A Case of Polyglandular Autoimmune Syndrome - Type II
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A Case of Polyglandular Autoimmune Syndrome - Type II

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    A Case of Polyglandular Autoimmune Syndrome - Type II A Case of Polyglandular Autoimmune Syndrome - Type II Presentation Transcript

    • INTERESTING CASE OF HEPATOMEGALY PROF S.SUNDAR’S UNIT Dr.A.NILAVAN PG
      • 18 year old female was referred from GH for evaluation of hepatomegaly
      • H/o abdominal pain
      • No h/o fever/ yellowish urine or eyes/ pruritis/clay coloured stools
      • No H/o joint pain or rash
      • No H/o polyuria /polydipsia
      • No h/o vomiting/hemetemesis/melena/loose stools
      • No H/o weight loss/ loss of appetite
      • No H/o cold or heat intolerance
      • No H/o weakness /blurring of vision
      • Past H/o
      • Not a k/c/o hypertension/DM / bronchial
      • asthma
      • No H/o blood transfusion in the past
      • Personal H/o
      • Mixed diet
      • attained menarche at 17 yrs
      • cycles regular 3/28
      • Family H/o
      • Non consanguinous marriage
      • One younger brother and sister- both normal
      • General examination
      • Pt concious, oriented ,afebrile
      • no icterus pallor/ cyanosis/ clubbing/lymphadenopathy
      • no features of chronic liver disease
      • no KF ring
      • Alopecia+
      • Hyperpigmentation over forehead, around eyebrows, tongue,palm,buccal mucosa
      • BP: 90/70 mmhg
      • Systemic examination
      • CVS: S1 ,S2 +
      • No murmur
      • RS : NVBS +
      • No added sounds
      • P/A : soft , firm liver palpable around4cm below RCM , Liver span 20cm
      • No free fluid/ splenomegaly
      • CNS: NFND
    • INVESTIGATION Hb 13.5g/dl TC 6300 cells per cu. Mm DC P 62 L34M4 ESR 30 mm/hr PLATLET COUNT 240000 cell per cu.mm HAEMATOCRIT 36 UREA 17mg/dl CREATININE 0.7mg/dl SODIUM 134 meq/l POTTASIUM 5.6meq/ l CHLORIDE 104 meq/l CALCIUM 8.8mg/dl PHOSPHORUS 4.1mg/dl RBS(mg/dl) 356
    • CONT… 12/12/10 15/12/10 18/12/10 22/12/10 FBS (mg/dl) 440 301 192 148 PPBS( mg/dl) 546 361 355 172
    • Total bilirubin 0.77mg/dl Direct bilirubin 0.32mg/dl AST 441u/l ALT 348u/l SAP 230u/l GGT 235u/l PT 17sec INR 1.7
      • Urine routine
      • sugar: 3+
      • albumin: nil
      • deposits: 2-3 epithelial cells
      • Bile salts& Bile pigment : negative
      • ketones : negative
      • 24 hrs urinary protein :120 mg
      • ECG : NSR, WNL
      • Xray chest pa view : normal study
      • Echo : normal study
      • USG abdomen : hepatomegaly, portal vein normal size, spleen, pancreas normal
      • Fundus : normal
      • Slit lamp examination : normal
      • Viral markers : negative
      • HIV ,ELISA : Non reactive
      • UGI SCOPY : normal
    • PROVISIONAL DIAGNOSIS
      • DM? type 1
      • Autoimmune hepatitis
      • Haemochromatitis
      • Wilson s disease
    • FURTHER INVESTIGATIONS
      • Serum iron -80micro g/dl
      • Serum ferritin -200 ng /ml
      • Serum transferrin – 320 mg/dl
      • Total iron binding capacity- 300 micro g/dl
      • ANA –negative
      • Anti LKM-1 -negative
      • AntiSLA –negative
      • Serum ceruloplasmin- 25 mg/dl
      • 24 hrs urinary copper- 30 microg/day
      • T3 -60 ng/dl
      • T4 free- 0.4ng/ml
      • TSH -23micro Iu/ml
      • TPO antibody- positive
      • GAD antibody- positive
      • Islet cell antibody- positive
      • Anti mitochondrial antibody- negative
      • Anti smooth muscle antibody -positive
      • Serum ACTH-92pg/dl
      • Serum cortisol-6microgram/dl. After cosyntropin stimulation increased to 14 microgram/dl
    • FINAL DIAGNOSIS
      • Polyglandular autoimmune syndrome type II (PGA-II)
    • TREATMENT
      • INSULIN
      • ELTROXIN
      • FLUDROCORTISONE
      • PREDNISONE
      • UDCA
    • Polyglandular autoimmune syndrome type II (PGA-II)
      • Most common of the immunoendocrinopathy syndromes.
