Autoimmune polyglandular syndrome type 3: A case report of an unusual presentation and literature review

Apolinario, Michael; Brussels, Aaron; Cook, Curtiss B.; Yang, Shaun

doi:10.1002/ccr3.5391

Cited by 3 publications

(2 citation statements)

References 29 publications

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“…Among these, there have been reported cases of impending pericardial tamponade attributed to hypothyroidism, [8] highlighting the complex interplay between endocrine dysregulation and cardiovascular complications in this syndrome. In addition, severe and longstanding vitamin B12 deficiency has been linked to subacute combined degeneration as the initial presentation, [9] revealing neurological involvement as another facet of APS-3B's heterogeneity.…”

Section: Discussionmentioning

confidence: 99%

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B

Letete,

Vaz,

Malishi

et al. 2023

S Afr Med J

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A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up for inherited thrombophilia, antiphospholipid syndrome (APLS) and paroxysmal nocturnal haemoglobinuria were unremarkable. Investigations revealed autoimmune thyroid disease, and a mixed iron/vitamin B12 deficiency due to pernicious anaemia and resultant atrophic gastritis. Hyperhomocysteinaemia due to vitamin B12 deficiency was identified as a potential contributor to her recurrent VTE. This case highlights the unusual initial presentation of autoimmune polyendocrinopathy syndrome type 3B (APS-3B) with recurrent thromboembolism, and emphasises the importance of considering hyperhomocysteinaemia in unprovoked and atypical VTE cases.

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Section: Discussionmentioning

confidence: 99%

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B

Letete,

Vaz,

Malishi

et al. 2023

S Afr Med J

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“…There are few reports on autoimmune polyglandular syndrome types; however, elevated CRP is not studied further [ 764 ]. Moreover, elevated CRP appears to identify a subset of cases with more severe disease, but a study proposed hsCRP as a useful marker to discard sarcoidosis, and another study found that children with pediatric sarcoidosis were associated with elevated CRP values.…”

Section: Current Evidence On C-reactive Protein and Potential Conditionsmentioning

confidence: 99%

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

Mouliou

2023

Diseases

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The current literature provides a body of evidence on C-Reactive Protein (CRP) and its potential role in inflammation. However, most pieces of evidence are sparse and controversial. This critical state-of-the-art monography provides all the crucial data on the potential biochemical properties of the protein, along with further evidence on its potential pathobiology, both for its pentameric and monomeric forms, including information for its ligands as well as the possible function of autoantibodies against the protein. Furthermore, the current evidence on its potential utility as a biomarker of various diseases is presented, of all cardiovascular, respiratory, hepatobiliary, gastrointestinal, pancreatic, renal, gynecological, andrological, dental, oral, otorhinolaryngological, ophthalmological, dermatological, musculoskeletal, neurological, mental, splenic, thyroid conditions, as well as infections, autoimmune-supposed conditions and neoplasms, including other possible factors that have been linked with elevated concentrations of that protein. Moreover, data on molecular diagnostics on CRP are discussed, and possible etiologies of false test results are highlighted. Additionally, this review evaluates all current pieces of evidence on CRP and systemic inflammation, and highlights future goals. Finally, a novel diagnostic algorithm to carefully assess the CRP level for a precise diagnosis of a medical condition is illustrated.

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Co-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review

Lang,

Huang,

Gao

et al. 2024

BMC Pediatr

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Background The clinical manifestations of subacute combined degeneration of spinal cord (SCD) in children are complex and vary greatly. Notably, some SCD patients may be complicated with autoimmune diseases, leading to high early misdiagnosis and missed diagnosis rates. Case presentation In this study, a case involving an adolescent female with repetitive severe anemia, multiple joint swelling and pain in the left limbs, and paralysis of the bilateral lower limbs with serum vitamin B12 deficiency, polyglandular involvement, and various positive auto-antibodies (anti‑intrinsic factor antibody, anti‑parietal cell antibody, thyroid peroxidase antibody, thyroid globulin antibody and perinuclear anti‑neutrophil cytoplasmic antibody) is reported. The patient was diagnosed with SCD co-existing with autoimmune polyglandular syndrome type 3b (APS 3b) and undifferentiated connective tissue disease (UCTD) based on the symptoms and laboratory tests. However, treatment with high-dose intravenous methylprednisolone pulses, intravenous immunoglobulin, oral naproxen (changed to hydroxychloroquine after 2 weeks), vitamin B12, levothyroxine sodium tablets supplementation, blood transfusion, and rehabilitation significantly improved the patient’s condition. Conclusion Co-existence of APS 3b, UCTD, and SCD is rare in children with significantly different clinical manifestations. Nonetheless, early diagnosis and timely treatment of SCD are crucial for improving patient outcomes. Supplementary Information The online version contains supplementary material available at 10.1186/s12887-024-05262-4.

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Autoimmune polyglandular syndrome type 3: A case report of an unusual presentation and literature review

Cited by 3 publications

References 29 publications

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B

Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B

C-Reactive Protein: Pathophysiology, Diagnosis, False Test Results and a Novel Diagnostic Algorithm for Clinicians

Co-existence of autoimmune polyglandular syndrome type 3b and undifferentiated connective tissue disease with subacute combined degeneration of spinal cord in children: a case report and literature review

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