Hereditary periodic fever syndrome

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:324924
Who is this for?
Show terms as
2Active trials20Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Hereditary periodic fever syndromes are a group of rare inherited conditions that cause repeated episodes of fever and inflammation with no clear infection or other obvious cause. These episodes come and go in a somewhat predictable pattern, which is why they are called 'periodic.' The body's immune system becomes overactive during these flares, causing widespread inflammation that can affect many parts of the body including the joints, skin, abdomen, and the lining around the heart and lungs. During a fever episode, a person may experience high temperatures, severe abdominal pain, joint swelling, skin rashes, and swollen lymph nodes. Between episodes, most people feel completely well. The length and frequency of episodes vary depending on the specific type of periodic fever syndrome a person has. Some episodes last a few days, while others can last weeks. This group includes several distinct conditions such as Familial Mediterranean Fever (FMF), TNF Receptor-Associated Periodic Syndrome (TRAPS), Mevalonate Kinase Deficiency (MKD, also called Hyper-IgD Syndrome), and Cryopyrin-Associated Periodic Syndromes (CAPS). Treatment has improved greatly in recent years, with anti-inflammatory medications and targeted biologic drugs helping many patients control their symptoms and prevent serious long-term complications like amyloidosis, a dangerous buildup of protein in the organs.

Key symptoms:

Recurring high fevers that come and goSevere abdominal pain during fever episodesJoint pain and swellingSkin rashes or hivesSwollen and tender lymph nodesChest pain caused by inflammation around the lungs or heartHeadachesMuscle achesEye redness or inflammationMouth soresFatigue during and after episodesNausea and vomitingFeeling completely well between episodes

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

FDA & Trial Timeline

2 events
Mar 2025Ilaris NIS in Korea

Novartis Pharmaceuticals

TrialRECRUITING
Mar 1994Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics

National Human Genome Research Institute (NHGRI)

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Hereditary periodic fever syndrome.

2 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

2 recruitingView all trials with filters →
Other2 trials
Familial Mediterranean Fever and Related Disorders: Genetics and Disease Characteristics
Actively Recruiting
PI: Benjamin D Solomon, M.D. (National Human Genome Research Institute (NHGRI)) · Sites: Washington D.C., District of Columbia; Baltimore, Maryland +3 more · Age: 0115 yrs
Ilaris NIS in Korea
Actively Recruiting
PI: Novartis Pharmaceuticals (Novartis Pharmaceuticals) · Sites: Seoul · Age: 2100 yrs

Specialists

20 foundView all specialists →
ZL
Zhanguo Li
Specialist
PI on 7 active trials819 Hereditary periodic fever syndrome publications
HM
Hirsh D Komarow, M.D.
BETHESDA, MD
Specialist
PI on 3 active trials
MM
Monique Hinchcliff, MD
NORTH HAVEN, CT
Specialist
PI on 2 active trials
EM
Eric Hachulla, MD,PhD
Specialist
PI on 3 active trials
FM
Fereydoun Davatchi, MD
Specialist
PI on 4 active trials
FM
Farhad Shahram, MD
Specialist
PI on 1 active trial
KM
Kazuoki Kondo, MD
Specialist
PI on 2 active trials
TM
Toshifumi Hibi, MD
Specialist
PI on 1 active trial
SM
Shunsei Hirohata, MD
Specialist
PI on 1 active trial
YP
Yoshiaki Ishigatsubo, MD, Ph.D
Specialist
PI on 1 active trial
BM
Bahar Sadeghi, MD
Specialist
PI on 1 active trial
KM
Kalpana Manthiram, M.D.
BETHESDA, MD
Specialist
PI on 1 active trial
NP
NOEL NN Nicolas, MD PhD
PHOENIX, AZ
Specialist
PI on 1 active trial
MM
Maryam Noroozian, MD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Hereditary periodic fever syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Hereditary periodic fever syndromeForum →

No community posts yet. Be the first to share your experience with Hereditary periodic fever syndrome.

Start the conversation →

Latest news about Hereditary periodic fever syndrome

No recent news articles for Hereditary periodic fever syndrome.

Follow this condition to be notified when news becomes available.

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which specific type of hereditary periodic fever syndrome do I or my child have, and how does that affect treatment choices?,Should I have genetic testing, and should other family members be tested too?,What is the risk of developing amyloidosis, and how will we monitor for it?,Is colchicine or a biologic medication the right first treatment for my situation?,How will we know if the treatment is working, and what are the signs that we need to change it?,Are there any clinical trials or new treatments I should know about?,What should I do during a severe fever episode — when should I go to the emergency room?

Common questions about Hereditary periodic fever syndrome

What is Hereditary periodic fever syndrome?

Hereditary periodic fever syndromes are a group of rare inherited conditions that cause repeated episodes of fever and inflammation with no clear infection or other obvious cause. These episodes come and go in a somewhat predictable pattern, which is why they are called 'periodic.' The body's immune system becomes overactive during these flares, causing widespread inflammation that can affect many parts of the body including the joints, skin, abdomen, and the lining around the heart and lungs. During a fever episode, a person may experience high temperatures, severe abdominal pain, joint swel

Are there clinical trials for Hereditary periodic fever syndrome?

Yes — 2 recruiting clinical trials are currently listed for Hereditary periodic fever syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Hereditary periodic fever syndrome?

20 specialists and care centers treating Hereditary periodic fever syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.