Autoinflammatory Diseases Program
Autoinflammatory Diseases Program
55 Fruit Street, Yawkey 4B
Boston, MA 02114
The Autoinflammatory Diseases Program, housed within the Rheumatology Unit at Massachusetts General Hospital, provides individualized, evidence-based care to people with known or suspected autoinflammatory diseases. Led by Jonathan S. Hausmann, MD, the clinic specializes in the diagnosis and management of people with known or suspected autoinflammatory diseases or recurrent fever syndromes. We work collaboratively with physicians in other specialties to provide comprehensive care to patients and their families. We combine cutting-edge patient care with research to improve our understanding of these disorders.
What Are Autoinflammatory Diseases?
Autoinflammatory diseases are a group of rare disorders characterized by episodic or continuous fevers and inflammation. Patients may present with various symptoms including recurrent fevers, joint pain, rashes, abdominal pain, chest pain, headaches, or enlarged lymph nodes. Bloodwork during episodes of inflammation commonly show elevated white blood cells and measures of inflammation such as sedimentation rate and C-reactive protein. In between episodes, patients often feel well, and the bloodwork may return to normal.
Autoinflammatory diseases are caused by errors in the innate immune system. Unlike those with autoimmune diseases, people with autoinflammatory diseases do not typically have autoantibodies such as the anti-nuclear antibody (ANA). Many autoinflammatory diseases are genetic and present during childhood; there may be a history of other family members presenting with similar symptoms. Other autoinflammatory diseases are acquired and present during adulthood; these diseases are thought to be triggered due to new mutations or due to the interplay between a person’s genes and the environment.
Autoinflammatory diseases were first described in the late 1990’s and our understanding of these rare disorders continues to expand rapidly. These rare disorders have advanced our understanding of the immune system and the process of inflammation that is involved in more common diseases.
What to Expect
Prior to the visit, we expect to receive and review your medical records to better understand the course of illness, the workup that has been done, and any treatments that have been used in the past.
The visit begins by taking a thorough history, including discussing when symptoms started, the symptoms experienced during episodes, any potential triggers for disease flares, a review of the family history, and gaining an understanding of how the disease has impacted a person’s life. We will then conduct a thorough physical exam focusing on the organ systems that may be affected by autoinflammatory diseases. Lab work may be ordered to detect the presence of inflammation and to rule out other mimicking conditions such as chronic infections, autoimmune diseases, or malignancy, as appropriate. Imaging studies may be ordered as well. During a disease flare, we try to evaluate patients in clinic or repeat the lab work to see if there are characteristic changes that may support the diagnosis of autoinflammatory diseases. Genetic testing for autoinflammatory diseases may be ordered.
If a diagnosis of autoinflammatory disease is strongly suspected, patients may be asked to use medications as needed during flares or more regularly to prevent flares from occurring.
However, even after a thorough workup, many patients with recurrent fevers cannot be provided with a specific genetic diagnosis. Nevertheless, if an autoinflammatory disease is strongly suspected, we will still work to find medications to reduce or prevent flares from occurring. Our goal for all patients is to reduce or eliminate disease flares, prevent organ damage, and maximize quality of life.
What diseases do we treat?
