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Systemic Autoinflammatory Diseases Services at UPMC

Inflammation happens when the immune system responds to an infection or injury. It's needed to fight things that invade the body, such as infections or cancer.

But sometimes, inflammatory responses don't turn off or are overactive.


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What Are Systemic Autoinflammatory Diseases (SAIDs)?

SAIDs are a group of conditions where immune system defects trigger overactive inflammation episodes. Some of these diseases have a known genetic cause.

There are more than 50 SAIDs and more than 500 inborn errors of immunity (inherited/genetic immune disorders).

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

SAIDs are rare and often under-recognized.

At UPMC, our doctors are experts in diagnosing and treating adults and children with these issues.

Working with a SAIDs expert is crucial and may help:

  • Reduce hospital visits.
  • Improve access to genetic testing, counseling, and targeted SAIDs treatments.

Do I Need My Doctor to Refer Me to the UPMC Autoinflammatory Disease Center of Excellence?

Yes. We only accept referrals from other doctors.

Ask your doctor to provide all related health records, including prior genetic testing, if done, when they refer you.

To place a referral:

  • For adults, ask your doctor to call 412-647-3364. We see adults at the UPMC Arthritis and Autoimmunity Center at the Falk Medical Building in Pittsburgh's Oakland neighborhood.
  • For children, ask your child's doctor to call 412-692-5081. We see kids at the Pediatric Autoinflammatory Diseases Clinic at UPMC Children's Hospital of Pittsburgh.

Before your visit, please complete the UPMC SAIDs patient questionnaire (PDF).

You'll have your first and yearly follow-up visits in person.

We also offer video visits for people who need more frequent appointments.

How Do You Diagnose Autoinflammatory Diseases?

Many SAIDs and related immune issues are very rare, making them tough to diagnose.

Some have genetic markers, while others don't.

Because of this, your doctor may base their diagnosis of SAIDs on:

  • Your symptoms.
  • Timing of your flares.
  • Results of lab tests and gene testing.
  • How you respond to treatments.

At UPMC, our state-of-the-art testing lets us tailor precise treatment for each person. This means there's hope for those who suffer from these SAIDs.

Lab tests can show proof of inflammation if checked during a flare, although these may return to normal in between flares.

As we work toward a diagnosis, you may see many members of our team.

We also work closely with the:

  • Genetic and genomic medicine experts at UPMC Children's Hospital of Pittsburgh.
  • Immune Dysregulation Diagnosis and Treatment (IDDAT) Program experts who diagnose and treat people with inborn errors of immunity, including SAIDs.

Autoinflammatory Disease Treatments at UPMC

Many people with SAIDs can live very well. Some SAIDs get better over time.

For more severe and genetic lifelong SAIDs, treatment can help decrease symptoms and long-term effects of inflammation.

Just 10 years ago, people with SAIDs had very few treatment options.

Today, we're able to offer newer treatments like medicines that target distinct problems in the immune system.

These can include:

  • Oral medicine like corticosteroids (prednisone).
  • A shot or IV of biologic drugs.

While they have side effects — as all drugs do — they offer better results than past treatments.

In some cases, drugs can target pathways known to be active in certain SAIDs. In very severe cases, we may suggest a bone marrow transplant.

Why Choose UPMC for SAIDs Care?

Our team takes a group approach to treatment. We meet with you to share our views.

We also meet to align care and take all the experts' input into account to design the best treatment plan.

Our experts have:

  • Trained extensively in SAID-specific rheumatology at the National Institutes of Health (NIAID, NHGRI). This is where doctors first described and defined these disorders.
  • Worked in SAID treatment, research, and advocacy for more than 10 years.
  • Treated more than 200 people with SAIDs.
  • Helped create treatment guidelines for diagnosing and managing SAIDs.

As a center focused on SAID diagnosis and treatment, we:

  • Offer targeted genetic testing and whole exome/genome sequencing.
  • Join with the IDDAT Program to diagnose and treat a wide range of rare immune system diseases.
  • Work with a broad network of colleagues to provide cutting-edge tests and treatments.
  • Are one of the only SAID centers in the U.S. giving care to both children and adults.

More SAIDs Resources

  • Autoinflammatory Alliance.
  • SAID Support Blog.

Traveling to Pittsburgh for SAIDs care?

  • Angel Flight.
  • MATP.
  • Wings of Hope.
  • Lodging: Family House.

SAIDs education and research

  • The International Society of Systemic Auto-Inflammatory Diseases.
  • Infevers (ISSAID Database of SAID-associated Mutations).
  • Online Mendelian Inheritance in Man®.
  • CME Video: Rare Genetic Rheumatic Diseases.
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