Symptoma

Autoimmune Polyendocrine Syndrome Type 1

APS I

Other features include type 1 diabetes (typically presenting after childhood) alopecia, vitiligo, keratoconjunctivitis, gonadal failure, hypothyroidism, hepatitis, and malabsorptive diarrhoea. [diapedia.org]

Published on Oct 26, 2012 Autoimmune polyglandular syndrome type 1 Presented by Suparat Sirivimonpan, MD. [slideshare.net]

We report a patient diagnosed with PAS III-B after presenting with a DVT, a previously unreported initial manifestation of the disease. [edmcasereports.com]

It is inherited in an autosomal recessive pattern (two copies of an abnormal gene must be present in order for the syndrome to develop). [dermnetnz.org]

In this article we present a complex case of a patient affected by APS/MAS-3 with Graves’ disease and six other different clinical or latent autoimmune diseases. Case presentation associated to TADs (with the exception of AD) (Table 2) [3]. [docksci.com]

  • Fatigue

    […] of circulating calcium Addison disease, an insufficiency of the adrenal glands, presenting with changes in skin pigmentation, loss of appetite and weight loss, fatigue, low blood pressure and fatigue. [dermnetnz.org]

    We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 14, 2019 [patientslikeme.com]

    A 66-year-old female presented with fatigue, edema and jaundice. She had been diagnosed with Graves' disease at the age of 29 years but stopped going to the hospital for follow-up visits. [ci.nii.ac.jp]

    A 74-years-old woman came to the hospital due to fatigue, nausea, vomiting and skin hyperpigmentation that had begun two months before her presentation. [hippokratia.gr]

    However, most people with endocrine disease complain of fatigue and weakness. Blood and urine tests to check your hormone levels can help your doctors determine if you have an endocrine disorder. [webmd.com]

  • Prolonged Immobilization

    She denied recent prolonged immobilization and had no recent surgeries. Her family history was not significant for endocrinopathies, autoimmune diseases or coagulopathies. [edmcasereports.com]

  • Nausea

    A 74-years-old woman came to the hospital due to fatigue, nausea, vomiting and skin hyperpigmentation that had begun two months before her presentation. [hippokratia.gr]

    Deficiencies of these hormones may lead to weakness, muscle cramps, faintness, diarrhea, nausea and vomiting, low blood pressure, dehydration, and salt craving. [rarediseases.org]

    The patient received levothyroxine, rehydration, nutritional support, and antibiotics treatment, but both nausea and vomiting persisted. [journals.lww.com]

    A 32-year-old young female, P0 0, presented with fever, weakness, fatigue, dizziness, abdominal pain, nausea and vomiting for last 10 days. She was amenorrheic for last 10 years. [ijem.in]

  • Alopecia

    Case Report A 9-year-old female was admitted in the hospital because of alopecia. She had multiple minimal local alopecia and bilateral loss of eyelashes and eyebrows [Figure 1] and [Figure 2]. [jcor.in]

    DM-1, alopecia areata, autoimmune neutropenia, Sjo gren’s syndrome and chronic cutaneous lupus erythematosus [14]. [docksci.com]

    Other features of APS are total baldness (alopecia totalis), inflammation of the cornea and whites of the eye (keratoconjunctivitis), underdevelopment (hypoplasia) of the enamel of the teeth, childhood-onset moniliasis (yeast infection), juvenile-onset [medicinenet.com]

    Other features include type 1 diabetes (typically presenting after childhood) alopecia, vitiligo, keratoconjunctivitis, gonadal failure, hypothyroidism, hepatitis, and malabsorptive diarrhoea. [diapedia.org]

    DM-1, alopecia areata, autoimmune neutropenia, Sjögren’s syndrome and chronic cutaneous lupus erythematosus [ 14 ]. [link.springer.com]

  • Neglect

    Weak affinity receptors are not needed and the cell dies by neglect. Positive selection allows cells with useful capacity for antigen recognition to enter the circulation. [diapedia.org]

  • Dysphasia

    Residual dysphasia after severe hypoglycemia in a patient with immune-mediated primary adrenal insufficiency and type 1 diabetes mellitus: case report and systematic review of the literature. Endocr Pract 2007;13:384–388. PubMed Google Scholar 45. [link.springer.com]

Detailed workup to check for evolving APS II is prudent in a hypothyroid patient presenting with pallor and jaundice. [casereports.bmj.com]

His morning serum cortisol level was found to be undetectable and further workup confirmed autoimmune etiology of primary adrenal insufficiency. [journals.aace.com]

  • Microcytic Anemia

    Furthermore, on this occasion microcytic anemia with hyposideremia and thrombocytopenia (121,000/mm 3 ) were also demonstrated in addition to leukopenia. [link.springer.com]

    Furthermore, on this occasion microcytic anemia with hyposideremia and thrombocytopenia (121,000/mm3) were also demonstrated in addition to leukopenia. [docksci.com]

