Autoimmune Polyglandular Syndrome III in a Patient with Idiopathic Portal Hypertension

Abstract

A 42-year-old woman with a history of idiopathic portal hypertension (IPH) developed type 1A diabetes and was found to have chronic thyroiditis. The concurrence of IPH and type 1A diabetes has been previously reported in only one case. This is the second known case, and our patient was classified as having autoimmune polyglandular syndrome (APS) III. The patient's HLA DR and DQ alleles were determined to be susceptible to autoimmune thyroid diseases but resistant to type 1A diabetes. Case ReportThe patient initially consulted her local physician at 37 years of age due to abdominal pain, at which time she presented with pancytopenia, splenomegaly and esophageal varices. She was referred to our department of gastroenterology where she underwent detailed examinations, including a liver biopsy. She was diagnosed with idiopathic portal hypertension (IPH) and treated as an outpatient. She required periodic treatment for esophageal varices. She first developed thirst and polyuria in February 2011, and her body weight decreased by 5 kg over two months. In April 2011, she had a casual serum glucose level of 254 mg/dL and an HbA1c level of 11.6% with positive glycosuria and ketonuria. On April 13, 2011, she was admitted to our hospital for further evaluation and treatment.Table shows the patient's admitting laboratory data. The blood work showed pancytopenia and hypoalbuminemia in addition to mildly elevated hepatic enzymes and ammonia levels; however, these results did not differ markedly from the patient's previous results. The acetoacetate and hydroxybutyrate levels were elevated, and ketosis was present, although no acidosis was observed on an arterial blood gas analysis. The anti-GAD antibody titer was very high, and anti-insulin antibodies were positive. A C-peptide response (CPR) test showed serum C-peptide concentrations of 0.5 ng/mL after an overnight fast and 3.3 ng/mL two hours after a meal (Table), thus indicating a reduced capacity of endogenous insulin secretion. Based on these results, the patient was diagnosed with type 1A diabetes and treated with intensified insulin therapy after admission, leading to a relatively rapid normalization of the blood glucose level. The total insulin dose at discharge was only 9 units.Thyroid function tests revealed an elevated TSH level with depressed FT3 and FT4 and positive anti-TPO and antithyroglobulin antibodies (Table). There was no enlargement of the thyroid gland on thyroid echography; however, mild attenuation and heterogeneity of the internal echo were observed, which were consistent with chronic thyroiditis. Therefore, a diagnosis of hypothyroidism due to chronic thyroiditis was made, and treatment with levothyroxine sodium hydrate was initiated with a maintenance dose of 100 μg/day.As type 1A diabetes and chronic thyroiditis were observed in addition to IPH, the patient was diagnosed with autoimmune polyglandular syndrome (APS) III. The ACTH level and the cortisol level at rest were normal, and Addi-

Clinical features of idiopathic portal hypertension in China: A retrospective study of 338 patients and literature review

“…As autoimmune diseases frequently occur in middle‐aged females, this may potentially explain the older age at onset in female patients. Moreover, several cases of IPH with concomitant autoimmune hepatitis, mixed connective tissue disease, autoimmune polyglandular syndrome III, or Hashimoto's thyroiditis have been reported …”

“…Moreover, several cases of IPH with concomitant autoimmune hepatitis, mixed connective tissue disease, autoimmune polyglandular syndrome III, or Hashimoto's thyroiditis have been reported. 12,[47][48][49] From a microcosmic perspective, the pathology of IPH is characterized by fibrotic expansion of intermediate-size portal tracts, round-shaped fibrous expansion of portal tracts, and narrowing, collapse, and loss of portal vein branches; in addition, aberrant vessels adjacent to portal tracts are a prominent feature in most peripheral portal tracts. 43 Thus, portal fibrosis and obliteration of the small portal vein may be the main pathological process that leads to portal hypertension in IPH.…”