Symptoms, Safety, and Warning Signs

Living with RAS-associated autoimmune leukoproliferative disease (RALD) involves monitoring for symptoms that can vary significantly from one child to the next. The overactive immune cells can cause physical changes and blood count shifts that require regular attention and careful safety planning ^[1][2].

Common Physical Symptoms

The hallmark physical signs of RALD are caused by the buildup of overactive white blood cells in the body’s filtering organs. In a published review of 27 reported RALD cases, the following features were commonly observed ^[1]:

• Splenomegaly (Enlarged Spleen): Found in nearly 96% of the 27 reviewed cases ^[1]. The spleen works to filter blood, but in RALD, it can become crowded with overactive cells, causing it to grow significantly. Your child’s abdomen may feel firm on the left side ^[3][4].
• Hepatomegaly (Enlarged Liver): Often occurring alongside the enlarged spleen (known as hepatosplenomegaly), an enlarged liver can contribute to an expanding waistline ^[5][6].
• Lymphadenopathy (Swollen Lymph Nodes): You may be able to feel firm, painless lumps under the skin, particularly in the neck, armpits, or groin ^[7][5].

Spleen Protection and Safety

If your child has an enlarged spleen, it is more fragile and prone to rupture.

• Do not press on the abdomen at home to “check” the size of the spleen; leave this to your medical team.
• Avoid contact and collision sports (like football, hockey, or wrestling) and rough play until cleared by a doctor.
• Seek immediate emergency care if your child experiences sudden left-upper-quadrant or generalized abdominal pain, left shoulder pain, sudden severe paleness, dizziness, or fainting, especially after a fall or trauma to the stomach.

Blood Count Changes

Your care team will monitor for three main laboratory findings:

1. Persistent Monocytosis: An abnormally high count of monocytes (a type of white blood cell) that remains elevated for months. This was seen in 18 of 24 cases in the published review ^[1].
2. Autoimmune Cytopenias: This happens when the immune system mistakenly attacks its own healthy blood cells. It can lead to anemia (low red blood cells, causing paleness and fatigue) or thrombocytopenia (low platelets, causing easy bruising or small red spots called petechiae) ^[1][5]. When both occur together, it is known as Evans Syndrome ^[8].
3. Hypergammaglobulinemia: Many children produce too many antibodies (immunoglobulins), which is a sign that the immune system is in overdrive ^[5].

While RALD is an “overactive” immune disorder, some patients may actually have exhausted T cells and suffer from recurrent respiratory infections ^[9][10]. This requires individual assessment for infection risk.

Creating a Fever and Emergency Action Plan

Children with RALD are often taking immunosuppressive medications (like sirolimus, MMF, or steroids), making it harder for their bodies to fight infections. You cannot reliably distinguish a routine viral fever from a severe RALD complication at home.

Work with your doctor to create a written, individualized Home Action Plan. This plan should include:

• The exact temperature threshold that requires a call to the clinic (e.g., 100.4°F or 101°F).
• Who to call during the day vs. after hours.
• When to go directly to the Emergency Department.
• Instructions NOT to give fever-reducing medications (like Tylenol or Advil) before speaking with the medical team.
• A clear statement of your child’s current immunosuppressants and whether they still have their spleen.

Seek immediate emergency medical evaluation if your child experiences:

• Respiratory Compromise: Difficulty breathing, rapid breathing, or blue-tinted lips/fingernails ^[11].
• Signs of Shock or Severe Deterioration: Extreme lethargy, confusion, a “toxic” appearance, pale/clammy skin, or a sudden drop in blood pressure ^[11].
• Fever in a child without a spleen: If your child has had their spleen removed (splenectomy), any fever is a life-threatening medical emergency due to the risk of overwhelming post-splenectomy sepsis ^[6].