We evaluate and treat patients with a wide variety of conditions including, but not limited to:
Multifactorial autoinflammatory diseases
- Adult onset Still disease (AOSD)
- Systemic juvenile idiopathic arthritis (sJIA)
- Schnitzler syndrome
- Behcet’s syndrome
- Chronic recurrent multifocal osteomyelitis (CRMO) / chronic noninfectious osteomyelitis (CNO)
- Synovitis, acne, pustulosis, hyperostosis and osteitis syndrome (SAPHO)
- Macrophage activation syndrome
- Periodic fevers, aphthous stomatitis, pharyngitis, and adenitis (PFAPA)
- Syndrome of unexplained recurrent fevers (SURF)
Genetic autoinflammatory diseases
Recurrent/Episodic Fever and Abdominal Pain without rashes (Hereditary Periodic Fever Syndromes)
- Familial Mediterranean Fever (FMF)
- Mevalonate kinase deficiency (MKD) / Hyperimmunoglobulin D syndrome (HIDS)
- TNF receptor-associated periodic syndrome (TRAPS)
Syndromes Presenting with Neutrophilic Urticaria (hives)
- Cryopyrin-associated periodic syndromes (CAPS) / NLRP3-associated autoinflammatory disease (NLRP3-AID)
- Familial Cold Autoinflammatory Syndrome (FCAS)
- Muckle-Wells Syndrome (MWS)
- Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Syndromes Presenting with Pustular Skin Rashes and Episodic Fevers
- Deficiency of the IL-1 receptor antagonist (DIRA)
- Majeed syndrome
- Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (PAPA)
- Haploinsufficiency A20 (HA20)
- Deficiency of IL-36 receptor antagonist (DITRA)
- Caspase activation and recruitment domains (CARD)14-mediated psoriasis (CAMPS)
- AP1S3-mediated psoriasis (AMPS)
- Pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND)
- Periodic fever, immunodeficiency, and thrombocytopenia (PFIT)
Syndromes of Vasculopathy and Panniculitis / Lipodystrophy
- Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE) or proteasome-associated autoinflammatory syndromes (PRAAS)
- Otulin-related autoinflammatory syndrome (ORAS)/otulipenia)
Syndromes of Vasculopathy or Vasculitis with Livedo Reticularis
- Sting-associated vasculopathy with onset in infancy (SAVI)
- Aicardi-Goutières syndromes
- Spondyloenchondrodysplasia with immune dysregulation (SPENCD)
- Deficiency of ADA2 (DADA2)
Autoinflammatory Disorders with Granulomatous Skin Diseases
- Blau syndrome or Pediatric Granulomatous Arthritis (PGA)
- PLCγ2-associated antibody deficiency and immune dysregulation (PLAID)
- Autoinflammation and PLAID (APLAID)
- Nuclear factor (NF)-κB essential modulator (NEMO) deleted exon 5 autoin- flammatory syndrome—X-linked (NDAS)
Autoinflammatory Syndromes Associated with Macrophage Activation Syndrome (MAS), Hyperferritinemia and Various Skin Rashes
- NLRC4-associated autoinflammatory syndromes
- LACC1-mediated monogenic Still disease
- Familial hemophagocytic lymphohistiocytosis
Other genetic autoinflammatory diseases
- Coatomer protein complex subunit alpha (COPA) syndrome
- Vacuoles, E1 enzyme, X-linked, autoinflammatory somatic syndrome (VEXAS)
- Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache (ROSAH) syndrome
- Allergy and Immunology
- Department of Medicine
- Attending Neurologist, Massachusetts General Hospital
- Instructor in Neurology, Harvard Medical School
- Director, Dermatology-Rheumatology Clinic
- Director, Autoinflammatory Diseases Program
- Assistant Professor of Medicine, Harvard Medical School
- Instructor, Harvard Medical School
- Associate Program Director for Elective Training, Internal Medicine Residency Program
- Assistant Inpatient Education Director, Cardiology Division
- Assistant Physician, MGH Department of Medicine
- Instructor, Harvard Medical School
- Department of Dermatology
- Ashari, K.A., Hausmann, J.S. and Dedeoglu, F., 2023. Update on autoinflammatory diseases. Current Opinion in Rheumatology, pp.10-1097.
- Hausmann, J., Dedeoglu, F. & Broderick, L. PFAPA (periodic fever, aphthous stomatitis, pharyngitis, adenitis) syndrome and syndrome of unexplained recurrent fevers in children and adults. J Allergy Clin Immunol Pract (2023) doi:10.1016/j.jaip.2023.03.014.
- Hausmann, JS. Targeting cytokines to treat autoinflammatory diseases. Clinical Immunology. February 2019:1–0. doi:10.1016/j.clim.2018.10.016.
- Romano M, Arici S, Piskin D, Alehashemi S, Aletaha D, Barron K, Benseler S, Berard R, Broderick L, Dedeoglu F, Diebold M, Durrant K, Ferguson P, Foell D, Hausmann JS, Jones O, Kastner D, Lachmann H, Laxer R, Rivera D, Ruperto N, Simon A, Twilt M, Frenkel J, Hoffman H, de Jesus A, Kuemmerle-Deschner J, Ozen S, Gattorno M, Goldbach-Mansky R, Demirkaya E. The 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin‐1 Mediated Autoinflammatory Diseases: Cryopyrin‐Associated Periodic Syndromes, Tumour Necrosis Factor Receptor‐Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin‐1 Receptor Antagonist. Arthritis Rheumatol (2022) doi:10.1002/art.42139.
