Concluded Case

Polyendocrine syndrome ?APS II SCHMIDT SYNDROME

63yr old Lady, farmer, with Addison's, hypothyroidism, diabetes with COVID 19 Chief Complaints Fever, cough since 5days History Past history : She is absolutely normal 13 yrs ago when she got her 1st health issue. Her complaint was vomiting's after food intake and weakness Blackish discoloration of the face followed by the body. Loss of appetite. Loss of weight since 1 yr Then she was diagnosed with Addison and hypothyroidism She was put on thyroxine 25microgram OD and prednisolone 5mg BD. After 3yrs in routine checkups, she was diagnosed with type2 diabetes mellitus for which she is on OHA for 3 years and later on insulin Biphasic 30U in the morning, 25U at night. Now she presented with COVID symptomatology. Family history: Younger Sister with diabetes and hypothyroidism on insulin and thyroxine. 3brothers with diabetes on OHA. No health issues in father, mother and other relatives No issues in her children Vitals PR 76 /min BP 120/70mmhg Physical Examination No pallor, icterus, cyanosis, clubbing, pedal edema No swelling over neck Diagnosis Please discuss APS

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Thanks for tagging me Dr Srujana. Auto immune polyendocrine syndrome APS II or Schidmt syndrome or Carpenter syndrome. This is a triad of Addison's disease, Autoimmune Thyroid disease and Type 1 DM. This is an autoimmune disease with polygenic inheritance with significant heterogenecity due to multiple genetic loci and environmental factors affecting multiple endocrine organs responsible for organ specific damage. Usually clustering of more than 2 endocrine disorders we will find in APS II or PAS II. The exact cause is not known . Probable causes may be genetic, viral( congenital rubella) and environmental factors ( Immune stimulation by certain dietary proteins). Major histocompatibility complex genes located on chromosome 6 have been implicated in organ specific damage in APS II. HLA -DR3 and HLA -DR4 and HLA-DQ 2 and HLA-DQ8 haplotypes increase predisposition to APS II. NonHLA genes can also predispose to APS II are CD25 -Interleukin- 2 receptor, Cytotoxic T lymphocyte protein 4 ( CTLA-4) and protein tyrosine protein phosphatase, non receptor type 22 ( PTPN22). Prevalence is 1 in 1000 to 1 in 20000 in general population. It is around 3 times more common in women than men. Typical age of onset is between 20 to 40 years Pathophysiology is autoimmune in origin causes lymphocytic infiltration causing organ specific damage. Symptoms are 1)Weight loss 2)Fatigue 3)Nausea 4)Vomiting 5)Generalized weakness 6)Anorexia 7)Abdominal pain 8)Diarrhoea 9)Polyuria 10)Polydypsia Signs are 1) Mucosal and cutaneous hyperpigmentation ,low blood sugars and orthostatic hypotension if presented with Addison's disease. 2) Polyuria, polydypsia and hyperglycemia if diagnosed with Type 1 DM. 3) Bradycardia and delayed tendon reflexes if presented with Hypothyroidism. 4) Some times they presented as adrenal crisis like hypotension, tachycardia and altered mental status like in shock. Coming to the diagnosis 1) Morning serum cortisol level less than 6 mcg/ dL Or Serum cortisol less than 18 mcg/ dL at 60 minutes after ACTH stimulation test using 250 mcg of IV or IM bolus of Cosyntropin. 2) Presence of 21 - Hydoxylase or 17 - Hydroxylase auto antibodies confirm autoimmune adrenalitis. 3) Serum T3 ,T4, TSH levels and Anti thyroglobulin antibodies, Thyroid microsomal antibodies, thyrotropin receptor antibodies diagnose autoimmune Thyroid disease. 4) Type 1 DM can be diagnosed by typical symptoms like polyuria, polydypsia and hyperglycemia . Fasting and post prandial blood sugars HbA1C Serum C peptide levels less than 0.6 ng/ ml. Presence of GAD antibodies, anti islet cell antibodies, etc. Diagnosis of APS II may be delayed due to heterogeneous presentation. 5) USG Thyroid to diagnose autoimmune Hashimotos thyroiditis. 6) CT/ MRI scan of abdomen and pelvis for adrenal and pancreatic pathology. Coming to the treatment Replacement with hormones as you know Levothyroxine Insulin Corticosteroids. Look for other associated autoimmune endocrine disorders as you said in your previous slides. All family members especially siblings should be screened for APS II as their history suggest more towards this syndrome. Coming to the chest x-ray typical picture of Covid 19 is seen Manage all comorbidities along with Covid 19 treatment as the morbidity and mortality risk will be more in autoimmune diseases.

