Common Symptoms

Symptoms of autoinflammatory diseases can vary but usually occur in recurrent “flare-ups” of inflammation. Common features include:

• Recurrent or persistent high fever without infection
• Skin rashes or red patches during flares
• Joint pain, swelling, or stiffness
• Abdominal or chest pain during attacks
• Mouth ulcers or eye inflammation
• Fatigue and general malaise during flares

Types of Autoinflammatory Diseases

Several genetic and acquired autoinflammatory disorders have been identified. Common types include:

• Familial Mediterranean Fever (FMF): Recurrent fever, abdominal pain, and arthritis due to MEFV gene mutation.
• TNF Receptor-Associated Periodic Syndrome (TRAPS): Long fever episodes, muscle pain, and rash.
• Cryopyrin-Associated Periodic Syndromes (CAPS): Includes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
• Hyper-IgD Syndrome (HIDS): Fever, lymph node swelling, and abdominal pain.
• Adult-Onset Still’s Disease (AOSD): High fevers, rash, arthritis, and elevated inflammation markers.
• Behçet’s Disease: Mouth/genital ulcers, eye inflammation, and skin lesions due to vessel inflammation.

Causes & Mechanism

Autoinflammatory diseases are primarily caused by genetic mutations affecting proteins that regulate the body’s inflammatory response. These mutations lead to uncontrolled release of cytokines such as IL-1, IL-6, and TNF, triggering recurrent inflammation. Environmental factors, infections, or stress may also worsen flares.

Diagnosis of Autoinflammatory Diseases

Diagnosis requires careful evaluation to differentiate from autoimmune and infectious diseases. Common diagnostic methods include:

• Detailed medical and family history with symptom pattern tracking
• Blood tests — high ESR, CRP, ferritin, and elevated white cell count during attacks
• Genetic testing for known autoinflammatory mutations
• Exclusion of infections, malignancies, and autoimmune disorders

Because of overlapping symptoms, diagnosis often requires expertise in systemic inflammatory and genetic conditions.

Treatment & Management

Treatment focuses on controlling inflammation, reducing flare frequency, and preventing organ damage. Management strategies include:

• Nonsteroidal anti-inflammatory drugs (NSAIDs) for mild attacks
• Corticosteroids for short-term control of inflammation
• Colchicine (especially in Familial Mediterranean Fever)
• Biologic agents targeting IL-1, IL-6, or TNF (e.g., Anakinra, Canakinumab, Tocilizumab)
• Lifestyle management — adequate hydration, rest, and avoidance of known triggers

With modern biologic therapies, most patients can achieve long-term remission and normal daily functioning.

Living with Autoinflammatory Diseases

Since these disorders often have lifelong patterns, ongoing monitoring and self-awareness are important. Patients should:

• Maintain a symptom diary to track flare frequency and triggers
• Follow prescribed medications consistently, even between flares
• Stay updated on vaccinations and infection precautions during biologic therapy
• Seek support from specialists familiar with rare immune disorders

Why Choose Dr. Aditi Patankar Deshpande for Autoinflammatory Disease Care?

Dr. Aditi Patankar Deshpande provides specialized evaluation and management of rare and complex autoinflammatory diseases. With her expertise in systemic and immune-mediated disorders, she emphasizes accurate diagnosis, evidence-based biologic therapies, and long-term follow-up to minimize flares and maintain quality of life for her patients.