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WELCOME! If you’ve found this app, either you or someone you know or love has been recently diagnosed with a rare disease called Autoimmune Polyglandular Syndrome Type 1 (APS Type 1) also known as (APECED) Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.
MISSION : The APS Type 1 Foundation was established and gained non-profit status in March of 2014. The goal of the foundation is to support education, awareness, and fundraising for the limited number of physicians who are doing critical research on the “AIRE” Gene.
weburl : http://www.lipsum.com/
Treatment & Suggested Tests
RECCOMMENDATIONS from the National Institutes of Health (NIH) APECED team for the diagnostic surveillance of APECED patients. These surveillance recommendations are intended to provide a uniform platform for testing of patients. However, any specific hormonal insufficiency state will be managed by local endocrinologists, and the frequency of lab testing should be individualized according to the needs of each patient. TREATMENT Blood Tests • CBC with differential • Comprehensive metabolic panel • Liver function tests (every 6 months) • Magnesium • Phosphorus • PT/PTT• Prealbumin • Lipid panel • Immunoglobulin levels (IgG, IgA, IgM, IgE) • ESR and CRP • TSH and free T4 • Anti-thyroglobulin and thyroperoxidase antibodies • HgA1c • Vitamin B 12 and folate - If B 12 is less than 400 pg/mL, methylmalonic acid, homocysteine, and B 12 levels should be checked every 6 months. • Iron, transferrin, and ferritin • Cystatin C • Alkaline phosphatase, bone-specific • Vitamin C • Estradiol (females) or testosterone (males) • FSH and LH • ACTH • ACTH stimulation test (only in patients without adrenal insufficiency) • Plasma renin activity • Insulin-like growth factor-1 • Vitamin D, 25-hydroxy, total • Vitamin D, 125-dihydroxy • Zinc • Intrinsic factor antibody, blocking • 21-Hydroxylase antibody • GAD65 antibody assay Radiology and Imaging • Abdominal ultrasound to evaluate liver and kidneys • DEXA (bone density) scan once every 2 years to include (I) whole body composition and (2) radius, femur, spine-AP Urine Studies (at least once per year) • 24-hour urine testing: calcium, magnesium, phosphorus, creatinine clearance, protein • Spot urine testing: urinalysis, protein/ creatinine ratio, albumin/creatinine ratio, beta-2 microglobulin
TREATMENT Treatment is based on a person’s clinical condition and may include medications and other strategies to manage Candida, autoimmunity, and endocrine problems. Some treatments may be specific for APECED, while others are standard treatments for conditions experienced by APECED patients, such as hypoparathyroidism. Because APECED affects many of the body’s organs and tissues, optimal care requires a team of specialists working closely with the patient. The goal of treatment is to preserve the patient’s quality of life and recognize and address early signs of new disease symptoms, which may appear throughout life.
APECED Journal Publications
Gene Defect behind APECED: A New Clue to AutoimmunityBjörses, P, et al.Human Molecular Genetics 01 September, 1998 vol. 7 no. 10 1547-1553Monogenic model for autoimmune diseases molecular basis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)Halonen, M. Academic Dissertation, University of Helsinki, 2003Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy- candidiasis-ectodermal dystrophyFerre, E, et al.JCI Insight August 18, 2016 vol. 1 no. 13Autoimmune Polyendocrine SyndromesHusebye, ES,. et al.The New England Journal of Medicine March 26, 2018 vol. 378 no. 12 1132-1141
Genetics & Inheritance
INHERITANCE APECED is inherited in an autosomal recessive manner. In autosomal recessive inheritance, an affected person has a mutation on each of their two copies of the AIRE gene—one inherited from the mother and one from the father. Typically, both parents of an affected person carry one abnormal AIRE gene and are unaffected by the disease. When both parents are carriers, each child has a 25 percent, or one in four, chance of being affected by the disease. Sometimes the two copies of the AIRE gene that a child inherits have identical, or homozygous, mutations. Most North American APECED patients have different mutations on the two copies of AIRE, called compound heterozygous mutations. In either case, the patient is not able to produce functional AIRE protein. Recent evidence suggests that in a minority of APECED patients, the disease is inherited in an autosomal dominant manner. In autosomal dominant inheritance, an affected person has a mutation on one of their two copies of the AIRE gene. The mutation is inherited from a parent who is also affected by the syndrome. The other parent does not carry a mutation in the AIRE gene and is healthy. In this situation, each child has a 50 percent, or one in two, chance of being affected by the disease. Such muta- tions have been reported in European APECED patients, but so far have not been observed in North American APECED patients. About 15 to 20 percent of North American patients with APECED symptoms do not have detectable mutations in both copies of the AIRE gene, suggesting that other undiscovered genetic factors also are involved in the syn- drome. Understanding the genetic factors that contribute to APECED in families without AIRE gene mutations is an area of active research at NIH.
GENETICS APECED syndrome is caused by mutations in the gene AIRE. AIRE provides instructions for making a protein called the autoimmune regulator (AIRE), which helps control when other genes get “turned on,” or expressed. The AIRE protein is expressed in the thymus, a key immune organ located behind the breastbone. As its name suggests, AIRE plays an important role in regulating certain aspects of the immune system. In particular, AIRE helps teach immune cells how to distinguish the body’s own healthy cells and tissues. Mutations in the AIRE gene reduce or eliminate the function of the AIRE protein, making it more likely that the immune system will attack the body’s own healthy tissues. This auto- immunity underlies many APECED symptoms. Mutations of many types and in many locations along the length of the AIRE gene have been reported. Interestingly, different mutations have been foundto be somewhat specific to certain populations. For example, the nonsense mutation R257X is common among Finnish APECED patients; the deletion mutation 1094-1106del13 is common among British, Irish, Norwegian, and North American APECED patients; and the missense mutation Y85C frequently appears among Iranian Jews with APECED (see the Glossary for more information about mutation types). However, potential correlations between a specific AIRE mutation and a patient’s clinical status remain unclear.
Doctors may diagnose APECED based on genetic testing and the presence of at least two of the three classic components of the syndrome: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency (see the Glossary). However, these criteria are imperfect. Some patients have other symptoms for decades before the classic APECED symptoms become apparent or their doctor performs a targeted evaluation for APECED. The rarity of APECED and the variation in disease symptoms and severity among people with the disease contribute to the likely underdiagnosis of this condition. As researchers work toward a better characterization of APECED, the diagnostic criteria likely will evolve.
Glossary of Terms
Vitiligo - A chronic autoimmune condition in which the pigment of the skin is destroyed, leaving whitish patches.
Variability - Extent to which people with the same disease differ from each other.
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