Table of ContentsView AllTable of ContentsTypesAutoinflammatory vs. AutoimmuneSymptomsCausesDiagnosisTreatment

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Table of Contents

Types

Autoinflammatory vs. Autoimmune

Symptoms

Causes

Diagnosis

Treatment

Most (but not all) autoinflammatory diseases are genetic, start in childhood, and will continue into adulthood. They will affect multiple family members. There are instances where one of these conditions is acquired and occurs as a result of a new gene mutation.

An acquired autoinflammatory disease can develop at any time during childhood or in adulthood. Here is what you need to know about autoinflammatory diseases, including different types, how they are different from autoimmune diseases, common symptoms, causes, diagnosis, and treatment.

Laura Porter / Verywell

Types of Autoinflammatory Disease

Examples of autoinflammatory diseases include:

Behcet’s Disease

Behcet’s diseasetypically emerges in adulthood (roughly the 20s and 30s) but children are diagnosed in 15% to 20% of all cases.It’s a type ofvasculitisthat can lead to blood vessel inflammation of varying degrees of severity, including complications that can prove fatal.

Early symptoms usually includemouth sores, with genital sores commonly occurring. Children often experience gastrointestinal symptoms, but adults also encounter abdominal pain, nausea, diarrhea, anddigestive tract bleedingas their disease progresses. Behcet’s disease also can affect:

The precise cause of Behcet’s disease remains unknown, but genetic and environmental factors are believed to play a role. Diagnosis depends on your symptoms and medical history, since there are no specific tests. There is no cure, but Behcet’s can be managed with medication and lifestyle changes.

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Familial Mediterranean Fever

Familial Mediterranean fever(FMF) is a genetic autoinflammatory disease that causes recurrent fevers and painful inflammation of the joints, lungs, and abdomen. FMF mostly affects people of Mediterranean origins—including those of Greek, Italian, Arab, North African, Jewish, Turkish, or Armenian backgrounds.

According to the National Human Genome Research Institute, FMF affects 1 in 200 people from these backgrounds.It can also affect other ethnic groups although the frequency in those groups is much less.

While there is no cure for FMF, treatment can relieve or prevent symptoms. FMF can be managed as long as a person with the condition sticks to their treatment plan.

Cryopyrin-Associated Periodic Syndrome

Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disease that includes three different conditions with overlapping symptoms.

Familial cold autoinflammatory syndrome(FCAS): This syndrome causes episodes of fever, an itchy or burning rash, and joint pain after exposure to cold temperatures. FCAS is an extremely rare condition affecting one out of every one million people.

This condition causes periods of skin rash, fever, and joint pain. It can lead to hearing loss and kidney disease. MWS is rare, and while it has been reported in many parts of the world, the prevalence of the condition is unknown.

Neonatal-onset multisystem inflammatory disease(NOMID): NOMID is a disorder that causes ongoing inflammation and tissue damage to the nervous system, skin, and joints, and recurrent episodes of mild fever. People with NOMID have skin rash present at birth and that persists throughout their lives.

NOMID can cause chronic meningitis— inflammation of the tissues of the brain and spinal cord. It can also cause intellectual disability, hearing loss, and vision problems. NOMID is extremely rare with only about 100 cases reported worldwide.

Of these three conditions, the mildest form is FCAS and the most severe is NOMID, with MWS being an intermediate type.

CAPS is inherited in an autosomal dominant pattern—that means the diseased is transmitted from one parent who has the disease and carries an abnormal copy of the gene.Since everyone has two copies of all of their genes, the risk that an affected parent can pass a gene mutation to their child is 50%, although new mutations can occur.

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TNF Receptor-Associated Periodic Syndrome

TNF receptor-associated periodic syndrome (TRAPS) is a rare, genetic disease that causes recurrent episodes of fever lasting a week or more. Along with fever, TRAPS will also cause chills, muscle and abdominal pain, and a spreading skin rash.

TRAPS affects about one person in every million people. It is the second most common autoinflammatory disease.TRAPS results from a gene defect in a tumor necrosis factor receptor protein and is inherited through an autosomal dominant inheritance pattern.

Fever episodes will occur without reason. Episodes may come about because of triggers like an injury, infection, stress, and hormone changes. These episodes—called flares—can begin at any age, but most people have the first episode during childhood.

