Autoimmune Polyglandular Syndrome Type 1

Abstract

Autoimmune Polyglandular Syndrome (APS) Type 1 is a rare hereditary disorder that damages organs in the body. This disease entity is the result of a mutation in the AIRE gene. It is characterized by three classic clinical features - hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis. For a patient to be diagnosed as having APS Type 1 syndrome at least two of these features needs to be present. The third entity may develop as the disease progresses. We report a case of a 35-year-old female patient with a history of seizure from the age of 11 years, who was managed with anticonvulsant drugs. With worsening of the seizure episodes, patient was diagnosed to have hypoparathyroidism together with the manifestations of oral candidiasis, nails dystrophy, enamel hypoplasia, and hypogonadism. A diagnosis of APS-1 was considered. The facility for genetic analysis of the AIRE gene mutation was not accessible, as the test costs were prohibitive and not affordable for the patient. Patient management was directed to treating individual disease components. However, cerebral and dental changes were irreversible.

Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review

“…Table 2 illustrates study characteristics for Ns-HypoPT studies (Humphreys, 1939; Hansted and Holst, 1952; Hinrichs, 1956; Thew and Goulston, 1962; Pisanty, 1966; Sjöberg, 1966; Greenberg et al, 1969; Hermans et al, 1969; Moshkowitz et al, 1969; Riley, 1969; Nally, 1970; Frensilli et al, 1971; Lovestedt, 1971; Assif, 1977; Pisanty and Garfunkel, 1977; Myllärniemi and Perheentupa, 1978; Lindeberg, 1979; Goepferd and Flaitz, 1981; Illum et al, 1981; Jensen et al, 1981; Nikiforuk and Fraser, 1981; Børglum Jensen et al, 1983; Harrell, 1983; Ingemarsson, 1984; Lyles et al, 1985; de Carvalho et al, 1986; Porter and Scully, 1986; Ahonen et al, 1990; Porter et al, 1992, 1995; Walls and Soames, 1993; Hershkovitz et al, 1995; Lukinmaa et al, 1996; Firth et al, 1997; Jaquez et al, 1997; Perniola et al, 1998; Fukui et al, 2000; Winer and Merke, 2000; Klingberg et al, 2002, 2005, 2007; Al-Malik, 2004; López-Jornet et al, 2005; Oberoi and Vargervik, 2005; Yang et al, 2005; da Silva Dalben et al, 2008; McGovern et al, 2008; Kelly et al, 2009; Pavlic and Waltimo-Siren, 2009; Toka et al, 2010; Wasersprung et al, 2010; Heliövaara et al, 2011; Kollios et al, 2011; Oberoi et al, 2011; Nordgarden et al, 2012; Ponranjini et al, 2012; El Batawi, 2013; Kamarthi et al, 2013; Nortjé, 2013; Ali et al, 2014; Srirangarajan et al, 2014; Laccetta et al, 2015; Matthews-Brzozowska et al, 2015; Bruserud et al, 2016; Ferre et al, 2016; Bjanid et al, 2017; Lewyllie et al, 2017; Mohsenipour et al, 2017) with subgroups A–E corresponding to the classifi...…”

“…Standardized terminology and criteria for diagnosis of enamel hypoplasia and enamel opacities was not used in the majority of the included studies in the present review. In addition, there was no distinction between retention and impaction, as these words seemed to be used synonymously (Illum et al, 1981; Jensen et al, 1981; Ponranjini et al, 2012; Delantoni et al, 2017). Furthermore, standard protocol was lacking for the overall oral examination in the majority of the publications.…”

Practice parameter for the diagnosis and management of primary immunodeficiency

“…(C) APECED, also known as autoimmune polyglandular syndrome type 1 (APS1), is an autosomal recessive disorder with a highly variable clinical phenotype. [477][478][479][480] A high prevalence has been identified in 3 ethnic groups, Sardinians, Finns, and Iranian Jews, although lower prevalence can be found in multiple other ethnic groups. Candidiasis is commonly seen in most patients but is rare in Iranian Jews carrying the Y85C mutation.…”

“…(C) APECED (APS1) is caused by a mutation in the gene AIRE. [477][478][479][480] More than 60 AIRE mutations have been reported and often cluster by population group. There are some correlates between mutation and clinical presentation (eg, the lower incidence of candidiasis among Iranian Jews with the Y85C mutation), but the structure-function correlation is not well established for most of the features of the disease.…”

“…Immunomodulating drugs can suppress clinical manifestations, but care must be taken to avoid severe infectious complications caused by underlying host defense abnormalities. 479,487,488 Management of AIRE requires thorough evaluation of infectious, endocrinologic, and gastrointestinal manifestations. The evaluation of patients with APECED is complex because of the large number of potentially affected organs.…”