- Ozen S, Lutz H, Rivera V, Reiff A, Batu E, Anderson M, Salas Garcia M, Aldrovandi T, Akbaba İ, Pazarbasi, Y, Bilginer Y, Balat, A, Balci-Peynircioglu B, Gilbert F, Dedeoglu F, Hausmann JS. Microbiome is not linked to clinical disease severity of familial Mediterranean fever in an international cohort of children. Clinical and Experimental Rheumatology (2021) (accepted manuscript).
- Kuemmerle-Deschner JB, Quartier P, Kone-Paut I, Hentgen V, Marzan KA, Dedeoglu F, Lachmann HJ, Kallinich T, Blank N, Ozen S, Bilginer Y, Hausmann JS, Diaz A, Perrinjaquet M, Marinsek N, Lomax KG, Hur P, Dekker EL, Livneh A. Burden of illness in hereditary periodic fevers: a multinational observational patient diary study. Clin Exp Rheumatol. 2020 Sep 30. Epub ahead of print. PMID: 33025894.
- Antón-Vázquez V, Farré EG, Cortes C, Hausmann JS, Corominas H. Adult-Onset Autoinflammatory Syndromes. JCR: Journal of Clinical Rheumatology (2020). doi: 10.1097/RHU.0000000000000956
- Hausmann JS, Lomax KG, Shapiro A, Durrant K. The patient journey to diagnosis and treatment of autoinflammatory diseases. Orphanet Journal of rare diseases. 2018;13(1):156. doi:10.1186/s13023-018-0902-7.
- Hausmann JS, Dedeoglu F. Autoinflammatory Diseases. In: Neuro-Rheumatology: A Comprehensive Guide to Immune Mediated Disorders of the Nervous System. Cho, Bhattacharyya, and Helfgott, eds, 2019
- Hausmann JS, O’Hare, F. Transitioning pediatric patients with autoinflammatory diseases to adult providers. In: Auto-Inflammatory Syndromes: Pathophysiology, Diagnosis, and Management. Efthimiou, P (eds). Springer, 2019
- Hausmann, JS, Berna, R., Gujral, N. Ayubi S., Hawkins J., Brownstein JS., Dedeoglu F. Using Smartphone Crowdsourcing to Redefine Normal and Febrile Temperatures in Adults: Results from the Feverprints Study. Journal of General Internal Medicine (2018) 33: 2046. https://doi.org/10.1007/s11606-018-4610-8.
- Zhao Y, Wu EY, Oliver MS, Cooper AM, Basiaga ML, Vora SS, Lee TC, Fox E, Amarilyo G, Stern SM, Dvergsten JA, Haines KA, Rouster-Stevens KA, Onel KB, Cherian J, Hausmann JS, Miettunen P, Cellucci T, Nuruzzaman F, Taneja A, Barron KS, Hollander MC, Lapidus SK, Li SC, Ozen S, Girschick H, Laxer RM, Dedeoglu F, Hedrich CM, Ferguson PJ; CNO/CRMO study group the CARRA SVARD subcommittee. Consensus Treatment Plans for Chronic Nonbacterial Osteomyelitis Refractory to Nonsteroidal Anti-Inflammatory Drugs and/or with Active Spinal Lesions. Arthritis Care Res (Hoboken). 2017 Nov 7. doi: 10.1002/acr.23462.
- Manthiram K, Li SC, Hausmann JS, Amarilyo G, Barron K, Kim H, Nativ S, Lionetti G, Zeft A, Goldsmith D, Kimberlin D, Edwards K, Dedeoglu F, Lapidus S. (2017) Physicians' perspectives on the diagnosis and management of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Rheumatol Int 124:e721. doi: 10.1007/s00296-017-3688-3
- Batu E, Eroglu F, Tsoukas P, Hausmann JS, Bilginer Y, Kenna M, Licameli G, Fuhlbrigge R, Özen S, Dedeoglu F. Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) syndrome: analysis of patients from two geographic areas. Arthritis Care & Research, 2016 68: 1859-1865.
- Hausmann JS, Dedeoglu F. Autoinflammatory diseases in pediatrics. Dermatology Clinics, 2013: 31(3), 481–494. https://doi.org/10.1016/j.det.2013.04.003