IDENTIFICATION OF AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 3 IN PATIENT WITH HYPOTHYROIDISM : A CASE REPORT

Autoimmune polyglandular syndromes (APS) are characterized by sequential or simultaneous deciencies in the function of several endocrine glands that have a common cause. Etiology is most often autoimmune.We report a case of a 40-year-old female with diabetes who presented with diabetic ketoacidosis (DKA) and was later diagnosed with T1D. The patient has had a history of hypothyroidism. The presence of vitiligo was an incidental nding.Laboratory investigations showed low C peptide level, glutamic acid decarboxylase (GAD) 65 antibodies positive, thyroid peroxidase antibodies (TPO) positive, parietal cell antibody positive, and weakly positive antinuclear antibody (ANA), amid normal corticotropin(ACTH), parathyroid hormone (PTH) , vitamin B 12 levels, and a negative intrinsic factor antibody. The patient had a history of hypothyroidism, subsequently developed T1D, and had vitiligobut was overlooked. The case highlights the notable absence of recognizing the need to investigate this patient who presented with more than two endocrine diseases for measurement of hormone levels, autoantibodies against affected endocrine glands and recognition of related symptoms and signs, and hence the signicance of history taking, observation, and maintaining a high degree of suspicion.

A Case of Pernicious Anaemia with Psoriasis

Pernicious anaemia often poses diagnostic and therapeutic challenges to the clinician. Herein, we representing a 55 years old lady who presented with anaemia along with its classical symptoms and features of peripheral neuropathy due to Pernicious anaemia associated with Psoriasis and Arthropathy without any association of other autoimmune disorder. She had all objective evidences of autoimmune atrophic gastritis in gastric fundic biopsy and positive anti-intrinsic factor antibody. Treatment with injection vitamin B12 improved the condition rapidly. JAFMC Bangladesh. Vol 15, No 2 (December) 2019: 243-245

Acquired Thrombotic Thrombocytopenic Purpura in a Patient with Pernicious Anemia

Introduction. Acquired thrombotic thrombocytopenic purpura (TTP) has been associated with different autoimmune disorders. However, its association with pernicious anemia is rarely reported.Case Report. A 46-year-old male presented with blood in sputum and urine for one day. The vitals were stable. The physical examination was significant for icterus. Lab tests’ results revealed leukocytosis, macrocytic anemia, severe thrombocytopenia, renal dysfunction, and unconjugated hyperbilirubinemia. He had an elevated LDH, low haptoglobin levels with many schistocytes, nucleated RBCs, and reticulocytes on peripheral smear. Low ADAMTS13 activity (<10%) with elevated ADAMTS13 antibody clinched the diagnosis of severe acquired TTP, and plasmapheresis was started. There was an initial improvement in his hematological markers, which were however not sustained on discontinuation of plasmapheresis. For his refractory TTP, he was resumed on daily plasmapheresis and Rituximab was started. Furthermore, the initial serum Vitamin B12 and reticulocyte index were low in the presence of anti-intrinsic factor antibody. So with the concomitant diagnosis of pernicious anemia, Vitamin B12 was supplemented. The rest of the immunological workups were negative. Subsequently, his symptoms resolved and his hematological parameters improved.Discussion. While pernicious anemia can masquerade as TTP, an actual association between the two can also occur and needs further evaluation and characterization.

Limited value of testing for intrinsic factor antibodies with negative gastric parietal cell antibodies in pernicious anaemia: Figure 1

Background:The appropriate testing strategy for diagnosing pernicious anaemia using gastric parietal cell (GPC) and/or intrinsic factor antibodies (IFA) is controversial. Intrinsic factor antibodies are found in only about 70% of cases. Indirect immunofluorescence screening for gastric parietal cell antibodies is more sensitive, labour intensive, and less specific.Methods:The frequency of antibody positivity (IFA and/or GPC) was retrospectively examined in patients tested for both autoantibodies over a three-year period. It was investigated whether B12 levels were related to antibody status. These findings were validated in a prospective study of IFA in 91 GPC negative patients with low B12 levels.Results:Of 847 samples identified in the retrospective study, 4 (0.47%) were positive for only intrinsic factor antibodies, 731 (86.3%) positive for GPC alone, and 112 (13.2%) for both. Student t test on log-transformed data showed B12 levels had no bearing on autoantibody status. 91 consecutive patients with low B12 levels were tested for both autoantibodies; all were negative for gastric parietal cell antibodies. Only one sample was positive for intrinsic factor antibody using the porcine intrinsic factor assay, but was negative by a human recombinant intrinsic factor-based ELISA.Conclusions:This study provides evidence that testing for gastric parietal cell antibodies is an appropriate screening test for pernicious anaemia, with intrinsic factor antibodies reserved for confirmatory testing or in patients with other autoantibodies that mask the GPC pattern; B12 levels are not related to autoantibody status.