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My teenage daughter (16yo) has been diagnosed with NF1, both

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Posted on Mon, 24 Dec 2018
Question: My teenage daughter (16yo) has been diagnosed with NF1, both clinically and by genetic testing at Mayo Clinic. This all started just in August of this year. She has been experiencing abdominal pain on a regular basis for the past year or so. MRI scans were just ordered and I was given the results today. There are zero tumors showing at this point, which is fantastic. However, she has an enlarged spleen and additional blood tests have been ordered this week. An enlarged spleen could explain abdominal pain, but the cause of the enlarged spleen is the question. None of the possibilities seem necessarily to be positive. Is it possible that she could have NF1 AND an underlying disease such as leukemia?
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Answered by Dr. Vaishalee Punj (1 hour later)
Brief Answer:
Enlarged spleen could be many causes

Detailed Answer:
Hello and welcome to Ask A Doctor service.

I have reviewed your query and here is my advice.

Splenomegaly and resultant abdominal pain is more commonly seen in chronic infections. I am sure that doctors have sent the blood work to find any such causes.

Leukemia is a remote possibility in any patient. I would not worry about leukemia if white blood cell (WBC) count is in normal limits. I am sure WBC count has already been done and no such alarm was raised.

The causes of splenomegaly can be:
- infections (hepatitis, leptospirosis, malaria, gastro-intestinal infections etc)
- Blood related (RBC destruction, increased platelet count, increased RBC count)
- Rheumatologic conditions (SLE, etc)
- Any lump inside the spleen
- Malignancy (leukemia, lymphoma, etc)

Until a cause is found, we as parents can do our part. Give her cleaner food and water (with low TDS). Most abdominal pains clear up with clean food and water. Clean environment and stress free life. I will not worry about NF1 also as its common to show up on genetic testing. Many genetically diagnosed patients may not develop any symptoms.

Hope this helps. Let me know if I can assist you further.
Dr Vaishalee
Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar
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Answered by
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Dr. Vaishalee Punj

General & Family Physician

Practicing since :2003

Answered : 2543 Questions

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My teenage daughter (16yo) has been diagnosed with NF1, both

Brief Answer: Enlarged spleen could be many causes Detailed Answer: Hello and welcome to Ask A Doctor service. I have reviewed your query and here is my advice. Splenomegaly and resultant abdominal pain is more commonly seen in chronic infections. I am sure that doctors have sent the blood work to find any such causes. Leukemia is a remote possibility in any patient. I would not worry about leukemia if white blood cell (WBC) count is in normal limits. I am sure WBC count has already been done and no such alarm was raised. The causes of splenomegaly can be: - infections (hepatitis, leptospirosis, malaria, gastro-intestinal infections etc) - Blood related (RBC destruction, increased platelet count, increased RBC count) - Rheumatologic conditions (SLE, etc) - Any lump inside the spleen - Malignancy (leukemia, lymphoma, etc) Until a cause is found, we as parents can do our part. Give her cleaner food and water (with low TDS). Most abdominal pains clear up with clean food and water. Clean environment and stress free life. I will not worry about NF1 also as its common to show up on genetic testing. Many genetically diagnosed patients may not develop any symptoms. Hope this helps. Let me know if I can assist you further. Dr Vaishalee