Hyperigd syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. This page is about a rare disease, the name of the disease is hyperimmunoglobulinemia d with periodic fever syndrome. The trip database provides clinical publications about evidence. Xlinked hyper igm syndrome is a condition that affects the immune system and occurs almost exclusively in males. Mevalonate kinase deficiency mkd also known as hyper igd syndrome hids mkd hids is an inherited auto inflammatory disease that is most often caused by an inherited autosomal recessive gene mutation of the mevalonate kinase gene mvk, from both parents. The other forms of hyper igm syndrome have only been described in the medical literature in a very small number of people. Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger.
We present a case of severe hids in a young girl, whose symptoms started in the neonatal period with hepatomegaly, hepatitis, thrombocytopenia, and conjugated hyperbilirubinemia. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. Hyper igd syndrome hids is due to mutations of the gene coding for mevalonate kinase, an enzyme that has a pivotal role in the synthesis of isoprenoids and cholesterol. If a patient presents with symptoms suggestive of the syndrome, igd and iga should be measured. Hyper igd syndrome hids is part of this spectrum and is characterized by episodes or attacks of fever associated with other symptoms including joint pain arthralgia. Hyper immunoglobulin a in the hyperimmunoglobulinemia d syndrome. No more than 300 cases have been described worldwide. The hyperimmunoglobulinemia d syndrome hids is an autosomal recessive disorder characterized by recurrent febrile attacks with abdominal, articular, and skin manifestations.
Mevalonate kinase deficiency or hyperigd syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. The child was born to healthy, unrelated italian parents. Mevalonate kinase deficiency is a spectrum of disease, ranging from mild to severe complications. The international hyperigd syndrome registry, based in nijmegen, the netherlands, in which clinical information is collected from physicians worldwide, currently holds data. Nummular keratopathy in a patient with hyperigd syndrome. Since birth i have had symptoms of hyper i g d syndrome, however i wasnt diagnosed until i was 16 years old. These attacks can occur spontaneously or be triggered by infections. Other symptoms may include headache, joint pain, arthritis of the large joints, and reddish spots macules and bumps on the. Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper igd and periodic fever syndrome. Hyper igd syndrome hids hyper igd syndrome is an autosomal recessive disease characterized by recurrent fever attacks, preceded by chills and malaise. Results a 2yearold portuguese boy presented with recurrent episodes of fever and malaise, cervical lymphadenopathy and hepatosplenomegaly since 12 months of age. Can genetics help diagnose the hyper igd and periodic fever syndrome. Introduction hyperimmunoglobulinaemia d with periodic fever syndrome is more commonly known as hyperigd syndrome or hids. Apart from elevated immunoglobulin d igd levels 100 iuml, there are high iga levels in the majority of cases.
Prototypic autoinflammatory syndromes are fmf, hyper igd syndrome also known as mevalonate kinase deficiency, tnf receptorassociated periodic syndrome and cryopyrinassociated periodic syndrome. Access to this free content requires users to be registered and logged in. Yes are approved or conditionally approved by new york state and do not require an nys npl exemption. The frequency of the disease, even in the netherlands, is very low. However, because these symptoms, such as a high fever, are typical in early childhood, many doctors and parents may not recognize the symptoms as being abnormal until the child is older. The hyper igm syndromes higm are a group of primary immune deficiency disorders characterized by defective cd40 signaling by b cells affecting class switch recombination and somatic hypermutation. Download fulltext pdf download fulltext pdf hyper igd syndromemevalonate kinase deficiency.
People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Hyper igd syndrome prof ariyanto harsono md phd spak 2. A rare genetic disorder where high levels of the immunoglobulin d cause recurring episodes of fever as well as other symptoms. Antiinterleukin 6 receptor therapy for hyperigd syndrome.
A case report this is a case report of 8yearold girl from saudia arabia with hids. The duration and frequency of episodes is variable. More detailed information about the symptoms, causes, and treatments of hyper igd syndrome is available below. Hyperigd syndrome hids mim 260920, also known as mevalonate kinase deficiency, is an autosomal recessively inherited disorder, but it is far less prevalent than fmf.
Hyperimmunoglobulin a in the hyperimmunoglobulinemia d. We report the case of a hyper igd syndrome, which unlike its name, is not always characterized by an elevation of igd. This includes new insights into pathophysiology, treatment, and the clinical phenotype linked to the genetic defect. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Mevalonate kinase deficiency or hyper igd syndrome is a hereditary autoinflammatory syndrome caused by mutations in the mevalonate kinase gene. Nonsteroidal antiinflammatory drugs in the treatment of. People with hids have persistently high levels of an antibody known as immunoglobulin d igd. A 14yearold boy with hyperimmunoglobulinemia d syndrome hids presented with photophobia and ocular irritation concomitant with disease exacerbation.