People with TRAPS will sometimes developamyloidosis, an abnormal buildup of amyloid protein in the kidneys. Amyloidosis canlead to kidney problems. About 15% to 20% of people with TRAPS will develop amyloidosis, usually in middle adulthood.

Deficiency of IL-1-Receptor Antagonist

Deficiency of IL-1-receptor antagonist (DIRA) is an autosomal recessive genetic autoinflammatory syndrome. In autosomal recessive inheritance, both copies of a gene will have mutations.

The parents of a person who inherits an autosomal recessive condition will both carry one copy of the mutated gene without showing signs of the condition. These conditions are not normally seen in every generation of an affected family.

DIRA causes severe skin and bone inflammation and it may affect the internal organs. If this condition goes untreated, a child with the condition may suffer from severe damage to their body, including the skin, joints, and internal organs. DIRA can be fatal especially in early childhood.

Bone and joint inflammation can cause the skin over the affected areas to be inflamed as well. Children with DIRA experience intense chronic pain that may affect feeding and growth and cause severe suffering.

Hyper IgD Syndrome

A new mutation can also cause HIDS. But having the mutation does not mean you will develop the condition.

Symptoms of HIDS start as early as the first year of life.Bloodwork associated with HIDS will show MVK mutations and elevated levels of inflammation during flares. HIDS is a lifelong condition, but it may improve in adulthood.

HIDS causes attacks that start with chills and a fever that can last for days. Additional symptoms include:

Adult Onset Still’s Disease

Adult-onset Still’s disease (AOSD) is a type of inflammatory arthritis that includes joint pain symptoms along with high fever and skin rash.It was first identified in children, and medical researchers often consider the two variants to be the same disease on a continuing spectrum.

Additional findings common with AOSD include:

Other symptoms can include swollen lymph nodes and enlarged liver or spleen.Many people experience arthritis symptoms with AOSD, but some develop life-threatening complications.

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Autoinflammatory vs. Autoimmune Diseases

Both autoimmune and autoinflammatory diseases involve immune system malfunction. They may cause similar symptoms, such as joint pain and swelling, rashes, and fatigue.

What is distinct between these two types of disease categories is their underlying causes. Differences in their causes mean these diseases are not treated the same. They can also cause different long-term problems and complications.

Autoinflammatory diseases affect the innate immune system, while autoimmune diseases affect the adaptive immune system.

The adaptive immune system has learned throughout a person’s life what pathogens to attack. Once the adaptive immune system attacks a pathogen, it learns from it and producesantibodiesto attack that pathogen type when it occurs again. The adaptive immune system is specific in its attacks.

The body’s innate immune system isn’t specific or adaptive. Rather, it will use white blood cells and acute inflammation (short-term inflammation) to attack a pathogen.

The innate immune system often responds to triggers, but sometimes, responses of the innate immune system become chronic and lead to systemic inflammation. Fever is the primary symptom of this response.

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Autoinflammatory Disease Symptoms

The most common symptom of autoinflammatory conditions is recurrent fever.

Additional symptoms include:

Because these conditions cause systemic inflammation, they may affect multiple organs and body systems.

Complications associated with these conditions can include:

More recent advances in genetics have helped researchers to identify changes in the genes responsible for these conditions. This has helped researchers to diagnose specific autoinflammatory diseases through the genes that cause them.

How Genetic Disorders Are Inherited

A diagnosis of an autoinflammatory disease can be made with a physical examination, a review of family medical history, bloodwork, andgenetic testing. Here is what may be expected:

Genetic tests for autoinflammatory conditions are not used as a lone tool for diagnosis. This is because having a gene mutation doesn’t mean a person will develop the condition associated with it.

The goals of treatment for autoinflammatory diseases are to reduce inflammation and suppress the overactive immune system response.Therapies will also help to control recurrent fever, pain, and other symptoms produced from the inflammatory response.

Corticosteroid therapyandnonsteroidal anti-inflammatory drugs(NSAIDs) are used early on to treat inflammation. But corticosteroids cannot be used long-term because they can cause serious side effects like elevated eye pressure, fluid retention of the legs,high blood pressure, mood swings, cognition problems, and weight gain.

Antitumor necrosis factor (TNF) therapyhas also been used successfully to treat several types of autoinflammatory diseases. Other biologics such as Anakinra (Kineret) and Ilaris (canakinumab) ,which block a protein call interleukin-1, have shown efficacy in a number of these conditions.

