The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Arthralgia | Very frequent (present in 80%-99% of cases) |
| Elevated erythrocyte sedimentation rate | Very frequent (present in 80%-99% of cases) |
| Episodic fever | Very frequent (present in 80%-99% of cases) |
| Gastrointestinal hemorrhage | Very frequent (present in 80%-99% of cases) |
| Hepatomegaly | Very frequent (present in 80%-99% of cases) |
| Increased IgA level | Very frequent (present in 80%-99% of cases) |
| Lymphadenopathy | Very frequent (present in 80%-99% of cases) |
| Myalgia | Very frequent (present in 80%-99% of cases) |
| Arthritis | Frequent (present in 30%-79% of cases) |
| Diarrhea | Frequent (present in 30%-79% of cases) |
| Migraine | Frequent (present in 30%-79% of cases) |
| Papule | Frequent (present in 30%-79% of cases) |
| Recurrent aphthous stomatitis | Frequent (present in 30%-79% of cases) |
| Urticaria | Frequent (present in 30%-79% of cases) |
| Vasculitis | Frequent (present in 30%-79% of cases) |
| Acrocyanosis | Occasional (present in 5%-29% of cases) |
| Ataxia | Occasional (present in 5%-29% of cases) |
| Erythema | Occasional (present in 5%-29% of cases) |
| Growth delay | Occasional (present in 5%-29% of cases) |
| Intestinal obstruction | Occasional (present in 5%-29% of cases) |
| Limitation of joint mobility | Occasional (present in 5%-29% of cases) |
| Peritonitis | Occasional (present in 5%-29% of cases) |
| Purpura | Occasional (present in 5%-29% of cases) |
| Rod-cone dystrophy | Occasional (present in 5%-29% of cases) |
| Seizures | Occasional (present in 5%-29% of cases) |
| Autosomal recessive inheritance | - |
| Headache | - |
| Hypermelanotic macule | - |
| Leukocytosis | - |
| Nyctalopia | - |
| Optic disc pallor | - |
| Skin rash | - |
| Splenomegaly | - |
| Vertigo | - |
| Vomiting | - |
There is no cure for hyper IgD syndrome and currently no established treatment. Management is focused on supportive care. Some patients have responded to high-dose prednisone. Simvastatin, Anakinria (an IL-1 receptor antagonist) and TNF inhibitors have recently shown some success in controlling inflammatory attacks.[2][4]
Consultations with the following specialists may be helpful: dermatologist, rheumatologist, and infectious disease specialist (to evaluate periodic fever).[2]
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Autoinflammation 2013: The Seventh International Congress of FMF and Autoinflammatory Diseases Wednesday, May 22, 2013 -
Sunday, May 26, 2013
Location:
Lausanne,
Switzerland
Description: The goals of this meeting include the exchange of clinical and scientific information regarding the autoinflammatory diseases. This is likely to result in improvements in the diagnosis and treatment of these diseases. Past Congresses have resulted in new scientific collaborations, development of registries for patients with specific autoinflammatory disorders, and the initiation of multicenter clinical trials.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): National Human Genome Research Institute, Office of Rare Diseases Research
Autoinflammation 2010, the Sixth International Conference on FMF and other Autoinflammatory Diseases
Thursday, September 2, 2010 -
Monday, September 6, 2010
Location: Royal Tropical Institute,
Amsterdam,
The Netherlands
Description: Autoinflammation 2010 was the sixth conference in a series that started more than 10 years ago in Jerusalem. The first conference focused primarily on familial Mediterranean fever (FMF), but soon other hereditary periodic fever syndromes were included. These syndromes were the first to be recognized as autoinflammatory disorders. Recent years have seen an exciting development of scientific knowledge on inflammation and its regulation, and these rare disorders have played a major role in this development. Experts in the field of autoinflammatory disorders, both clinicians and basic scientists, from all over the world met in Amsterdam to exchange research results and opinions on clinical practice. The scientific program included plenary talks, meet-the-expert sessions, interactive workshops, and laptop presentations. Topics ranged from FMF and the other hereditary autoinflammatory diseases to acquired autoinflammatory disorders, such as gout, and from pathogenesis and genetics to clinical phenotype and therapy. Also included was a 1-day program for patients.
Contact: Daniel Kastner, M.D., Ph.D., 301-496-8364kastnerd@nih.gov
Co-funding Institute(s): Office of Rare Diseases Research, National Institute of Arthritis and Musculoskeletal and Skin Diseases
- 82KB)
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
Are there certain foods that can trigger a flare up of hyper IgD syndrome? See answer
Can you please provide me with general information about hyper IgD syndrome? See answer
