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Serositis

MedGen UID:
20711
Concept ID:
C0036749
Pathologic Function
Synonym: Serositides
SNOMED CT: Serositis (370469003)
 
HPO: HP:0045073
Monarch Initiative: MONDO:0043786

Definition

Inflammation in any serous cavity. [from HPO]

Conditions with this feature

Hyperimmunoglobulin D with periodic fever
MedGen UID:
140768
Concept ID:
C0398691
Disease or Syndrome
Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often.\n\nMevalonate kinase deficiency has additional signs and symptoms, and the severity depends on the type of the condition. There are two types of mevalonate kinase deficiency: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).\n\nDuring episodes of fever, people with HIDS typically have enlargement of the lymph nodes (lymphadenopathy), abdominal pain, joint pain, diarrhea, skin rashes, and headache. Occasionally they will have painful sores called aphthous ulcers around their mouth. In females, these may also occur around the vagina. Rarely, people with HIDS develop a buildup of protein deposits (amyloidosis) in the kidneys that can lead to kidney failure. Fever episodes in individuals with HIDS can be triggered by vaccinations, surgery, injury, or stress. Most people with HIDS have abnormally high levels of immune system proteins called immunoglobulin D (IgD) and immunoglobulin A (IgA) in the blood. It is unclear why some people with HIDS have high levels of IgD and IgA and some do not. Elevated levels of these immunoglobulins do not appear to cause any signs or symptoms. Individuals with HIDS do not have any signs and symptoms of the condition between fever episodes and typically have a normal life expectancy.\n\nPeople with MVA have signs and symptoms of the condition at all times, not just during episodes of fever. Affected children have developmental delay, problems with movement and balance (ataxia), recurrent seizures (epilepsy), progressive problems with vision, and failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MVA typically have an unusually small, elongated head. In childhood or adolescence, affected individuals may develop eye problems such as inflammation of the eye (uveitis), a blue tint in the white part of the eye (blue sclera), an eye disorder called retinitis pigmentosa that causes vision loss, or clouding of the lens of the eye (cataracts). Affected adults may have short stature and may develop muscle weakness (myopathy) later in life. During fever episodes, people with MVA may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, and skin rashes. Children with MVA who are severely affected with multiple problems may live only into early childhood; mildly affected individuals may have a normal life expectancy.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

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Int Urol Nephrol 2022 Feb;54(2):357-364. Epub 2021 May 10 doi: 10.1007/s11255-021-02873-z. PMID: 33970417
Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Ben-Chetrit E, Yazici H
Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):108-112. Epub 2017 Jun 9 PMID: 28598780
Raja M, Raja S
Curr Drug Saf 2014;9(3):163-95. doi: 10.2174/1574886309666140428115040. PMID: 24809463
Onen F
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Diagnosis

Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Lee JJY, Schneider R
Pediatr Clin North Am 2018 Aug;65(4):691-709. doi: 10.1016/j.pcl.2018.04.005. PMID: 30031494
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364
Onen F
Rheumatol Int 2006 Apr;26(6):489-96. Epub 2005 Nov 10 doi: 10.1007/s00296-005-0074-3. PMID: 16283319
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Therapy

Hagerty BL, Pegna GJ, Xu J, Tai CH, Alewine C
Biomolecules 2020 Jun 28;10(7) doi: 10.3390/biom10070973. PMID: 32605175Free PMC Article
Ozdogan H, Ugurlu S
Presse Med 2019 Feb;48(1 Pt 2):e61-e76. Epub 2019 Jan 25 doi: 10.1016/j.lpm.2018.08.014. PMID: 30686512
Giacomelli R, Ruscitti P, Shoenfeld Y
J Autoimmun 2018 Sep;93:24-36. Epub 2018 Aug 1 doi: 10.1016/j.jaut.2018.07.018. PMID: 30077425
Lee JJY, Schneider R
Pediatr Clin North Am 2018 Aug;65(4):691-709. doi: 10.1016/j.pcl.2018.04.005. PMID: 30031494
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364

Prognosis

Bendstrup E, Lynn E, Troldborg A
Semin Respir Crit Care Med 2024 Jun;45(3):386-396. Epub 2024 Mar 28 doi: 10.1055/s-0044-1782653. PMID: 38547915
Nie P, Hu L, Li B, Lou Y, Luo M, Wang Y, Lu X, Luo P
Int Urol Nephrol 2022 Feb;54(2):357-364. Epub 2021 May 10 doi: 10.1007/s11255-021-02873-z. PMID: 33970417
Giacomelli R, Ruscitti P, Shoenfeld Y
J Autoimmun 2018 Sep;93:24-36. Epub 2018 Aug 1 doi: 10.1016/j.jaut.2018.07.018. PMID: 30077425
Cimaz R
Autoimmun Rev 2016 Sep;15(9):931-4. Epub 2016 Jul 6 doi: 10.1016/j.autrev.2016.07.004. PMID: 27392503
Kucuk A, Gezer IA, Ucar R, Karahan AY
Acta Medica (Hradec Kralove) 2014;57(3):97-104. doi: 10.14712/18059694.2014.47. PMID: 25649364

Clinical prediction guides

Nie P, Hu L, Li B, Lou Y, Luo M, Wang Y, Lu X, Luo P
Int Urol Nephrol 2022 Feb;54(2):357-364. Epub 2021 May 10 doi: 10.1007/s11255-021-02873-z. PMID: 33970417
Hagerty BL, Pegna GJ, Xu J, Tai CH, Alewine C
Biomolecules 2020 Jun 28;10(7) doi: 10.3390/biom10070973. PMID: 32605175Free PMC Article
Giacomelli R, Ruscitti P, Shoenfeld Y
J Autoimmun 2018 Sep;93:24-36. Epub 2018 Aug 1 doi: 10.1016/j.jaut.2018.07.018. PMID: 30077425
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Recent systematic reviews

Dyball S, Rodziewicz M, Mendoza-Pinto C, Bruce IN, Parker B
Autoimmun Rev 2022 Nov;21(11):103184. Epub 2022 Aug 27 doi: 10.1016/j.autrev.2022.103184. PMID: 36031048
Parperis K, Kyriakou A, Voskarides K, Chatzittofis A
Semin Arthritis Rheum 2022 Jun;54:151997. Epub 2022 Mar 19 doi: 10.1016/j.semarthrit.2022.151997. PMID: 35344734
Delplanque M, Ducharme-Bénard S, Moguelet P, Chasset F, Grateau G, Georgin-Lavialle S, Bachmeyer C
Scand J Rheumatol 2022 Jan;51(1):42-49. Epub 2021 Jun 23 doi: 10.1080/03009742.2021.1904588. PMID: 34159892
Boodhoo KD, Liu S, Zuo X
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