[38F] With chronic infections, hepatosplenomegaly, and gastrointestinal issues
Patient Description
A 38-year-old female presents with a history of high white blood cell (WBC) count and neutrophils for over 10 years, intermittent lymphocytosis, hepatosplenomegaly, and frequent viral, bacterial, and fungal infections. She also reports a consistently high C-reactive protein (CRP) level. The patient has been diagnosed with chronic Epstein-Barr infection and fatty liver. She experiences joint pain primarily in her knees, with occasional pain in her hips and shoulders, which has been ongoing for 25 years. The knee pain is described as a sharp ache with frequent snapping and popping out of place, rated as an 8 out of 10 in severity. She also suffers from migraines that start in the neck and move up the head, causing sensitivity to sound and light, severe nausea, and a need for a fan due to heat sensitivity. These migraines have been present since childhood and are rated as 8-9 out of 10 in severity. The patient has a history of gastrointestinal issues, including gastroparesis, diarrhea, and constipation. The diarrhea is described as bright yellow, foul-smelling, and similar to liquid peanut butter, occurring 6-8 times a day for multiple days, followed by periods of constipation. Stool tests have shown pseudomonas and yeast infections, and a colonoscopy revealed lymphocyte aggregates in the colon. An EGD was negative except for a hiatal hernia. She also had a severe SIBO infection that took over a year to resolve. Additional symptoms include postural orthostatic tachycardia syndrome (POTS), possible mast cell issues, constant nausea, extreme fatigue, and long COVID. The patient has tested positive for various infections in the past 5 years, including Epstein-Barr, pseudomonas, COVID-19 (four times), candidiasis, parvovirus B19, enteropathogenic E. coli, and has had chronic urinary tract, respiratory tract, and sinus infections.
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Arora's Assessment
What might be happening
Based on the symptoms and history you've provided, here are some possible explanations for your condition:
Primary Immunodeficiency
- Rationale: Your history of frequent infections (viral, bacterial, and fungal), high white blood cell (WBC) counts, and high C-reactive protein (CRP) levels suggest an underlying issue with your immune system. Primary immunodeficiency disorders can lead to recurrent infections and other immune-related issues.
- Typical Treatments/Testing: Blood tests to measure immunoglobulin levels, genetic testing, and possibly a bone marrow biopsy. Treatment may include immunoglobulin replacement therapy and antibiotics to prevent infections.
Chronic Epstein-Barr Virus (EBV) Infection
- Rationale: Chronic EBV can cause persistent fatigue, hepatosplenomegaly (enlarged liver and spleen), and a weakened immune system, making you more susceptible to other infections.
- Typical Treatments/Testing: Blood tests to detect EBV DNA, liver function tests, and imaging studies. Treatment focuses on managing symptoms and preventing complications.
Mast Cell Activation Syndrome (MCAS)
- Rationale: Your symptoms of joint pain, migraines, gastrointestinal issues, and possible mast cell issues could be related to MCAS, where mast cells release too many chemicals, causing a range of symptoms.
- Typical Treatments/Testing: Blood and urine tests to measure mast cell mediators, and possibly a skin biopsy. Treatment may include antihistamines, mast cell stabilizers, and dietary changes.
Postural Orthostatic Tachycardia Syndrome (POTS)
- Rationale: Your symptoms of lightheadedness, extreme fatigue, and gastrointestinal issues could be related to POTS, a condition that affects blood flow and can cause a range of symptoms.
- Typical Treatments/Testing: Tilt table test, heart rate and blood pressure monitoring. Treatment may include increased fluid and salt intake, medications to regulate blood pressure, and physical therapy.
What you can do
Primary Immunodeficiency
- See a Specialist: Consult an immunologist for a thorough evaluation and appropriate testing.
- Prevent Infections: Practice good hygiene, avoid crowded places during flu season, and stay up-to-date with vaccinations.
Chronic Epstein-Barr Virus (EBV) Infection
- Manage Symptoms: Rest, stay hydrated, and eat a balanced diet to support your immune system.
- Monitor Liver Health: Regular check-ups with your doctor to monitor liver function and manage any complications.
Mast Cell Activation Syndrome (MCAS)
- Avoid Triggers: Identify and avoid known triggers such as certain foods, stress, and environmental factors.
- Medications: Over-the-counter antihistamines may help manage symptoms. Consult your doctor for prescription options.
Postural Orthostatic Tachycardia Syndrome (POTS)
- Lifestyle Changes: Increase fluid and salt intake, wear compression stockings, and avoid prolonged standing.
- Exercise: Engage in a regular, gentle exercise program to improve circulation and overall health.
General Tips
- Symptom Journal: Use MDandMe to journal your symptoms, track progress, get insights, and share longitudinal medical notes with your provider.
- Stay Informed: Educate yourself about your conditions and stay in regular contact with your healthcare providers.
What you should look out for
Given the complexity and severity of your symptoms, it's important to seek medical care as soon as possible. Reasons to seek care more urgently include:
- Severe Infections: High fever, severe pain, or signs of a serious infection.
- Severe Fatigue or Weakness: If you feel extremely weak or fatigued, especially if it worsens suddenly.
- Severe Gastrointestinal Symptoms: Persistent vomiting, severe abdominal pain, or blood in your stool.
- Neurological Symptoms: Severe headaches, vision changes, or difficulty speaking or moving.
Remember, while I can provide information and suggestions, it's crucial to consult with real health professionals to receive a formal diagnosis and appropriate treatment. If you have more questions or need further assistance, feel free to continue the conversation.
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6 mo ago