      • Autoimmune Addison's disease
      • Thyroid autoimmune diseases
      • Type 1 diabetes mellitus
      • Primary hypogonadism, myasthenia gravis, and celiac disease
      • The most frequent clinical combination association is Addison's disease and Hashimoto's thyroiditis
    • Adulthood, usually around the third and fourth decade. Middle-aged women Associated with HLA-DR3 and/or HLA-DR4 haplotypes, Pattern of inheritance is autosomal dominant with variable penatrance.
      • Type 1 diabetes mellitus
        • Symptoms - Polyuria, polydipsia, polyphagia, unexplained weight loss, intermittent blurred vision, and lethargy
        • Signs - Depend on the severity; consist of poor skin turgor, orthostasis, and hypotension
      • Hashimoto's thyroiditis (chronic lymphocytic thyroiditis)
        • Symptoms - cold intolerance, fatigue, somnolence, poor memory, constipation, menorrhagia, myalgias, and hoarseness
        • Signs - Slow tendon reflexes, bradycardia, facial and periorbital edema, dry skin and nonpitting edema, carpal tunnel syndromes, deafness, and pericardial or pleural effusions
        • Seronegative arthritis
      • Graves disease
        • Symptoms - Heat intolerance, weight loss, weakness, palpitations, oligomenorrhea, and anxiety
        • Signs - Brisk tendon reflexes, fine tremor, proximal weakness, stare and eyelid lag, exophthalmos, atrial fibrillation, and sinus tachycardia  
      • Addison's disease (primary adrenal insufficiency)
        • Symptoms - Anorexia, nausea, vomiting, weight loss, weakness, and fatigue
        • Signs - Chronic hyperpigmentation of creases and scars, as well as orthostatic hypotension  
      • Celiac disease
      • Weight loss, steatorrhea, bloating, cramping, and malnutrition
      • Pernicious anemia
      • Pallor, jaundice, ataxia, glossitis, impaired cognition, impaired vibratory and position sense, and impaired cognition
      • Other disorders associated with PGA-II 
        • Hypogonadism (usually autoimmune oophoritis) and hypopituitarism
        • Idiopathic thrombocytopenic purpura
        • Myasthenia gravis
        • Parkinson's disease
        • Vitiligo
        • Alopecia
    • DIFFERENTIAL DIAGNOSIS
      • DiGeorge syndrome
      • Kearns – Sayre syndrome
      • Wolfram’s syndrome
      • Cong . Rubella
      • IPEX syndrome
    • Laboratory Studies
      • Serum autoantibodies screen
          • 21-hydroxylase
          • 17-hydroxylase
          • Thyroid peroxidase (TPO)
          • Thyroid-stimulating immunoglobulins (TSI)
          • Glutamic acid decarboxylase and islet cells
          • Antitissue transglutaminase antibodies
          • Immunoglobulin-A (IgA) endomysial antibodies and antigliadin antibodies.
