Autoimmune Disorders in Children: Symptoms and Testing

Autoimmunity

Hello Doctor, in October 2019, my son (7 years old) was infected with influenza type B.
Later, he developed some red spots on his hands, and when we went to the hospital for a blood test, the emergency doctor said everything was normal, with a platelet count of 180,000.
There were some abnormal results: blood glucose (197) and APTT (38.5 seconds).
The doctor mentioned that these values were normal because the child was still feverish at the time.

In November 2019, he developed cellulitis on his left thigh and was treated with antibiotics.
We also noticed many red spots on his forehead, and later found similar spots on his neck in a V-shape, which looked like petechiae.
These spots disappeared after 3-4 days and were not seen again.
However, starting in February 2020, we observed that after sun exposure, red rashes appeared on his face, arms, and near his neck, sometimes accompanied by red petechiae.

During this time, my niece tested positive for antiphospholipid antibodies and antinuclear antibodies, so I took my child to a laboratory for testing (during the COVID-19 pandemic in March 2020).
The test results showed: antinuclear antibodies (1:40, negative), fasting blood glucose (80), hemoglobin A1c (5.2), APTT (32.5 seconds), PT (10.7 seconds), and platelet count (360,000).
The complete blood count was normal, and after applying sunscreen, the rashes and red spots were rarely seen.
After September 2020, they were no longer observed, so we didn't think much of it.

However, in February 2021, we noticed some rashes and red spots around his neck and face again, and he frequently had bruises on his knees.
Could my child have an autoimmune disease (such as lupus) or a coagulation disorder (like hemophilia or a similar condition)? Is this a case of photosensitivity? What tests should I take my child for? I apologize for the lengthy question, and thank you, Doctor!

Kelvin, 40~49 year old female. Ask Date: 2021/03/04

Dr. Gao Jiankai reply Internal Medicine

Hello, thank you for your message.
It is indeed possible for children to develop skin rashes and abnormal blood test results due to viral infections, and if these symptoms resolve quickly or the test results return to normal, there is usually no need for concern.
However, blood test results reflect the body's condition at that specific time.
If there are persistent unexplained symptoms or bruising, it is advisable to continue follow-up visits for further evaluation.
Children may not always articulate their discomfort clearly, so extended monitoring may be necessary.
Even in the absence of symptoms, it is reasonable to recheck abnormal test results after some time, typically three to six months later, for peace of mind.
The hereditary risk of lupus is not very high, and the diagnosis still relies on multiple clinical assessments and blood test results.
Based on the information you have provided, it seems that your child does not yet meet the diagnostic criteria for lupus.
If you are concerned about hemophilia, such coagulation issues should be discussed with a hematologist.
The definition of photosensitivity is somewhat vague and would require a detailed patient history to clarify after examining the patient.
Regarding the tests, I recommend taking your child to see a pediatric rheumatologist.
The rheumatologic symptoms in children, including bruising, may also be related to hematological issues, and pediatric rheumatologists may have more experience in this area.
They will also have their own insights regarding the tests.
The Allergy, Immunology, and Rheumatology Department of Changhua Hospital is here to assist you.

Reply Date: 2021/03/04

More Info

Understanding autoimmune disorders in children can be quite complex, especially when symptoms are varied and can overlap with other conditions. Based on the information provided, your son has experienced a series of symptoms that could potentially indicate an autoimmune disorder, but it is essential to approach this systematically.

Symptoms and Their Implications
1. Skin Rashes and Red Spots: The appearance of red spots and rashes, particularly after sun exposure, can be indicative of several conditions, including autoimmune disorders like lupus erythematosus, which is known for photosensitivity. However, transient rashes that resolve quickly may not necessarily point to a chronic condition.

2. Bruising and Petechiae: The frequent bruising and the appearance of petechiae (small red or purple spots caused by bleeding under the skin) could suggest a bleeding disorder or a problem with platelet function. While your son’s platelet count appears normal, the context of bruising should be evaluated further.

3. Previous Infections: The history of infections, such as the flu and cellulitis, can sometimes trigger autoimmune responses, particularly in genetically predisposed individuals.
4. Family History: The mention of your niece testing positive for antiphospholipid antibodies raises a flag for potential autoimmune conditions within the family. Autoimmune diseases can have a genetic component, and the presence of such antibodies in family members may increase the risk for your son.

Diagnostic Testing
Given the symptoms and family history, it would be prudent to pursue further evaluation. Here are some recommended tests and evaluations:
1. Autoimmune Panel: This should include tests for antinuclear antibodies (ANA), anti-double-stranded DNA, anti-Smith antibodies, and antiphospholipid antibodies. These tests can help identify lupus or other autoimmune conditions.

2. Coagulation Studies: Since there are concerns about bruising, tests such as PT (Prothrombin Time), APTT (Activated Partial Thromboplastin Time), and platelet function tests should be performed to rule out bleeding disorders.

3. Skin Biopsy: If rashes persist, a dermatologist may recommend a skin biopsy to determine the underlying cause of the skin lesions.

4. Referral to a Pediatric Rheumatologist: Given the complexity of autoimmune disorders, a pediatric rheumatologist can provide specialized insight and management options.

5. Follow-Up Blood Tests: Regular follow-up blood tests may be necessary to monitor any changes in blood counts or the emergence of new antibodies.

Conclusion
While the symptoms your son is experiencing could suggest an autoimmune disorder, they could also be due to other non-autoimmune conditions. It is crucial to work closely with healthcare providers to conduct the appropriate tests and evaluations. Early diagnosis and management can significantly improve outcomes in children with autoimmune conditions.
If your son continues to experience symptoms or if new symptoms arise, do not hesitate to seek further medical advice. Regular follow-ups and monitoring are key in managing potential autoimmune disorders effectively.

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