Differential Diagnosis
The patient's complex presentation of symptoms requires a comprehensive differential diagnosis. The following categories outline potential diagnoses:
- Single most likely diagnosis
- Celiac Disease: The patient's improvement after cutting out wheat, combined with gastrointestinal symptoms (bloating, diarrhea, vomiting, abdominal pain), and other systemic symptoms (elevated liver enzymes, inflammation, pruritus, nocturnal low-grade fevers), suggests celiac disease as a strong possibility. Celiac disease is an autoimmune disorder that can cause a wide range of symptoms beyond gastrointestinal issues, including neurological symptoms like ADHD and seizures, and can also lead to malabsorption, which might contribute to the patient's overall condition.
- Other Likely diagnoses
- Non-Celiac Gluten Sensitivity (NCGS): Similar to celiac disease, NCGS can present with a variety of symptoms, including gastrointestinal issues, fatigue, and neurological symptoms, which improve with a gluten-free diet. The absence of specific markers for celiac disease might point towards NCGS.
- Hashimoto's Thyroiditis: This autoimmune condition can cause a wide range of symptoms, including fatigue, weight changes, gastrointestinal issues, and neurological symptoms. The inflammation in the neck could be related to thyroiditis.
- Systemic Lupus Erythematosus (SLE): SLE is a systemic autoimmune disease that can present with a variety of symptoms, including joint pain, fever, fatigue, skin rashes, and neurological symptoms. The patient's inflammation, fever, and potentially the seizure could be indicative of SLE.
- Do Not Miss (ddxs that may not be likely, but would be deadly if missed.)
- Lymphoma: Certain types of lymphoma, particularly those associated with celiac disease or other autoimmune conditions, could explain some of the patient's symptoms, including nocturnal fevers, weight loss (if present), and abdominal pain.
- Neurodegenerative Diseases (e.g., Multiple System Atrophy): The combination of neurological symptoms (restless legs, ADHD, seizure, progressively worsening vision) and systemic symptoms could, in rare cases, suggest a neurodegenerative disease.
- Infectious Diseases (e.g., Endocarditis, Lyme Disease): Although less likely, certain infectious diseases could explain some of the patient's symptoms, such as irregular rapid heart rate, fever, and inflammation.
- Rare diagnoses
- Ehlers-Danlos Syndrome: This group of disorders affects connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Some types can present with gastrointestinal symptoms, joint hypermobility, and potentially some of the other symptoms described.
- Mitochondrial Disorders: These are a group of disorders caused by dysfunctional mitochondria, which can lead to a wide range of symptoms, including neurological issues, gastrointestinal problems, and systemic symptoms like fatigue and fever.
Each of these diagnoses requires careful consideration and further investigation to determine the underlying cause of the patient's complex presentation of symptoms.