Systemic Autoinflammatory Diseases (SAIDs)

Inflammation is a natural response of the immune system to infections, injuries, or cancer. For most children, the immune system helps fight illness. For children with systemic autoinflammatory diseases (SAIDS), the immune system is overactive. This causes seemingly unprovoked inflammation.

To refer a patient to the Pediatric Autoinflammatory Disease Center (PADC) at UPMC Children's Hospital of Pittsburgh, call 412-692-5081.

What Are Systemic Autoinflammatory Diseases (SAIDs)?

SAIDs are a group of rare conditions where the immune system is dysregulated. The immune system wrongly triggers periodic or chronic bursts of inflammation. This inflammation may cause fever and other symptoms.

SAIDs are rare, though many cases likely go undiagnosed.

Some have a known genetic cause, and many are lifelong conditions that start in childhood.

Types of SAIDs we treat at UPMC Children's

We see many kids who don't yet have a diagnosis for persistent or recurrent fevers, rashes, oral ulcers, joint pain, or joint swelling.

Common SAIDs we treat at the PADC include:

  • Aicardi-Goutier syndrome (AGS).
  • Blau syndrome.
  • CANDLE syndrome.
  • Cryopyrin-associated periodic syndromes (CAPS).
  • Familial Mediterranean fever (FMF).
  • Haploinsufficiency of A20 (HA20).
  • Hemophagocytic lymphohistiocytosis (HLH)/Macrophage activation syndrome (MAS).
  • Hereditary periodic fever syndromes.
  • Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)/mevalonate kinase deficiency (MKD).
  • NLRC4 mutation (autoinflammation with infantile enterocolitis).
  • NLRP12 autoinflammatory disease or familial cold autoinflammatory syndrome type 2 (FCAS2).
  • Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA).
  • STING-associated vasculopathy with onset in infancy (SAVI).
  • TNF receptor-associated periodic syndrome (TRAPS).

How Do I Know If My Child Has SAID?

Many kids with SAIDs have:

  • Periods of high, unexplained, unprovoked fevers.
  • Recurrent inflammation flare-ups (in the absence of infection).
  • Pain, swelling, or other problems in parts of the body such as the eyes, skin, mouth, throat, joints, or lungs.

Autoinflammatory disease symptoms

There are over 50 different SAIDs and over 500 inborn errors of immunity. Each has a unique pattern of symptoms.

In some kids, SAIDs can cause a wide range of symptoms and health problems. Untreated, uncontrolled inflammation can cause permanent organ damage.

Common symptoms of SAIDs include:

  • Fatigue.
  • Fevers (often higher than 100.4 F).
  • Fluid or swelling around the heart or lungs.
  • GI tract symptoms including tummy pain, diarrhea, or vomiting.
  • Mouth and/or genital sores.
  • Painful or swollen joints or body aches.
  • Rashes, or other skin findings.
  • Swollen lymph nodes.
  • Sore throat with inflamed tonsils.
  • Red eyes, or swelling inside or around the eyes.

Some SAIDs can cause chronic inflammation, resulting in:

  • An enlarged liver or spleen.
  • Lung disease.
  • Neurologic symptoms.
  • Hearing or vision problems.
  • Joint contractures.

How Do Doctors Diagnose SAIDs in Kids?

Many SAIDs have genetic markers, though some do not.

Because of this, doctors will base your child's diagnosis on:

  • Symptoms.
  • Timing of flares.
  • Lab and genetic tests.
  • Response to treatments.

Lab tests often show proof of inflammation if checked during a flare. These may return to normal in between flares in certain SAIDs.

UPMC brings together a team of rare disease experts in the varied systems immune disorders can affect.

What Are the Treatment Options for My Child's SAIDs?

Your child can receive routine SAIDs care at UPMC Children's or we can co-manage it with their referring doctor.

Many SAIDs are lifelong issues that start during childhood but can persist into adulthood.

Treatment can help decrease symptoms and long-term effects of inflammation. Some medications can target pathways known to be active in specific SAIDs.

SAIDs treatments can include:

  • Corticosteroids like prednisone.
  • Pills.
  • Biologic treatments via a shot or IV.
  • Bone marrow transplant in very severe cases.

Because of the state-of-the-art testing at UPMC, we tailor precise treatments for each child. And that means there's hope for those who suffer from these illnesses.

Refer a Patient to the PADC at UPMC Children's Hospital

Ask your child’s doctor to refer them to us by calling 412-692-5081. They'll need to provide all related health records, including prior genetic testing if done.

They can fax your child's health records to 412-692-5054. Upon receipt of your child's records, we'll review them and let your child's referring doctor know if we can see them.

Your child will have their initial visit and yearly follow-up visits in-person at the PADC in Pittsburgh. For out of state residents, we offer the option of video visits in between yearly in-person visits