Unusual presentation of more common disease/injury Jaundice and anaemia as presenting features of an incomplete autoimmune polyglandular syndrome type II Mainak Banerjee 1, Sumit Kumar Mondal 2, Indira Maisnam 3 and Apurba Kumar Mukherjee 2 1 Department [casereports.bmj.com]

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]

Here, we report a case of new diagnosis of APS-II in a young Hispanic man who presented with recurrent cardiac tamponade. [journals.aace.com]

A 57-year-old woman presented with acute progressive dyspnea and generalized weakness for several months. [synapse.koreamed.org]

• Anemia

  His renal function was normal, and he did not have many of the laboratory or clinical findings associated with an anemia of chronic disease. His anemia was responsive to superphysiologic doses of erythropoietin. [ncbi.nlm.nih.gov]

  The dosage of the intrinsic anti-factor antibody is positive in cases of pernicious anemia. [scielo.mec.pt]

  Blood examination revealed pancytopenia and macrocytic anemia, and she was diagnosed with pernicious anemia due to low vitamin B12 level. [ci.nii.ac.jp]

  This condition is characterized by autoimmune thyroiditis along with another organ -specific autoimmune disease. [1] [2] [3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjogren's [rarediseases.info.nih.gov]

• 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]

  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]

  Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. [ghr.nlm.nih.gov]

  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]

• Weight Loss

  At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. [semanticscholar.org]

  loss/ loss of appetite No H/o cold or heat intolerance No H/o weakness /blurring of vision 3. [slideshare.net]

  She reported weight loss and gradual increase in her skin pigmentation over a 1-year period. Aggressive fluid resuscitation was instituted. Hormonal tests showed primary adrenal insufficiency. [casereports.bmj.com]

  […] of appetite and weight loss, fatigue, low blood pressure and fatigue. [dermnetnz.org]

  The patients may experience hypotension, hypoglycaemia, weight loss, and cutaneous and mucosal pigmentation. [healthsupportyou.com]

• Autoimmune Polyendocrine Syndrome Type 2

  Patients with APS-1 are best followed by an endocrinologist and other specialists. [2] Most people with APS-1, develop earlier and more severe symptoms than people with a related disease known as autoimmune polyendocrine syndrome type 2 (APS-2). [rarediseases.info.nih.gov]

  syndrome type 2 IPEX syndrome Autoimmune polyendocrine syndrome References [ edit ] ^ a b c d "Polyglandular Autoimmune Syndrome, Type I - eMedicine Endocrinology". [en.wikipedia.org]

  The third type of autoimmune polyendocrine syndrome APS type 3 involves the same disorder of endocrine glands as type 2 but usually without any defect of adrenal cortex. [endocrine-abstracts.org]

  Polyglandular Type I Autoimmune Syndrome, Type 1 Autoimmune Polyglandular Syndrome, Type 2 Autoimmune Polyendocrine Syndrome, Type 2 Polyglandular Deficiency Syndrome, Type 3 Autoimmune Polyglandular Syndrome, Type 3 Polyglandular Autoimmune Syndrome [xpertdox.com]

  2 [Nom commun] Polyglandular Deficiency Syndrome, Type 2 [Nom commun] Schmidt Syndrome [Nom commun] Syndrome, Schmidt [Nom commun] Autoimmune Polyendocrine Syndrome, Type 2 [Nom commun] Diabetes Mellitus, Addison's Disease, Myxedema [Nom commun] Polyendocrinopathie [idref.fr]

• Asymptomatic

  Immunosuppressive therapy may be effective and, therefore, routine monitoring of renal function is warranted in asymptomatic individuals. [ncbi.nlm.nih.gov]

  APS is often preceded by an asymptomatic latency period of months or years following positive detection of antibodies [ 8 ]. [karger.com]

  Identification of these autoantibodies can be used to detect early presentation of asymptomatic components of the APS types. [liebertpub.com]

  No fluctuating skeletal muscle weakness, asymptomatic depigmented macules, and alopecia were observed in the patient. [journals.lww.com]

