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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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Suggest Treatment For Eosinophilic Esophagitis, Adrenal Insufficiency And Dysautonomia

My 15 yr old son is very medically complex with a multitude of rare diagnoses including Eosinophilic Esophagitis, Adrenal Insufficiency and severe Dysmotility/Chronic Intestinal Pseudo Obstruction. About a year ago he was diagnosed with a rare type of Dysautonomia call Autoimmune Autonomic Ganglionpathy, POTS and small fiber neuropathy. He is seronegative for the ACHR antibody but positive for paraneoplastic and striated muscle antibodies. He is very symptomatic. He was also found to have a 6cm benign bone tumor growing on his upper arm. He is HLA B27 positive as well. We tried treating his Autoimmune disease aggressively with high dose steroid infusions and IVIG but he did not respond and could not tolerate them either, so his doctors do not feel Rituxan or Plasmapheresis will work for him now. Soon he will go in for a PET scan to see if he does have any tumors they have not found yet causing these antibodies to produce. What could be the reasons he is producing the striated muscle antibody and what will happen if left untreated? Will these antibodies start to attack his organs?? He is progressively getting worse and his quality of life is very poor.
Wed, 15 Apr 2020
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General Surgeon 's  Response
Hello,

* The rare disorder of auto immune disturbances with antibodies against striated muscles is very notorious in prognosis and danger outcomes on a long period of time.

* As the steroid therapy has not been tolerated, its scope with immunoglobulins is out of concern to discuss here.

However, there are recent molecules available in terms of monoclonal antibodies and cytokine mediators which help to halt the antibody response of the body to some extent.

* Kindly discuss the scope of newer advances in the condition of your son.

* If left untreated , it goes ultimately in multiple organ failure with

- deficiency of multiple nutrients

- kidney involvement with acute tubular necrosis

- adrenal crisis with lack of adrenal hormones

- cachexia and weight loss

- low morals and depression issues

- others.

Hope I have answered your query. Let me know if I can assist you further.

Take care

Regards,
Dr. Bhagyesh V. Patel
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Suggest Treatment For Eosinophilic Esophagitis, Adrenal Insufficiency And Dysautonomia

Hello, * The rare disorder of auto immune disturbances with antibodies against striated muscles is very notorious in prognosis and danger outcomes on a long period of time. * As the steroid therapy has not been tolerated, its scope with immunoglobulins is out of concern to discuss here. However, there are recent molecules available in terms of monoclonal antibodies and cytokine mediators which help to halt the antibody response of the body to some extent. * Kindly discuss the scope of newer advances in the condition of your son. * If left untreated , it goes ultimately in multiple organ failure with - deficiency of multiple nutrients - kidney involvement with acute tubular necrosis - adrenal crisis with lack of adrenal hormones - cachexia and weight loss - low morals and depression issues - others. Hope I have answered your query. Let me know if I can assist you further. Take care Regards, Dr. Bhagyesh V. Patel