A Word From Verywell

Autoinflammatory diseases are complex in their causes, symptoms, and how they are treated. They are also challenging to live with, but researchers are continually working to recognize and diagnose these conditions.

Research on treating autoinflammatory diseases is growing and researchers continue to look for better treatments to target parts of the innate immune system that become overactive.

If any of these conditions run in your family, talk to your healthcare provider about concerns you may have for your children. And if you notice symptoms of any of these disorders in your child or if you develop these as an adult, get in touch with your practitioner. The sooner a diagnosis can be made, the easier it can be to treat these conditions and prevent complications.

19 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Institute for Quality and Efficiency in Health Care.The innate and adaptive immune systems.Yildiz M, Haslak F, Adrovic A, Sahin S, Koker O, Barut K,et al.Pediatric Behçet’s Disease.Front Med (Lausanne). 2021 Feb 3;8:627192. doi:10.3389/fmed.2021.627192.Costagliola G, Cappelli S, Consolini R.Behçet’s Disease in Children: Diagnostic and Management Challenges.Ther Clin Risk Manag. 2020 Jun 11;16:495-507. doi:10.2147/TCRM.S232660.National Human Genome Research Institute.About familial Mediterranean fever.Cush JJ.Autoinflammatory syndromes.Dermatol Clin. 2013;31(3):471-480. doi:10.1016/j.det.2013.05.001Medline Plus.Cyropyrin-associated periodic syndromes.Medline Plus.Tumor necrosis factor receptor-associated periodic syndrome.Ahmadi N, Brewer CC, Zalewski C, et al.Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.Otolaryngol Head Neck Surg. 2011;145(2):295-302. doi:10.1177/0194599811402296Medline Plus.Autosomal dominant.Medline Plus.Autosomal recessive.Schnellbacher C, Ciocca G, Menendez R, et al.Deficiency of interleukin-1 receptor antagonist responsive to anakinra.Pediatr Dermatol. 2013;30(6):758-760. doi:10.1111/j.1525-1470.2012.01725.xGenetic and Rare Diseases Information Center.Hyper-IgD syndrome.Efthimiou P, Kontzias A, Hur P, Rodha K, Ramakrishna GS, Nakasato P.Adult-onset Still’s disease in focus: Clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies.Semin Arthritis Rheum. 2021 Aug;51(4):858-874. doi:10.1016/j.semarthrit.2021.06.004.Macovei LA, Burlui A, Bratoiu I, Rezus C, Cardoneanu A, Richter P,et al.Adult-Onset Still’s Disease-A Complex Disease, a Challenging Treatment.Int J Mol Sci. 2022 Oct 24;23(21):12810. doi:10.3390/ijms232112810.Arakelyan A, Nersisyan L, Poghosyan D, et al.Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One. 2017;12(11):e0187572. doi:10.1371/journal.pone.0187572Ciccarelli F, De Martinis M, Ginaldi L.An update on autoinflammatory diseases.Curr Med Chem. 2014;21(3):261-269. doi:10.2174/09298673113206660303Moreira A, Torres B, Peruzzo J, et al.Skin symptoms as diagnostic clue for autoinflammatory diseases.An Bras Dermatol. 2017;92(1):72-80. doi:10.1590/abd1806-4841.20175208Sterba G, Sterba Y.Controlling inflammation: contemporary treatments for autoinflammatory diseases and syndromes.Dermatol Clin. 2013 Jul;31(3):507-11. doi: 10.1016/j.det.2013.04.007Saag KG, Furst DE.Major side effects of systemic glucocorticoids.