• Diarrhea

  Chronic diarrhea and steatorrhea occur frequently in patients with autoimmune polyglandular syndrome (APS) type I. Intestinal lymphangiectasia has been reported earlier as a cause of steatorrhea in a young girl with APS Type I. [ncbi.nlm.nih.gov]

  At 49 years of age she was admitted at the General Hospital for leukopenia, weight loss, tremors, anxiety and diarrhea. [semanticscholar.org]

  This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. [1] Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency [rarediseases.info.nih.gov]

  […] 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 pernicious anemia, gastrointestinal problems (malabsorption, diarrhea [medicinenet.com]

  Most develop diabetes and diarrhea and many die due to autoimmune activity against many organs. [en.wikipedia.org]

• Nausea

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

  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]

  After an episode of presyncope in the setting of worsening nausea and vomiting, he presented to an acute care center and was found to be profoundly hypoglycemic (glucose, 37 mg/dL) and hypotensive (88/46 mmHg). [amjmed.org]

  Symptoms may include weakness, muscle cramps, faintness, diarrhea, nausea and vomiting, low blood pressure and dehydration. [chop.edu]

• Constipation

  This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. [1] Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency [rarediseases.info.nih.gov]

  A 20-year-old man presented with a 1-week history of fatigue, sore throat, vomiting, and constipation. [amjmed.org]

  The less common symptoms of adrenal insufficiency are salt craving, abdominal pain, constipation, diarrhea and syncope. The patients may experience hypotension, hypoglycaemia, weight loss, and cutaneous and mucosal pigmentation. [healthsupportyou.com]

  There was no history of vomiting, diarrhoea, constipation, and fever. There was no history of similar episode in the past. [thetrp.net]

  The thyroid gland does not produce enough thyroid hormone, leading to fatigue, constipation, dry skin, and depression. The underactive gland can cause slowed development in children. Some types of hypothyroidism are present at birth. [webmd.com]

• Chronic Diarrhea

  Chronic diarrhea and steatorrhea occur frequently in patients with autoimmune polyglandular syndrome (APS) type I. Intestinal lymphangiectasia has been reported earlier as a cause of steatorrhea in a young girl with APS Type I. [ncbi.nlm.nih.gov]

  This syndrome can cause a variety of additional signs and symptoms, such as weak teeth (enamel hypoplasia) and chronic diarrhea or constipation. [1] Also, about 60% of the women with APS-1 who are younger than 30 years of age develop primary ovarian insufficiency [rarediseases.info.nih.gov]

  Sci. 1246 (2011) 77–91 16.  chronic diarrhea  result of hypocalcemia (hypoparathyroidism)  Diarrhea alternates with obstipation  Malabsorption and steatorrhea can be the result of exocrine pancreatic failureintestinal endocrine cells : targets of [slideshare.net]

  Other early signs and symptoms may include thin enamel on the teeth (enamel hypoplasia) and chronic diarrhea or constipation associated with difficulty in absorbing nutrients from food. [ghr.nlm.nih.gov]

  The mutated gene, FOXP3, is important in the regulation of immune cell function, and, as a result of the mutation, patients with IPEX suffer from a number of overlapping organ insufficiencies, such as eczema (inflammation of the skin, [10]), chronic diarrhea [asweetlife.org]

• Failure to Thrive

  Immunosuppressive agents : autoimmune Cyclosporin to treat  severe failure to thrive, keratoconjunctivitis, intestinal malabsorption and alopecia  pure red cell aplasia and clonal proliferation of large granular  Hypocalcemia  Autoimmune hepatitis [slideshare.net]

  The major clinical manifestations are type 1A diabetes (50%), enteropathy, failure to thrive, and frequent infections. 53, 54 Diagnosis of APS Types The diagnosis of APS types involves clinical suspicion based on family history or clinical recognition [liebertpub.com]

• Muscle Weakness

  Hypoparathyroidism can cause a tingling sensation in the lips, fingers, and toes; muscle pain and cramping; weakness; and fatigue. [ghr.nlm.nih.gov]

  No fluctuating skeletal muscle weakness, asymptomatic depigmented macules, and alopecia were observed in the patient. [journals.lww.com]

