Autoimmune Disorders and Blood Issues in Children

Autoimmunity / Coagulation / Rash

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

In November 2019, he developed cellulitis in his left thigh and was treated with antibiotics.
During this time, we also noticed many red spots on his forehead, and later on his neck in the V-neck area, which resembled petechiae.
These spots disappeared after 3-4 days and did not reappear.
However, starting in February 2020, we observed that after sun exposure, he would develop rashes on his face, arms, and near his neck, sometimes accompanied by red bruises.

Since my niece tested positive for antiphospholipid antibodies and antinuclear antibodies around this time, I took my child to a laboratory for testing in March 2020 (during the COVID-19 pandemic).
The 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 the rashes and red spots were rarely seen after applying sunscreen.
By September 2020, they had not reappeared, so we did not think much of it.

However, in February 2021, we noticed some rashes and red spots again around his neck and face, and he has been frequently bruising on his knees.
Could my child have an autoimmune disease (such as lupus) or a coagulation issue (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: 2021/03/05

Dr. Xie Wanghu reply Pediatrics

Hello, in the case of a viral infection in children, a platelet count of over 100,000 is acceptable.
APTT is 23.9-35.5 seconds and PT is 9.4-12.5 seconds, both of which are within the normal range.
The diagnostic criteria for hemophilia include: 1.
Normal PT, 2.
Prolonged APTT, 3.
Factor VIII or IX activity less than 30%, and 4.
Normal bleeding time (BT).
The provided information lacks evidence for points 3 and 4.
Autoimmune diseases have a broad spectrum; if parents have concerns, it is advisable to consult a pediatric immunologist.
Thank you.

Reply Date: 2021/03/05

More Info

Understanding autoimmune disorders and blood issues 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 several episodes of skin rashes, bruising, and other symptoms following a bout of influenza. While it is understandable to be concerned about the possibility of autoimmune diseases or bleeding disorders, it is essential to approach this systematically.

Firstly, the symptoms you've described, such as the appearance of red spots and bruising, can indeed be associated with autoimmune conditions like Systemic Lupus Erythematosus (SLE) or Immune Thrombocytopenic Purpura (ITP). However, the presence of these symptoms alone does not confirm a diagnosis. In children, autoimmune diseases can manifest in various ways, and the clinical picture can change over time.
Your son's blood tests have shown fluctuations in blood parameters, including platelet counts and APTT (Activated Partial Thromboplastin Time). A normal platelet count (like the 360,000 you mentioned) is reassuring, as low platelet counts are often associated with conditions like ITP. In ITP, the immune system mistakenly attacks platelets, leading to easy bruising and bleeding. The fact that your son has had normal platelet counts at times suggests that he may not have a chronic condition like ITP, but rather a transient issue that could be related to infections or other environmental factors.

The presence of red spots and rashes, especially after sun exposure, raises the possibility of photosensitivity, which is a characteristic of certain autoimmune conditions, including lupus. However, the negative ANA (Antinuclear Antibody) test at 1:40 dilution is a good sign, as a positive ANA is often seen in autoimmune diseases. It is important to note that a negative ANA does not completely rule out autoimmune diseases, but it does make them less likely.

Given your concerns about potential autoimmune disorders and bleeding issues, it would be prudent to consult with a pediatric rheumatologist or a hematologist. They can provide a more comprehensive evaluation, including a detailed history, physical examination, and possibly further testing. Tests that may be considered include:
1. Repeat ANA and other specific autoantibody tests: This can help rule out or confirm autoimmune conditions.

2. Coagulation studies: To evaluate bleeding disorders more thoroughly, including PT (Prothrombin Time) and a more detailed assessment of clotting factors.

3. Skin biopsy: If rashes persist, a biopsy can provide insight into the underlying cause.

4. Complete blood count (CBC): Regular monitoring of blood counts can help track any changes over time.

In terms of management, if your son is experiencing photosensitivity, using broad-spectrum sunscreen and protective clothing when outdoors can help mitigate skin reactions. Keeping a symptom diary may also help identify triggers or patterns related to his symptoms.

Lastly, regarding the hereditary aspect of autoimmune diseases, while some conditions have a genetic component, many do not. The risk of passing on autoimmune diseases to offspring can vary widely depending on the specific condition and family history. It would be beneficial to discuss this with a genetic counselor if you have concerns about future children.

In summary, while your son's symptoms warrant further investigation, the current test results do not strongly indicate a chronic autoimmune disorder or a bleeding disorder. A thorough evaluation by specialists will provide clarity and guide appropriate management strategies.

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