19 Sources

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Institute for Quality and Efficiency in Health Care.The innate and adaptive immune systems.Yildiz M, Haslak F, Adrovic A, Sahin S, Koker O, Barut K,et al.Pediatric Behçet’s Disease.Front Med (Lausanne). 2021 Feb 3;8:627192. doi:10.3389/fmed.2021.627192.Costagliola G, Cappelli S, Consolini R.Behçet’s Disease in Children: Diagnostic and Management Challenges.Ther Clin Risk Manag. 2020 Jun 11;16:495-507. doi:10.2147/TCRM.S232660.National Human Genome Research Institute.About familial Mediterranean fever.Cush JJ.Autoinflammatory syndromes.Dermatol Clin. 2013;31(3):471-480. doi:10.1016/j.det.2013.05.001Medline Plus.Cyropyrin-associated periodic syndromes.Medline Plus.Tumor necrosis factor receptor-associated periodic syndrome.Ahmadi N, Brewer CC, Zalewski C, et al.Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.Otolaryngol Head Neck Surg. 2011;145(2):295-302. doi:10.1177/0194599811402296Medline Plus.Autosomal dominant.Medline Plus.Autosomal recessive.Schnellbacher C, Ciocca G, Menendez R, et al.Deficiency of interleukin-1 receptor antagonist responsive to anakinra.Pediatr Dermatol. 2013;30(6):758-760. doi:10.1111/j.1525-1470.2012.01725.xGenetic and Rare Diseases Information Center.Hyper-IgD syndrome.Efthimiou P, Kontzias A, Hur P, Rodha K, Ramakrishna GS, Nakasato P.Adult-onset Still’s disease in focus: Clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies.Semin Arthritis Rheum. 2021 Aug;51(4):858-874. doi:10.1016/j.semarthrit.2021.06.004.Macovei LA, Burlui A, Bratoiu I, Rezus C, Cardoneanu A, Richter P,et al.Adult-Onset Still’s Disease-A Complex Disease, a Challenging Treatment.Int J Mol Sci. 2022 Oct 24;23(21):12810. doi:10.3390/ijms232112810.Arakelyan A, Nersisyan L, Poghosyan D, et al.Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One. 2017;12(11):e0187572. doi:10.1371/journal.pone.0187572Ciccarelli F, De Martinis M, Ginaldi L.An update on autoinflammatory diseases.Curr Med Chem. 2014;21(3):261-269. doi:10.2174/09298673113206660303Moreira A, Torres B, Peruzzo J, et al.Skin symptoms as diagnostic clue for autoinflammatory diseases.An Bras Dermatol. 2017;92(1):72-80. doi:10.1590/abd1806-4841.20175208Sterba G, Sterba Y.Controlling inflammation: contemporary treatments for autoinflammatory diseases and syndromes.Dermatol Clin. 2013 Jul;31(3):507-11. doi: 10.1016/j.det.2013.04.007Saag KG, Furst DE.Major side effects of systemic glucocorticoids.

Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.

Institute for Quality and Efficiency in Health Care.The innate and adaptive immune systems.Yildiz M, Haslak F, Adrovic A, Sahin S, Koker O, Barut K,et al.Pediatric Behçet’s Disease.Front Med (Lausanne). 2021 Feb 3;8:627192. doi:10.3389/fmed.2021.627192.Costagliola G, Cappelli S, Consolini R.Behçet’s Disease in Children: Diagnostic and Management Challenges.Ther Clin Risk Manag. 2020 Jun 11;16:495-507. doi:10.2147/TCRM.S232660.National Human Genome Research Institute.About familial Mediterranean fever.Cush JJ.Autoinflammatory syndromes.Dermatol Clin. 2013;31(3):471-480. doi:10.1016/j.det.2013.05.001Medline Plus.Cyropyrin-associated periodic syndromes.Medline Plus.Tumor necrosis factor receptor-associated periodic syndrome.Ahmadi N, Brewer CC, Zalewski C, et al.Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.Otolaryngol Head Neck Surg. 2011;145(2):295-302. doi:10.1177/0194599811402296Medline Plus.Autosomal dominant.Medline Plus.Autosomal recessive.Schnellbacher C, Ciocca G, Menendez R, et al.Deficiency of interleukin-1 receptor antagonist responsive to anakinra.Pediatr Dermatol. 2013;30(6):758-760. doi:10.1111/j.1525-1470.2012.01725.xGenetic and Rare Diseases Information Center.Hyper-IgD syndrome.Efthimiou P, Kontzias A, Hur P, Rodha K, Ramakrishna GS, Nakasato P.Adult-onset Still’s disease in focus: Clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies.Semin Arthritis Rheum. 2021 Aug;51(4):858-874. doi:10.1016/j.semarthrit.2021.06.004.Macovei LA, Burlui A, Bratoiu I, Rezus C, Cardoneanu A, Richter P,et al.Adult-Onset Still’s Disease-A Complex Disease, a Challenging Treatment.Int J Mol Sci. 2022 Oct 24;23(21):12810. doi:10.3390/ijms232112810.Arakelyan A, Nersisyan L, Poghosyan D, et al.Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One. 2017;12(11):e0187572. doi:10.1371/journal.pone.0187572Ciccarelli F, De Martinis M, Ginaldi L.An update on autoinflammatory diseases.Curr Med Chem. 2014;21(3):261-269. doi:10.2174/09298673113206660303Moreira A, Torres B, Peruzzo J, et al.Skin symptoms as diagnostic clue for autoinflammatory diseases.An Bras Dermatol. 2017;92(1):72-80. doi:10.1590/abd1806-4841.20175208Sterba G, Sterba Y.Controlling inflammation: contemporary treatments for autoinflammatory diseases and syndromes.Dermatol Clin. 2013 Jul;31(3):507-11. doi: 10.1016/j.det.2013.04.007Saag KG, Furst DE.Major side effects of systemic glucocorticoids.

