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Systemic Autoinflammatory Diseases Causes, Symptoms, and Treatments

Systemic autoinflammatory diseases (SAIDs) can cause a broad range of symptoms and other issues that affect your quality of life.

UPMC's team offers custom treatment and care so you can manage your health issue and live a full, active life.

On this page:

  • SAIDs causes.
  • SAIDs symptoms.
  • SAIDs diagnosis.
  • SAIDs treatment.

Doctors, to refer a patient for SAIDs care, call 412-647-3364 for adults and 412-692-5081 for children.

Please provide us with all pertinent health records, including any prior genetic testing results.

Find a SAIDs Provider.


What Are SAIDs?

SAIDs are rare diseases that affect your immune system.

They happen when a gene's DNA sequence changes and causes your immune system to not function the right way. This triggers inflammation in healthy tissue.

Inflammation is your body's response to an irritant or invader, like bacteria or a virus. Your immune system sends white blood cells and immune cells to attack and fight it off.

When you're sick or injured, inflammation may cause a fever, pain, or swelling as part of the healing process.

With a SAID, the inflammation happens for no reason, causing a widespread inflammatory response.

Symptoms often cause:

  • Fever.
  • Rashes.
  • Pain in your joints, muscles, stomach, or other areas.

The symptoms come and go but tend to appear again in the same pattern.

What are the types of SAIDs?

There are more than 50 known SAIDs, often diagnosed in children.

Each SAID type has its own course. Some SAIDs go away on their own in a few years without issues. With others, chronic inflammation can lead to long-term effects if you don't manage it.

While all are rare, this autoinflammatory diseases list includes the more common types:

  • Familial cold autoinflammatory syndrome (FCAS). A lifelong disorder you inherit that starts when you're an infant or in early childhood. It causes a rash, fever, joint pain, and inflammation triggered when you're exposed to cold temperatures.
  • Familial Mediterranean fever (FMF). The most common genetic SAID, it tends to affect people of Mediterranean descent and starts in childhood. FMF causes chronic fevers, chest and belly pain, and skin rashes lasting one to three days.
  • Muckle-Wells syndrome (MWS). Hereditary, most families share common symptoms. These may include periods of a hive-like rash, fever, and joint pain after you're exposed to the cold.
  • Neonatal onset multisystem inflammatory disease (NOMID). This disease affects the skin, joints, eyes, and central nervous system. The first sign is a rash that forms in newborns. Other problems can follow, such as fever, meningitis, hearing and vision loss, and brain damage.
  • Periodic fevers, cervical adenitis, pharyngitis, and aphthous stomatitis (PFAPA). The most common SAID in young children, it causes fevers with swollen lymph nodes, mouth sores, and a sore throat. These may last for days and recur every six weeks. PFAPA may go away on its own after a number of years.
  • Schnitzler syndrome. This syndrome starts in adults in midlife and often affects men more than women. Symptoms include a hive-like rash and a fever that recurs.
  • Tumor necrosis factor receptor-associated periodic syndrome (TRAPS). This syndrome causes a high fever that lasts for weeks. Other symptoms include a skin rash, severe stomach, chest, or joint pain, and swelling in or around the eyes.

What causes autoinflammatory diseases?

Many SAIDs happen when a gene changes or mutates, which then affects how your innate immune system works.

A parent can pass a changed gene to a child. Genetic changes can also happen later in life after you're exposed to something in your setting or an illness.

Sometimes, doctors aren't sure what causes SAIDs.

What are SAID risk factors and complications?

The main risk factor is a family history.

You may have a higher risk if your parents or siblings have a SAID.

SAID complications may include:

  • Amyloidosis (buildup of a protein that can damage organs).
  • An enlarged liver or spleen.
  • Arthritis.
  • Hearing problems.
  • Inflammation in your heart, lungs, or brain.
  • Infertility (if amyloidosis does damage to reproductive organs).
  • Kidney damage.
  • Vision problems.
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Autoinflammatory Diseases Symptoms and Diagnosis

What are the signs and symptoms of SAIDs?

Each SAID has a unique pattern of symptoms that appear during a flare and often go away between flares.

Some of the more common signs and symptoms of SAIDs include:

  • Belly pain, diarrhea, vomiting, and other symptoms in the stomach or intestines.
  • Fevers (most often higher than 100.4 F).
  • Fluid or inflammation around the heart or lungs.
  • Mouth or genital sores.
  • Painful or swollen joints or body aches.
  • Rashes.
  • Red eyes or inflammation inside or around the eyes.
  • Sore throat with inflamed tonsils.
  • Swollen lymph nodes.

How do you diagnose SAIDs?

To diagnose a SAID, doctors must rule out other health problems, like infections, that have common symptoms.

To find out if you have a SAID, your doctor may:

  • Ask about your symptoms and any patterns.
  • Look at your family history.
  • Do an exam to check your skin, joints, and other affected parts of your body.
  • Do bloodwork to check your white blood cells and inflammatory markers in your blood.
  • Order genetic testing.
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What Are the Treatment Options for Autoinflammatory Diseases?

With proper monitoring and treatment, many people with SAIDs can live active and healthy lives.

SAIDs are complex, but UPMC provides complete and custom care.

Some SAIDs will get better with time.

Medicine and lifestyle changes can help manage symptoms and decrease the long-term effects of inflammation.

Medicine to treat SAIDs

  • Anti-inflammatory drugs, NSAID pain relievers, or corticosteroids you take by mouth.
  • Biologic treatments through a shot or IV.

An expert SAIDs team at UPMC

Having a group of many experts lets us provide thorough SAIDs care.

The team includes experts in:

  • Rheumatic diseases, joint, bone, and connective tissue health.
  • Immune disorders.
  • Infectious diseases.
  • Skin, digestive system, and kidney health issues.
  • Mental health.
  • Diet and nutrition.
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