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Thanks for tagging me Dr Srujana. Auto immune polyendocrine syndrome APS II or Schidmt syndrome or Carpenter syndrome. This is a triad of Addison's disease, Autoimmune Thyroid disease and Type 1 DM. This is an autoimmune disease with polygenic inheritance with significant heterogenecity due to multiple genetic loci and environmental factors affecting multiple endocrine organs responsible for organ specific damage. Usually clustering of more than 2 endocrine disorders we will find in APS II or PAS II. The exact cause is not known . Probable causes may be genetic, viral( congenital rubella) and environmental factors ( Immune stimulation by certain dietary proteins). Major histocompatibility complex genes located on chromosome 6 have been implicated in organ specific damage in APS II. HLA -DR3 and HLA -DR4 and HLA-DQ 2 and HLA-DQ8 haplotypes increase predisposition to APS II. NonHLA genes can also predispose to APS II are CD25 -Interleukin- 2 receptor, Cytotoxic T lymphocyte protein 4 ( CTLA-4) and protein tyrosine protein phosphatase, non receptor type 22 ( PTPN22). Prevalence is 1 in 1000 to 1 in 20000 in general population. It is around 3 times more common in women than men. Typical age of onset is between 20 to 40 years Pathophysiology is autoimmune in origin causes lymphocytic infiltration causing organ specific damage. Symptoms are 1)Weight loss 2)Fatigue 3)Nausea 4)Vomiting 5)Generalized weakness 6)Anorexia 7)Abdominal pain 8)Diarrhoea 9)Polyuria 10)Polydypsia Signs are 1) Mucosal and cutaneous hyperpigmentation ,low blood sugars and orthostatic hypotension if presented with Addison's disease. 2) Polyuria, polydypsia and hyperglycemia if diagnosed with Type 1 DM. 3) Bradycardia and delayed tendon reflexes if presented with Hypothyroidism. 4) Some times they presented as adrenal crisis like hypotension, tachycardia and altered mental status like in shock. Coming to the diagnosis 1) Morning serum cortisol level less than 6 mcg/ dL Or Serum cortisol less than 18 mcg/ dL at 60 minutes after ACTH stimulation test using 250 mcg of IV or IM bolus of Cosyntropin. 2) Presence of 21 - Hydoxylase or 17 - Hydroxylase auto antibodies confirm autoimmune adrenalitis. 3) Serum T3 ,T4, TSH levels and Anti thyroglobulin antibodies, Thyroid microsomal antibodies, thyrotropin receptor antibodies diagnose autoimmune Thyroid disease. 4) Type 1 DM can be diagnosed by typical symptoms like polyuria, polydypsia and hyperglycemia . Fasting and post prandial blood sugars HbA1C Serum C peptide levels less than 0.6 ng/ ml. Presence of GAD antibodies, anti islet cell antibodies, etc. Diagnosis of APS II may be delayed due to heterogeneous presentation. 5) USG Thyroid to diagnose autoimmune Hashimotos thyroiditis. 6) CT/ MRI scan of abdomen and pelvis for adrenal and pancreatic pathology. Coming to the treatment Replacement with hormones as you know Levothyroxine Insulin Corticosteroids. Look for other associated autoimmune endocrine disorders as you said in your previous slides. All family members especially siblings should be screened for APS II as their history suggest more towards this syndrome. Coming to the chest x-ray typical picture of Covid 19 is seen Manage all comorbidities along with Covid 19 treatment as the morbidity and mortality risk will be more in autoimmune diseases.

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