication and therapies, that increases the production of bile duct secretion i.e. bile. Major effects of this syndrome is treated with some surgeries and treatments which includes angioplasty, impaired hepatic Treatment of kidney problems, and may be heart treatments too. A patient suffering from this condition will face various problems from childhood. Infants also face several problems that includes jaundice after birth, heart abnormalities, defective facial structures and eyes.
There are many peoples in the world who is living a normal life with alagille syndrome and may be a carrier of the gene which can further get active in his/her next generations.
the first part of the treatment starts with medications and healthy diet, then for further problems ultrasonography is done to the patient, if required then some surgical process might take place. Though the treatment of alagille syndrome does not cures the problem permanently but can prevent further increase of the problems.
In case of children, they may suffer from various problems like attachment disorder, cerebral palsy, short height, sleep apnea, hyperactivity disorder, acute stress acute disorder, dermatitis, vomiting tendency, stressed and frightened condition, personality disorder and attention deficit disorder.
Who is eligible for the treatment? (When is the treatment done?)
Alagille syndrome is a genetic disorder that results in various conditions and symptoms in our body, specially the liver. Number of bile duct in persons who are victim of this disorder are very less than any other normal persons. The person who are eligible for the treatment must be the carrier of that dominant character in his/her Gene that is responsible for the syndrome. As this is a genetic disorder, a couple must always go through some genetic tests before taking child, as because research and studies says that a child will always have that Gene as a dominant one if any one of the parents is a victim of alagille syndrome . Peoples who are suffering from liver problems, kidney problems, heart disease, mal absorption , pruritis must go for some tests like x-ray, ultrasonography to confirm the disease and should go through respective diagnosis and intensive care to avoid further problems.
Who is not eligible for the treatment?
People who don’t have this mutation in their gene should not go for this treatment. In case the biopsy report of the person does not show any such positive result for the syndrome then this treatment is not applicable. In case of couple expecting child, does not have this mutation gene dominant then this treatment is not applicable.
Are there any side effects?
Side effects of alagille syndrome includes symptoms related to liver problems, such as jaundice, pruritus, xanthoma, malabsorption, kidney problems mainly related to kidney damage, abnormalities related to skeletal system, abnormal expression of face and eyes, heart disease, murmurs, posterior embryotoxon problems. Treatment of this syndrome does not have any permanent solution of any of the problems maintioned above.
What are the post-treatment guidelines?
People who are the victims of alagille syndrome will be helpful if they follow some guidelines throughout the treatment period and also after treatment . The patient must follow diet rich in vitamin. In case of those who undergoes surgical conditions might be helpful if follows some post surgery guidlines, which includes, vitamin and nutritious diet, enough intake of water to flash off all the unwanted waste out of the body. Though the treatment does not have any permanent curable solutions, but maintaning a good healthy environmental condition and healthy diet may help the person live in a good condition.
How long does it take to recover?
The treatment of alagille syndrome is not curable, so the time need for a person to get quick recovery depends on the intensity of the affected parts due to the syndrome. Therefore, the time needed for the recovery might not be the same for everybody. This treatment process in some peoples may start from a very early age, i.e. from the childhood and may continue for much longer time.
What is the price of the treatment in India?
The cost of the treatment starts with an amount within Rs. 250 – Rs 750, per diagnosis. Then the price may increase with the increase of the requirements of the treatments. The treatment also includes price of some tests and cost of surgeries, which can further rise up to Rs. 50,000 – Rs. 75,000.
Are the results of the treatment permanent?
The result of treatment is permanent in some rare cases and not permanent in most of the cases. As the syndrome occurs due to gene mutation, so it can never be cured by medications and surgeries. In some cases transplantations may takes place for recovery, but very few gets successful results.
What are the alternatives to the treatment?
The treatment mainly deals with medications and surgery. Alternatives of this treatment includes intake of vitamin rich diets, nutrition diet, healthy meal, proper behaviour treatment, good and sound sleep. Though the treatment can give partially successful result, but the only way to treat the condition depends on medication and proper process of treatment.
References
- Fischetto R, Palmieri VV, Tripaldi ME, Gaeta A, Michelucci A, Delvecchio M, Francavilla R, Giordano P. Alagille Syndrome: A Novel Mutation in JAG1 Gene. Frontiers in pediatrics. 2019;7:199. [Cited 15 July 2019]. Available from:
- Alagille Syndrome- NIH, National Institute of Diabetes and Digestive and Kidney Diseases [Internet]. niddk.nih.gov 2019. [Cited 15 July 2019]. Available from:
- Alagille syndrome- Genetics Home Reference, NIH, U.S. National Library of Medicine [Internet]. ghr.nlm.nih.gov 2019. [Cited 15 July 2019]. Available from:
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