Symptoms are usually present before the age of one. These findings point to an activation of the cytokine network, and this suggests that these inflammatory mediators may contribute to the symptoms of the hyper igd syndrome. Hyperigd syndrome pediatrics msd manual professional. Hyperigd syndrome genetic and rare diseases information. Hyper igm syndrome type 2 is estimated to affect fewer than 1 in 1,000,000 people in the general population. What is the prevalence of hyper igd syndrome hyperimmunoglobulinemia d with recurrent fever hids. Hyper igd syndrome is a rare autosomal recessive disorder in which recurring attacks of chills and fever begin during the first year of life. Links to hyperigd syndrome hids research and information. The autosomal recessive forms of hyper igm syndrome are extremely rare. After the age of eight years she had her last febrile attack was complicated by severe status epilepticous and multiorgan failure which leads to her death 5the diagnosis of hyper igd syndrome for the. How many people does hyper igd syndrome hyperimmunoglobulinemia d with recurrent fever hids affect.
Can genetics help diagnose the hyperigd and periodic. Hyper igd syndrome hids is a rare metabolic autoinflammatory syndrome characterised by recurrent febrile episodes, accompanied by various inflammatory symptoms. Although a few randomised controlled trials have been performed in this disorder, there are no straightforward treatment protocols and none of the potential therapies are registered for this indication. He was found on exam to have significant nummular keratitis. The hyper igm syndromean evolving story pediatric research. It is considered an autoinflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Hyperigd syndrome hids is a rare, severe hereditary autoinflammatory disease characterised by periodic fevers, elevated serum igd levels and a wide range of symptoms.
Molecular analysis of mvk mutations and enzymatic activity in hyper igd and periodic fever syndrome. Hyperigd syndrome new york clients tests displaying the status new york approved. Hyperigd syndrome symptoms, diagnosis, treatments and. I have spent a lot of time in and out of great ormond street hospital london, bradford, leeds, airedale in yorkshire. The condition is hard to diagnose because there are several types of periodic fever as well as multiple causes of recurring fevers.
They pointed out that hyperigd syndrome almost always develops in infancy. Ab0044 hyper igd syndrome treatment with hydroxychloroquine. Hereditary periodic fever with systemic amyloidosis. Mevalonate kinase deficiency nord national organization. Article pdf available in seminars in immunopathology 374 may 2015 with 259 reads. Episodes usually last 4 to 6 days and may be triggered by physiologic stress, such as vaccination or minor trauma.
Hyper igd syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency. Hyper igd syndrome hids is part of this spectrum and is characterized by episodes or attacks of fever associated with other symptoms including joint pain arthralgia, muscle pain myalgia, skin rash and abdominal pain. Hyperimmunoglobulinaemia d with periodic fever syndrome mim 260920 is more commonly known as hyper igd syndrome or hids. Poster presentation open access interleukin 1 blockade. Hyper igm syndromes nord national organization for rare. Hyperimmunoglobulinaemia d with periodic fever syndrome. This syndrome seems to be more prevalent in caucasians, especially in western europeans. Case report of a new mutation of the mvk gene in a child with a severe hyper igd syndrome. Hyper igd syndrome hids, mevalonate kinase deficiency. To report a case of recurrent nummular keratitis in a pediatric patient with hyperimmunoglobulinemia d syndrome. Hyper immunoglobulinemia d syndrome in a saudi girl. In 1984, researchers identified a type of periodic fever that they called the hyperigd and periodic fever syndrome hids.
Background hyper igd syndrome is a minor form of mevalonate kinase deficiency caused by a its gene mutation and considered an autoinflammatory disease inherited in an autosomal recessive manner, characterised by periodic episodes of fever, arthralgia, lymphadenopathy, skin rash, headaches, and abdominal pain. A rare genetic disorder characterized by recurring attacks of chills and fever that usually start before the first birthday and last for 4 to 6 days, usually accompanied by swollen glands in the neck and abdominal pain with vomiting or diarrhea. Here we report our experience with a child with hids treated with different drug regimens. The disease affects people of all ethnic groups, but is relatively common among the dutch.
Poster presentation open access interleukin 1 blockade withcanakinumab for hyper igd syndrome hids j brunnner1, e binder1, d karall1, j zschocke2, c fauth2 from 8th international congress of familial mediterranean fever and systemic autoinflammatory diseases. It is a rare inherited autoinflammatory syndrome that presents with recurrent episodes of fever, skin rash, abdominal pain, headaches and enlarged lymph glands that begin in infancy. Hyperigd syndrome an overview sciencedirect topics. Xlinked hyper igm syndrome genetics home reference nih. Skin lesions are common in the hyper igd syndrome suggesting that they are a true manifestation of the.
884 1018 1552 803 478 1193 144 657 1478 156 539 171 1509 1475 1264 299 753 310 1194 596 1286 1279 331 1414 1358 559 1163 1122 35 1336 333 38 859 1413 717 1391