Autoimmune Polyglandular Syndrome Diagnosed 18 Years after the Initial Presentation of Hypoparathyroidism

Presentation Number: SAT-0750
Date of Presentation: June 21st, 2014

Fatima Al Kaabi*1, Nagi Mohammed2 and Muhammad Houri3
1AL Ain Hospital, Al Ain, United Arab Emirates, 2ICLDC, AlAin, 3Al Ain Hospital, Al Ain, United Arab Emirates

Abstract

Introduction  

          The autoimmune polyglandular syndromes (APS) include a wide spectrum of autoimmune disorders involving multiple organs. Clinicians should suspect this diagnosis in patients who have multiple autoimmune disorders especially the rare ones like hypoparathyroidism. The time lag between different manifestations could be years. So follow up is crucial.

Case: 25-year-old female student had ( APS-1) diagnosed in adulthood. Her initial presentation was at age 7 with symptomatic hypocalcemia related to primary hypoparathyroidism, followed by alopecia and recurrent mucocutaneous candidiasis. Few years later, she developed primary hypothyroidism. Up to this point the diagnosis of APS was still not made.

She presented to our hospital in January 2012, with fatigue, nausea, vomiting hyperglycemia and dehydration. Physical exam was remarkable for signs of dehydration and chronic nail changes. She had no hyperpigmentation

Diabetic ketoacidosis was diagnosed and treatment initiated.

Because of past medical Hx, Adrenal insufficiency (AI) was suspected and confirmed by short Synachten test. Basal cortisol 10 nmol/l   (0.36 mcg/dl) after synacthen 250 mcg IV, cortisol was   256 nmol/L and   189 nmol/L at 30 and 60 minutes respectively. Baseline ACTH <0.03  ( normal range<= 14.0 Pmol/L) Pituitary MRI was unremarkable.

She was discharged in stable condition on  hyrodcotisone and insulin.

Few weeks later, a pulmonologist advised her-by error- to taper hydrocortisone down to 5 mg daily. Within days she presented with symptoms and signs of impending adrenal crisis, potassium was 5.3 mmol/l .Alsosterone  0.05 ( normal range 0.08-0.44 nmol/L)   Renin > 230.40 milli IU/L  (  normal range 7.00-42.60 )  and ACTH   was elevated at 25 pmol/l consistent with a diagnosis of primary AI.

Currently she is on  Prednisolone,Fludrocortisone, Levothyroxine and Aspart via insulin pump with HbA1c of 6.6 % .

Discussion:

Our patient presented with DKA and Addison’s disease to complete the spectrum of APS type I. The initially low ACTH, was likely a result of mishandled specimen . Even though she had four different manifestation of APS in childhood, APS was not suspected.

(APS1), also known as the autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, is a rare autosomal recessive disorder and it is appears to be due to mutations in (AIRE) gene. Diagnosis of APS involves serological measurement of organ-specific autoantibodies and functional testing. Treatment is based on supplementation of the various deficiencies. Clinicians should have high level of suspicion of this disease when patient present with more than one autoimmune manifestation espicially rare ones. For Instance patients who have autoimmune hypoparathyroidism should be monitored for and counseled about the possibility of other endocrinopathies.

 

Nothing to Disclose: FA, NM, MH