Chandigarh: Rare genetic disorder on rise in country, 8 such patients undergoing treatment at PGIhttps://indianexpress.com/article/cities/chandigarh/chandigarh-rare-genetic-disorder-on-rise-in-country-8-such-patients-undergoing-treatment-at-pgi-5623827/

Chandigarh: Rare genetic disorder on rise in country, 8 such patients undergoing treatment at PGI

According to the data provided by PGI, there are around about 170 patients in the world who have been diagnosed with DADA2 disease, of which, 17 cases are from India. Out of these 17 patients, 8 are undergoing treatment at PGI.

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Dr Aman Sharma told Newsline that, from 2017 till date, three cases have been reported from Punjab. Among these, one died in December 2018 at PGI. Other five patients belong to other states of the country. (Source: File)

From 2017 till today, one out of nine patients have died from a newly discovered disease, Deficiency of Adenosine Deaminase 2 (DADA2), as per data shared by Post Graduate Institute of Medical Education and Research.

“DADA 2 is a rare genetic disorder that involves inflammation of body’s tissues, especially the tissues that make up body vessels. Inflammation is body’s natural response to injury or infection, but continuous inflammation, which are caused by DADA2, can damage vital organs and systems. Damage to these areas can result in disabilities or even death,’’said, Dr Aman Sharma, Rheumatologist at PGI.

According to the data provided by PGI, there are around about 170 patients in the world who have been diagnosed with DADA2 disease, of which, 17 cases are from India. Out of these 17 patients, 8 are undergoing treatment at PGI.

Dr Sharma told Newsline that, from 2017 till date, three cases have been reported from Punjab. Among these, one died in December 2018 at PGI. Other five patients belong to other states of the country.

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He said, ‘’This is a new disease. Researchers in India as well as abroad are trying to find out its root cause. The first time DADA2 was described and explained in 2014. At PGI, the first such patient was diagnosed in 2017 from Punjab. He is currently undergoing treatment at PGI and is quite stable now,’’

He further added that there is no cure for DADA2 disease. However, It can be restricted, but the cost of treatment is very expensive. One who has DADA2 disease need life long treatment and the average expenses per year is about Rs 2 lakh, which is unaffordable for common man.

‘’Patient with DADA2 can suffer a wide variety of symptoms, including childhood-onset stroke, repeated fever, tendril- like skin discolorations, enlarged liver and spleen, recurrent stroke-like episodes, immune system abnormalities and inflammation of blood vessels (vasculitis). Symptoms may also include headache, fatigue, general aches and pains, numbness and weight loss,’’ He added.

Dr Sharma said that DADA 2 is caused by change in CECIR1 gene, which helps create the protein, Adenosine Deaminase 2. This protein helps support the lining of blood vessel walls. He said, ‘’ DADA2 may be diagnosed any time in early childhood or adulthood. For some patients, stroke episode begin early in childhood and may effect areas deep in the brain.’’

‘’The only way to positively diagnose DADA2 is through genetic testing.” He added that if the patient is diagnosed at early stage, it helps in preventing further spread of the disease. Many people in India are unaware of symptoms of the disease, thereby worsening the situation. Doctors all over the world are trying to find out the permanent solution to curb this disease.