Inheritance is autosomal recessive. [1] Treatment may include hormone -replacement, and medication for candidiasis, as well as specific treatment of any complications. [rarediseases.info.nih.gov]

With the medium dose prednisolone in addition to levothyroxine and treatments for congestive heart failure and polymorphic VT, the symptoms and signs faded out gradually. [synapse.koreamed.org]

Standard Therapies Treatment Treatment of APS-1 is currently directed toward the specific diseases that are apparent in each patient. [rarediseases.org]

The prognosis (outlook) depends on whether the critical hormone deficiencies are remedied and especially whether the infections can be successfully controlled. [medicinenet.com]

The prognosis for APS1 is variable. Survival rates have improved greatly since the 1970s. Self-skin examination New smartphone apps to check your skin Learn more (Sponsored content) Related information References Aldasouqi SA; Medscape. [dermnetnz.org]

A long term follow-up and visual prognosis. Acta Opthalmol Scand 2000;78:532-5. 7. Rajendram R, Deane JA, Barnes M, Swift PG, Adamson K, Pearce S, et al. [jcor.in]

New treatments have favourably changed the prognosis. Its frequent association with autoimmune thyroid disease (ATD) has been previously acknowledged 1 – 3. ATD may also be associated with other autoimmune diseases. [erj.ersjournals.com]

According to Vasconcellos, the presence of sensory level denotes severe case of vitamin B12 deficiency and may be considered a finding associated with a bad prognosis. [scielo.mec.pt]

Hypothyroidism secondary to autoimmune disease, the predominant etiology, and PA were confirmed by the presence of antithyroglobulin and anti-intrinsic factor antibodies, respectively. [edmcasereports.com]

His morning serum cortisol level was found to be undetectable and further workup confirmed autoimmune etiology of primary adrenal insufficiency. [journals.aace.com]

The etiology of the ventricular tachycardia seen in this patient with a structurally normal heart on echocardiography remains unclear, but it may have been due to electrolyte abnormalities. [pubs.sciepub.com]

The etiology is most often autoimmune. [merckmanuals.com]

 variable etiology Chronic atrophic gastritis and pernicious anemia  autoantibodies specific for parietal cells and intrinsic factor Autoimmune hepatitis  autoantibodies specific for liver-expressed antigens P450 1A2 and AADC  In most cases chronic [slideshare.net]

[Polyglandular autoimmune syndrome type II: epidemiology and forms of manifestation]. Dtsch Med Wochenschr. 1999;124(49):1476-81. [PMID:10629665] Comment: Reviews epidemiology of PAS II. Eisenbarth G, Wilson P, Ward F, et al. [hopkinsguides.com]

[Polyglandular autoimmune syndrome type II: epidemiology and forms of manifestation]. Dtsch. Med. Wochenschr. 1999 Dec 10; 124 (49):1476-81. [ PubMed : 10629665 ] 6. Cutolo M. Autoimmune polyendocrine syndromes. [ncbi.nlm.nih.gov]

Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. Endocr Rev 2008;29:697–725. PubMed CrossRef Google Scholar 33. Pfannenstiel P, Hotze LA, Schaller B. [link.springer.com]

[…] autoimmune diseases present in our patient (in italics), with other possible diseases present in a patient with APS/MAS-3 Subsequently some authors proposed a simpler classification in APS type 1 and type 2, because of similar genetic background and pathophysiology [link.springer.com]

Subsequently some authors proposed a simpler classification in APS type 1 and type 2, because of similar genetic background and pathophysiology between APS type 2, type 3 and type 4. [docksci.com]

[PMID:19411300] Comment: Provides review of the pathophysiology and role of genetic testing in PAS. Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med. 2004;350(20):2068-79. [PMID:15141045] Dittmar M, Kahaly GJ. [hopkinsguides.com]

There is significant variability in reported prevalence ranging from 1:1000 to 1:20,000 in the general population. [1] It is around 3 times more common in women. [5] Typical age of onset is between 20 to 40 years.[2] Pathophysiology Polyglandular autoimmune [ncbi.nlm.nih.gov]

Patients with DVT secondary to HH should undergo further screening for the presence of autoimmune disease in addition to treatment with B12 supplementation and anticoagulation to prevent recurrent thromboembolic events. [edmcasereports.com]

Introduction: Maintenance of Immune Tolerance The maintenance of immunity is based upon the ability of our immune systems to generate an almost infinite repertoire of T cell responses against foreign antigens whilst preventing the development of responses [diapedia.org]

The Lipid Research Clinics Coronary Primary Prevention Trial Results, II: the relationship of reduction in incidence of coronary heart disease to cholesterol lowering. ‎ [books.google.es]

This functioning and malfunctioning of AIRE in APS1 patients has shed some light on the manner in which the body prevents autoimmunity under normal circumstances. [asweetlife.org]

This prevents the translation of aberrant transcripts and limits the synthesis of abnormal proteins [30], such as the transcripts generated from the mutated allele. [journals.plos.org]