          • Parietal cell and anti-intrinsic factor antibodies
          • Gonadotropins [FSH], [LH]) and appropriate sex hormones (testosterone, estradiol)
          • TSH, free thyroxine (T4), and free triiodothyronine (T3)
          • Adrenocorticotropic hormone (ACTH) level and Cortrosyn-stimulation test
          • Plasma renin activity and serum electrolytes
          • Calcium, phosphorus, magnesium, and albumin
          • Fasting blood glucose
          • Complete blood count (CBC) with mean cell volume (MCV) and vitamin B-12 levels
    • Medical Care
      • With the exception of celiac disease and Graves disease, the mainstay of treatment is primarily hormonal replacement therapy
      • T4 therapy can precipitate adrenal crisis if adrenal insufficieny is present. So before starting thyroid hormone patient should be screened for adrenal insufficiency and if present should be treated with glucocorticoids.
      • A decreasing insulin requirement in patients with type 1 diabetes mellitus can be one of the earliest indications of adrenal insufficiency or renal dysfunction. This can occur before the development of hyperpigmentation or electrolyte abnormalities.
      • Hashimoto's thyroiditis (Hashimoto's disease)
        • aim is to achieve euthyroidism.
        • Thyroid-stimulating hormone (TSH) is used to assess the level of euthyroidism. After 6 weeks of therapy, measure plasma TSH. Adjust the dose in increments of 12-25 mcg at intervals of 6-8 weeks until TSH is normal. Thereafter, annual measurements can be taken to ensure compliance and prevent overtreatment.
      • Type 1 diabetes mellitus
        • It requires lifelong treatment with exogenous insulin.
        • A roughly estimated dose for otherwise healthy individuals is approximately 0.6-1.2 U/kg/d (35-50 U/d in adults)
      • Pernicious anemia
        • Replacement with cyanocobalamin is the goal of therapy.
        • A typical schedule is 1 mg IM once a day for 7 days, and then weekly for 1-2 months or until the hemoglobin is normalized. Long-term therapy is 1 mg/mo.
        • Symptomatic hypokalemia may occur within 48 hours of initiating therapy, and supplemental potassium may be needed
      • Graves disease
        • Antithyroid medications in older patients (>60 y) or in those with underlying heart disease. When euthyroidism is achieved, radioactive iodine is then administered.
        • Ablation by radioactive iodine administration is the therapy of choice by most patients (young and healthy).
        • The restoration of euthyroidism using antithyroid drugs takes several months. Patients are evaluated at 6-week intervals by assessing the clinical findings and serum free T4 and free T3.
      • Addison's disease
        • Hydrocortisone and fludrocortisone.
        • Adjust the hydrocortisone dose depending on patient's symptoms. Monitor the activity levels of plasma renin to assess the efficacy of treatment with fludrocortisone and serum electrolytes.
      • Celiac disease
        • Place patients on a gluten-free diet.
        • Depending on the degree of malabsorption, patients also may require iron, folate, calcium, or vitamin supplementation.
        • In patients whose conditions are severe or refractory, a trial of prednisone (10-20 mg) may be effective.
      • Screening of patients every 1-2 years, until they are aged 50 years.
        • Screening includes an assessment of autoantibodies, electrolytes, thyroid function tests, liver function tests, vitamin B-12 levels, Cortrosyn-stimulation test, fasting blood glucose, plasma renin activity, CBCs, gonadotropins, and testosterone/estradiol.
      • Family members should be strongly considered for genetic counseling and should undergo necessary screening for autoimmune diseases.
    • Polyglandular autoimmune syndrome type I (PGA-I)
      • Childhood.
      • Autosomal recessive pattern, with variable inheritance
      • No HLA association and,
      • Equal sex incidence.
      • Mucocutaneous candidiasis
      • Hypoparathyroidism
      • Primary adrenal insufficiency
      • Other associated disorders
      • hypogonadism
      • hypothyroidism
      • pernicious anemia
      • celiac disease
      • autoimmune hepatitis
      • alopecia
      • vitiligo
      • THANK YOU