Institute for Quality and Efficiency in Health Care.The innate and adaptive immune systems.

Yildiz M, Haslak F, Adrovic A, Sahin S, Koker O, Barut K,et al.Pediatric Behçet’s Disease.Front Med (Lausanne). 2021 Feb 3;8:627192. doi:10.3389/fmed.2021.627192.

Costagliola G, Cappelli S, Consolini R.Behçet’s Disease in Children: Diagnostic and Management Challenges.Ther Clin Risk Manag. 2020 Jun 11;16:495-507. doi:10.2147/TCRM.S232660.

National Human Genome Research Institute.About familial Mediterranean fever.

Cush JJ.Autoinflammatory syndromes.Dermatol Clin. 2013;31(3):471-480. doi:10.1016/j.det.2013.05.001

Medline Plus.Cyropyrin-associated periodic syndromes.

Medline Plus.Tumor necrosis factor receptor-associated periodic syndrome.

Ahmadi N, Brewer CC, Zalewski C, et al.Cryopyrin-associated periodic syndromes: otolaryngologic and audiologic manifestations.Otolaryngol Head Neck Surg. 2011;145(2):295-302. doi:10.1177/0194599811402296

Medline Plus.Autosomal dominant.

Medline Plus.Autosomal recessive.

Schnellbacher C, Ciocca G, Menendez R, et al.Deficiency of interleukin-1 receptor antagonist responsive to anakinra.Pediatr Dermatol. 2013;30(6):758-760. doi:10.1111/j.1525-1470.2012.01725.x

Genetic and Rare Diseases Information Center.Hyper-IgD syndrome.

Efthimiou P, Kontzias A, Hur P, Rodha K, Ramakrishna GS, Nakasato P.Adult-onset Still’s disease in focus: Clinical manifestations, diagnosis, treatment, and unmet needs in the era of targeted therapies.Semin Arthritis Rheum. 2021 Aug;51(4):858-874. doi:10.1016/j.semarthrit.2021.06.004.

Macovei LA, Burlui A, Bratoiu I, Rezus C, Cardoneanu A, Richter P,et al.Adult-Onset Still’s Disease-A Complex Disease, a Challenging Treatment.Int J Mol Sci. 2022 Oct 24;23(21):12810. doi:10.3390/ijms232112810.

Arakelyan A, Nersisyan L, Poghosyan D, et al.Autoimmunity and autoinflammation: A systems view on signaling pathway dysregulation profiles. PLoS One. 2017;12(11):e0187572. doi:10.1371/journal.pone.0187572

Ciccarelli F, De Martinis M, Ginaldi L.An update on autoinflammatory diseases.Curr Med Chem. 2014;21(3):261-269. doi:10.2174/09298673113206660303

Moreira A, Torres B, Peruzzo J, et al.Skin symptoms as diagnostic clue for autoinflammatory diseases.An Bras Dermatol. 2017;92(1):72-80. doi:10.1590/abd1806-4841.20175208

Sterba G, Sterba Y.Controlling inflammation: contemporary treatments for autoinflammatory diseases and syndromes.Dermatol Clin. 2013 Jul;31(3):507-11. doi: 10.1016/j.det.2013.04.007

Saag KG, Furst DE.Major side effects of systemic glucocorticoids.

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