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Disease Profile
Hyper-IgD syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Infancy
ICD-10
E85.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Hyper IgD syndrome; Hyperimmunoglobulinemia D and periodic fever syndrome; Periodic fever Dutch type;
Categories
Congenital and Genetic Diseases; Immune System Diseases; Metabolic disorders;
Summary
Hyper IgD
Symptoms
- Cold chills
- Swollen
lymph nodes (lymphadenopathy) - Abdominal pain
- Diarrhea
- Headache
- Joints pain
- Increased size of the liver (hepatomegaly) and/or increased size of the spleen (splenomegaly)
- Skin lesions
- Canker sores (aphthous ulcers)
Most episodes last several days and occur periodically throughout life.[1] The frequency of episodes and their severity vary greatly from person to person.[1][3] The first attack usually takes place during infancy.[5] Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist.[3] The attacks can occur spontaneously or be triggered by vaccinations, infections, and/or emotional or physical stress. Growth and development is usually not affected.[5][1] Disease complications sometimes seen in adults include amyloidosis, abdominal adhesions, and very rarely joint
Some people seem to have an intermediate form that is more severe than hyper IgD syndrome but less severe than classic mevalonate aciduria. These people suffer from a neurological illness with or without periodic fever.[2]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abdominal pain |
Pain in stomach
Stomach pain
[ more ] |
0002027 |
Arthralgia |
Joint pain
|
0002829 |
Elevated |
High ESR
|
0003565 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Hepatomegaly |
Enlarged liver
|
0002240 |
Increased circulating IgA level | 0003261 | |
Lymphadenopathy |
Swollen lymph nodes
|
0002716 |
Myalgia |
Muscle ache
Muscle pain
[ more ] |
0003326 |
Recurrent fever |
Intermittent fever
Increased body temperature, episodic
Episodic fever
[ more ] |
0001954 |
30%-79% of people have these symptoms | ||
Joint inflammation
|
0001369 | |
Diarrhea |
Watery stool
|
0002014 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Papule | 0200034 | |
Recurrent aphthous stomatitis |
Recurrent canker sores
|
0011107 |
Urticaria |
Hives
|
0001025 |
Vasculitis |
Inflammation of blood vessel
|
0002633 |
5%-29% of people have these symptoms | ||
Acrocyanosis |
Persistent blue color of hands, feet, or parts of face
|
0001063 |
0001251 | ||
Erythema | 0010783 | |
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Peritonitis | 0002586 | |
Purpura |
Red or purple spots on the skin
|
0000979 |
Rod-cone dystrophy | 0000510 | |
0001250 | ||
1%-4% of people have these symptoms | ||
Chills | 0025143 | |
Chronic diarrhea | 0002028 | |
Chronic oral candidiasis |
Chronic oral thrush
|
0009098 |
Elevated urine mevalonic acid | 0032638 | |
Febrile seizure (within the age range of 3 months to 6 years) |
Fever induced seizures
|
0002373 |
Headache |
Headaches
|
0002315 |
Enlarged liver and spleen
|
0001433 | |
Increased circulating IgD level | 0410246 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Lymphadenitis |
Inflammation of the lymph nodes
|
0002840 |
Molluscum contagiosum | 0032163 | |
Oral ulcer |
Mouth ulcer
|
0000155 |
Renal angiomyolipoma | 0006772 | |
Serositis | 0045073 | |
Skin rash | 0000988 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Leukocytosis |
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ] |
0001974 |
Neutrophilia |
Increased blood neutrophil counts
|
0011897 |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Optic disc pallor | 0000543 | |
Vertigo |
Dizzy spell
|
0002321 |
Cause
Treatment
In 2015, a group of experts from different countries proposed recommendations for the management of several anti-inflammatory diseases including hyper IgD
- NSAIDs may provide symptom relief during inflammatory attacks
- Short-term glucocorticoids, with or without NSAIDs, may be effective for alleviating inflammatory attacks
- Short-term IL-1 blocking agents (anakinra or canakinumab) may be effective for ending inflammatory attacks and should be considered to limit or prevent steroid side effects or as a maintenance therapy
- If one IL-1-blocking agent at an adequate dose is ineffective or not well tolerated, a switch to another IL-1-blocking agent or another biological agent (including TNF-α blockers (etanercept (Enbrel), rituximab, o infliximab) or IL-6 blockade (tocilizumab) should be considered.
- If TNF-α blocker is ineffective or intolerable, a switch to another biological agent (including an IL-1or IL-6-blocking agent) should be considered.
In selected cases with severe disease that does not improve, and poor quality of life, referral to a specialist center for consideration of allogeneic hematopoietic stem cell transplantation is recommended.[7]
Consultations with the following specialists may be helpful:
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Canakinumab(Brand name: Ilaris) Manufactured by Novartis Pharmaceuticals Corporation
FDA-approved indication: Treatment forFamilial Mediterranean Fever (FMF) in adult and pediatric patients; forTumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) in adult and pediatric patients; and for Hyperimmunoglobulin D Syndrome (HIDS)/Mevalonate Kinase Deficiency (MKD) in adult and pediatric patients.
National Library of Medicine Drug Information Portal
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Mevalonic aciduria (MVA; see this term) is also caused by a mutation in the MVK gene, but it results in a nearly complete MVK deficiency. Other autoinflammatory disorders like familial Mediterranean fever (FMF), TNF receptor-associated periodic syndrome (TRAPS) and Muckle-Wells syndrome (see these terms) should be eliminated. In children, the clinical picture of HIDS can be indistinguishable from periodic fever aphtosis pharyngitis adenitis (PFAPA) syndrome.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
FMF & AID Global Association
Schüracherstrasse 25a
8306 Brüttisellen
Switzerland
Telephone: +41 76 415 4010
E-mail: [email protected]
Website: https://www.fmfandaid.org/ -
Rare Autoinflammatory Conditions Community UK (RACC-UK)
United Kingdom
Telephone: 07377091552
E-mail: [email protected]
Website: https://www.raccuk.com/
Learn more
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.
Where to Start
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- The Doctor's Doctor provides information about hyper IgD syndrome. Click on the link to view this information.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Hyper-IgD syndrome.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Hyper-IgD syndrome. Click on the link to view a sample search on this topic.
Selected Full-Text Journal Articles
- The Orphanet Journal of Rare Diseases has published an article with information on this condition. This journal is affiliated with the Orphanet reference portal for information on rare diseases and orphan drugs.
References
- Hyper IgD Syndrome. National Organization for Rare Disorders (NORD). 2017; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1169/viewAbstract.
- Jos W M & van der Meer AS. The challenge of autoinflammatory syndromes with an emphasis on hyper-IgD syndrome. Rheumatology. 2016; 55(2):23-29. https://www.ncbi.nlm.nih.gov/pubmed/27856657.
- Shinawi M, Scaglia F. Hereditary Periodic Fever Syndromes. Medscape Reference. 2017; https://emedicine.medscape.com/article/952254-overview.
- Hyper-IgD Syndrome. Online Mendelian Inheritance in Man (OMIM). 2013; https://omim.org/entry/260920.
- Frenkel J, Simon A. Hyperimmunoglobulinemia D with recurrent fever. Orphanet. 2011; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=343.
- Sönmez HE & Özen S. A clinical update on inflammasomopathies. Int Immunol. April 6, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28387826.
- Ozen S & Demir S. Monogenic Periodic Fever Syndromes: Treatment Options for the Pediatric Patient. Paediatr Drugs. May 11, 2017; https://www.ncbi.nlm.nih.gov/pubmed/28497352.
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