Differential Diagnosis for Periodic Fever Syndrome or Autoinflammatory Disease
Single Most Likely Diagnosis
- TNF Receptor-Associated Periodic Syndrome (TRAPS): This condition can present at any age, including adulthood, and is characterized by recurrent episodes of fever, abdominal pain, and rash. Hepatosplenomegaly can be a feature, especially during flares. The late onset and presence of hepatosplenomegaly make TRAPS a strong consideration.
Other Likely Diagnoses
- Familial Mediterranean Fever (FMF): Although FMF typically presents in childhood, it can have a late onset. It is characterized by recurrent episodes of fever, serositis, and arthritis. Hepatosplenomegaly can occur, particularly in patients with amyloidosis, a complication of untreated or undertreated FMF.
- Hyper-IgD Syndrome (HIDS): This condition is characterized by recurrent episodes of fever, often accompanied by abdominal pain, rash, and lymphadenopathy. Hepatosplenomegaly can be present, and while it typically starts in infancy or early childhood, some cases may have a later onset.
Do Not Miss Diagnoses
- Adult-Onset Still's Disease (AOSD): AOSD is a systemic inflammatory disorder that can present with high fevers, rash, and hepatosplenomegaly. It is crucial to consider AOSD due to its potential for severe complications if not promptly treated.
- Lymphoma: Although not a periodic fever syndrome per se, lymphoma can present with recurrent fevers, hepatosplenomegaly, and systemic symptoms that might mimic an autoinflammatory disease. Given the potential for severe outcomes, it's essential to rule out lymphoma.
Rare Diagnoses
- Muckle-Wells Syndrome (MWS): This is a rare autoinflammatory disorder characterized by recurrent episodes of fever, rash, and joint pain, often leading to hearing loss and amyloidosis. Hepatosplenomegaly can be a feature, but the condition is very rare and typically presents in early childhood.
- Cryopyrin-Associated Periodic Syndrome (CAPS): CAPS encompasses a spectrum of autoinflammatory disorders, including familial cold autoinflammatory syndrome, MWS, and neonatal-onset multisystem inflammatory disease. While hepatosplenomegaly can occur, especially in more severe forms, CAPS is rare and usually presents in infancy or early childhood.