Addisonian Crisis in a Patient with Schmidt's Syndrome

doi:10.15406/ghoa.2016.04.00093

eISSN: 2373-6372

Gastroenterology & Hepatology: Open Access

Case Report Volume 4 Issue 2

Addisonian Crisis in a Patient with Schmidt's Syndrome

Lynda Hoang,

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Hugo Rivera, Mehul Dalaut, Sulaiman Sultan

Internal Medicine Residency, Parkview Medical Center, USA

Correspondence: Lynda Hoang, Internal Medicine Residency, Parkview Medical Center, USA

Received: January 26, 2016 | Published: February 11, 2016

Citation: Hoang L, Rivera H, Dalaut M, Sultan S (2016) Addisonian Crisis in a Patient with Schmidt's Syndrome. Gastroenterol Hepatol Open Access 4(2): 00093. DOI: 10.15406/ghoa.2016.04.00093

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Introduction

Schmidt’s syndrome, also known as polyglandular syndrome type II, is a rare disease with potential life threatening consequences. It is characterized by multiple immune endocrinopathies, including Addison’s disease with thyroid disease and/or type I diabetes.^1–3 We describe a case of Addisonian crisis in a patient with known Addison’s disease. Interestingly, she also has type 1 diabetes mellitus and Graves’ disease but was never previously diagnosed with Schmidt’s syndrome.

Case

EPI: Exocrine Pancreatic Insufficiency; CCK: Cholecystokinin; HIV: Human Immunodeficiency Virus; FE-1: Fecal Elastase-1; PERT: Pancreatic Enzyme Replacement Therapy; PPI: Protompump Inhibitors; CF: Cystic Fibrosis; CFTR: Cystic Fibrosis Transmembrane Conductance Regulator; IBD: Inflammatory Bowel Disease; CD: Chron’s Disease; UC; Ulcerative Colitis; AIDS: Acquired Immunodeficiency Syndrome; CT: Computed Tomography; MRCP: Magnetic Resonance Cholangiopancreatography; S-MRCP: Secretin-Enhanced Magnetic Resonance Cholangiopancreatography; EUS: Endoscopic Ultrasound; FNA: Fine Needle Aspiration; ERCP: Endoscopic Retrograde Cholangiopancreatography; Fcht: Fecal Chymotrypsin; PLT: Pancreolauryl Test.

Discussion

Schmidt’s syndrome is a compendium of polyendocrine autoimmune diseases (Addison’s disease, autoimmune thyroiditis/Graves’ disease, type I diabetes) and can be associated with other non-endocrine autoimmune disorders, such as myasthenia gravis, Sjogren’s syndrome, and rheumatoid arthritis.³ It is autosomal dominant with variable penetrance and usually affects middle-aged females (female-to-male ratio 3:1).¹ The diagnosis of this condition can be challenging due to its rarity (1.4 - 4.5 cases/100,000 population), atypical presentation, and variance in clinical symptoms depending on the type and severity of gland involved. Thus, a high index of suspicion is warranted for early diagnosis and appropriate hormonal therapy.¹

Conclusion

In conclusion, we have identified a mouse model of craniofacial dysplasia in NF1, which will help identify the molecular mechanism and pathways responsible for the craniofacial deformity in NF1 syndrome. There are currently no treatments known that block or slow the progression of sphenoid wing dysplasia in NF1. The Nf1ob-/- mouse represents a novel and relevant mouse model that recapitulates the phenotype of sphenoid wing dysplasia in NF1. Nf1ob-/- mice provide an important tool with which to test treatments to prevent facial deformities in pediatric NF1 patients.