• Osteoporosis

  To minimize weight gain and osteoporosis, the goal is to use the smallest dose that relieves the patient's symptoms. [aafp.org]

• Alopecia

  Alopecia universalis is the rarest (estimated 1 per 100,000) and most severe form of alopecia areata. [academic.oup.com]

  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]

  This condition is characterized by autoimmune thyroiditis along with another organ -specific autoimmune disease. [1] [2] [3] The other autoimmune diseases may include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjogren's [rarediseases.info.nih.gov]

  She also had diabetes mellitus (DM type I) for last 3 years, for which she was taking insulin irregularly, and alopecia for last 6 months. There was no family history of similar disorder. On examination of the patient, she looked ill. [ijem.in]

  Other autoimmune diseases can include diabetes mellitus, pernicious anemia, vitiligo, alopecia, myasthenia gravis, and Sjögren’s syndrome. Symptoms Depends on the organ affected. Diagnosis/Treatment Depends on which organ is affected. [labs.pathology.jhu.edu]

• Purpura

  […] autoimmune adrenal insufficiency, type I autoimmune diabetes mellitus and autoimmune thyroid disease some other conditions such vitiligo, Hypergonadotrophic hypogonadism, chronic autoimmune hepatitis, hypophysitis, alopecia, myasthenia gravis, thrombocytic purpura [healthsupportyou.com]

  Associated non-endocrine autoimmune conditions may be present including vitiligo, celiac disease, alopecia, pernicious anemia, myasthenia gravis, idiopathic thrombocytopenic purpura, Sjogren’s syndrome, and rheumatoid arthritis. [hopkinsguides.com]

  […] to 11.0 Chronic atrophic gastritis, with or without pernicious anemia 4.5 to 11.0 Hypergonadotropic hypogonadism 4 to 9 Chronic autoimmune hepatitis 4 Alopecia 1 to 4 Hypophysitis Myasthenia gravis Rheumatoid arthritis Sjögren's syndrome Thrombocytic purpura [aafp.org]

  Other disorders associated with PGA-II Hypogonadism (usually autoimmune oophoritis) and hypopituitarism Idiopathic thrombocytopenic purpura Myasthenia gravis Parkinson's disease Vitiligo Alopecia 24. [slideshare.net]

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]

• Normocytic Anemia

  […] increase after ACTH or cosyntropin (Cortrosyn) administration Decreased basal levels of aldosterone Increased potassium level Elevated ACTH levels in primary adrenal insufficiency Mild to moderate increased calcium level (in 10 to 20 percent of patients) Normocytic [aafp.org]

[ edit ] Autoimmune polyendocrine syndrome type 1 treatment is based on the symptoms that are presented by the affected individual, additionally there is: [4] Hormone replacement Systemic antifungal treatment Immunosuppressive treatment See also [ edit [en.wikipedia.org]

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]

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]

Treatment Treatments of Type II autoimmune polyglandular syndrome depend on which endocrine gland is affected. [healthsupportyou.com]

We present the case of a 45-yr-old woman, affected by APS I, in chronic treatment with betamethasone. [ncbi.nlm.nih.gov]

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]

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]

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]

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

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]

The presence of antithyroid antibodies (e.g. anti-thyroglobulin antibodies, anti-microsomal antibodies, thyroid stimulating immunoglobulins) can be useful for confirming autoimmune etiology (see thyroid function tests module). [hopkinsguides.com]

PMID 15141045. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. ^ "Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. ^ "Autoimmune polyglandular syndrome [en.wikipedia.org]

[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]

PMID 15141045. ^ "Type III Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. ^ "Type II Polyglandular Autoimmune Syndrome: Background, Pathophysiology, Epidemiology". 2017-05-03. ^ "Autoimmune polyglandular syndrome [en.wikipedia.org]

[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]

[…] 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]

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]

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]

The disease prevents the damaged glands from producing the hormones needed to adequately regulate some body functions. This can create a life-threatening condition if allowed to progress untreated. [chop.edu]

Our patient opted for pericardiostomy to further prevent recurrent cardiac tamponade. [journals.aace.com]