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]

  • Congestive Heart Failure

    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]

  • 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]

  • Orthopnea

    The patient complained of orthopnea and palpitation as well as shortness of breath, which had been associated with poor oral intake, nausea, vomiting, and general weakness ongoing even after conservative treatments. [synapse.koreamed.org]

  • 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]

    Abdominal pain, nausea, and vomiting are common in DKA, along with above symptoms as presented in our patient. The most striking physical sign of pernicious anemia is pallor; however it was ruled out as MCV was normal. [thetrp.net]

  • Cardiomegaly

    Chest posterial-anterial showed cardiomegaly with high cardiothoracic ratio and increased bronchovascular markings on the both lung fields. [synapse.koreamed.org]

  • 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]

  • Microscopic Hematuria

    Serum levels of blood urea nitrogen and creatinine were 23.06 mg/dL and 4.09 mg/dL respectively, which were associated with proteinuria 551 mg/24 h and microscopic hematuria ranged 3( ), red blood cells 20 to 30/high power field in an urinalysis. [synapse.koreamed.org]

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]

  • Narrow QRS Complex

    Initial electrocardiogram (ECG) revealed sinus bradycardia fluctuating down to 30 beats per minute (bpm) with normal axis, narrow QRS complexes (combination of three of the graphical deflections seen on a typical ECG), and prolonged QT interval (measure [synapse.koreamed.org]

  • Anisocytosis

    A peripheral blood smear test revealed normochromic normocytic anemia, mild anisocytosis, and poikilocytosis with a few normoblasts. Erythocyte sedimentation rate and C-reactive protein were 54 mm/h and 9.662 mg/dL, respectively. [synapse.koreamed.org]

  • Poikilocytosis

    A peripheral blood smear test revealed normochromic normocytic anemia, mild anisocytosis, and poikilocytosis with a few normoblasts. Erythocyte sedimentation rate and C-reactive protein were 54 mm/h and 9.662 mg/dL, respectively. [synapse.koreamed.org]

  • Bicytopenia

    Although bone marrow aspiration smear revealed an adequate number of megakaryocytes, proliferated erythroid series, and suppressed myeloid with increased plasma cells as a finding for peripheral bicytopenia with agranulocytosis, bone marrow biopsy showed [synapse.koreamed.org]

  • Parathyroid Hormone Increased

    As for the renal failure with hematuria and tubular proteinuria, a computed tomography scan showed decreased both kidneys in size, the serum level of intact parathyroid hormone increased as high as 443.1 pg/mL ( Figure 3C and 3D ). [synapse.koreamed.org]

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]

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]

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]

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 is most often autoimmune. [merckmanuals.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]

 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]