-
Future Science OA 2024Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can...
Vitamin B12 deficiency is widely recognized as a common cause of anemia. However, symptoms such as dysphagia, melanoderma, and pancytopenia, although less frequent, can also be associated with this deficiency. We report the case of a 47-year-old Caucasian man presented with dysphagia to solids associated to high heart rate, dyspnea and melanoderma. He was diagnosed with severe anemia (hemoglobin 4 g/dl) in association with pancytopenia. Further investigation confirmed that the underlying cause was severe vitamin B12 deficiency secondary to pernicious anemia. Subsequent treatment with vitamin B12 supplements led to a significant improvement in all symptoms. A review of the existing literature corroborated the rarity of severe anemia occurring in conjunction with dysphagia and melanoderma due to B12 deficiency.
PubMed: 38817371
DOI: 10.2144/fsoa-2023-0176 -
Cureus Apr 2024Biermer's disease (BD) or pernicious anemia (PA) is an autoimmune atrophic gastritis characterized by the absence of intrinsic factor (IF) secretion, leading to...
Biermer's disease (BD) or pernicious anemia (PA) is an autoimmune atrophic gastritis characterized by the absence of intrinsic factor (IF) secretion, leading to malabsorption of vitamin B12 in the ileum. Its clinical manifestations are primarily hematological, with neuropsychiatric and cardiovascular manifestations being less common. We present the case of a patient with PA diagnosed based on neurological and cardiovascular complications. The patient, a 56-year-old man with no specific medical history, presented with an episode of melena without other associated digestive symptoms. He also complained of memory and gait disturbances. Clinical examination revealed a cerebellar ataxia with impaired proprioceptive and vibratory sensitivity, and a swollen and red right lower limb with a positive Homan sign. The blood count showed macrocytic anemia. Gastroscopy revealed flattened fundic folds resembling a fundus appearance, and histopathological examination confirmed fundic atrophic gastritis with pseudopyloric metaplasia and lymphoplasmacytic infiltration. Anti-intrinsic factor antibodies were positive, while anti-parietal cell antibodies were negative. Vitamin B12 levels were severely low, and vitamin B9 levels were normal. TSH and HbA1c levels were within normal ranges. The abdominal CT scan showed no abnormalities. Lower limb Doppler ultrasound confirmed the diagnosis of deep vein thrombosis (DVT). Cardiac evaluation revealed sinus bradycardia suggestive of secondary dysautonomia. Therapeutically, the patient was started on vitamin B12 supplementation and anticoagulant therapy for DVT, resulting in a good clinical and biological outcome.
PubMed: 38765343
DOI: 10.7759/cureus.58601 -
BMC Cancer May 2024Observational study investigated the association between pernicious anemia (PA) and cancers. However, with the exception of gastric cancer, the results are mostly...
BACKGROUND
Observational study investigated the association between pernicious anemia (PA) and cancers. However, with the exception of gastric cancer, the results are mostly contradictory. The purpose of this study was to investigate the potential causal relationship between PA and cancers through bidirectional two-sample Mendelian randomized (MR) analysis.
METHODS
The European sample FinnGen project provided the genetic summary data for PA and 20 site-specific cancers. This bidirectional two-sample MR design mainly used the inverse variance weighting (IVW) method to evaluate the causal relationship between PA and cancer risk. Benjamini-Hochberg correction was performed to reduce the bias caused by multiple tests.
RESULTS
Our study shows that there was a causal relationship between PA and gastric cancer, prostate cancer, testicular cancer and malignant melanoma of skin, and there was a reverse causal relationship between prostate cancer or gastric cancer and PA (P < 0.05). After Benjamini-Hochberg correction test, there was still a causal correlation between PA and gastric or prostate cancer (P' < 0.05), while there was only an implied causal association between PA and testicular cancer and malignant melanoma of skin (P'> 0.05). There was still a reverse causal relationship between gastric cancer and PA (P'< 0.05), while prostate cancer shows an implied reverse causal relationship(P'> 0.05). In addition, MR-Egger and MR-PRESSO tests showed no significant horizontal pleiotropy.
CONCLUSIONS
PA may be genetically associated with testicular cancer, prostate cancer, gastric cancer, and malignant melanoma of skin.
Topics: Humans; Mendelian Randomization Analysis; Anemia, Pernicious; Male; Stomach Neoplasms; Neoplasms; Testicular Neoplasms; Genetic Predisposition to Disease; Polymorphism, Single Nucleotide; Prostatic Neoplasms; Female
PubMed: 38741062
DOI: 10.1186/s12885-024-12354-y -
Cureus Apr 2024Pernicious anemia (PA) is an autoimmune condition resulting in impaired vitamin B12 absorption that commonly presents with gastritis and neurological symptoms. In rare...
Pernicious anemia (PA) is an autoimmune condition resulting in impaired vitamin B12 absorption that commonly presents with gastritis and neurological symptoms. In rare cases, associated vitamin B12 deficiency can contribute to significant red blood cell lysis, and patients can present with PA-induced pseudo-thrombotic microangiopathy (TMA) hemolytic anemia. This case describes a 59-year-old male presenting with a two-week history of gastrointestinal pain with bleeding who had anemia and hemodynamic instability on initial evaluation. After the endoscopy/colonoscopy did not reveal any active sources of bleeding and packed red blood cells failed to stabilize the patient, it was found that he had low serum B12 with anti-intrinsic factor and anti-parietal cell antibodies. A coordinated clinical approach, including parenteral cyanocobalamin and daily oral folic acid supplementation, stabilized the patient, highlighting the importance of distinguishing PA-induced pseudo-TMA from true TMA hemolytic anemia.
PubMed: 38725794
DOI: 10.7759/cureus.57901 -
Clinical Case Reports May 2024Neuromyelitis optica spectrum disorder is an autoimmune disease, rarely presents with antiphospholipid syndrome. Diagnosis and management of NMOSD are challenging in the...
KEY CLINICAL MESSAGE
Neuromyelitis optica spectrum disorder is an autoimmune disease, rarely presents with antiphospholipid syndrome. Diagnosis and management of NMOSD are challenging in the background of diverse presentations, especially in resource-limited settings.
ABSTRACT
Neuromyelitis optica spectrum disorder (NMOSD) is a progressive demyelinating autoimmune condition resulting from the autoantibodies produced against aquaporin-4 (AQP-4) proteins which are widely distributed in astrocytes in the nervous system. In the setting of NMOSD, it is very crucial to consider other autoimmune diseases as differential diagnoses or co-occurrences due to the diversity of symptoms. NMOSD co-exists with other autoimmune diseases such as myasthenia gravis, thyroid disease, ankylosing spondylitis, pernicious anemia, thrombotic thrombocytopenic purpura, ulcerative colitis, and systemic lupus erythematosus. Few cases of antiphospholipid syndrome co-existing with NMOSD have been reported. In resource-limited settings, the published data are scarce, and therefore, autoimmune diseases are poorly studied. Therefore, late diagnosis and delayed treatment initiation pose long-term sequelae and hence poor prognosis. Here, we present a case of an African woman in her early 40s presenting with bilateral progressive loss of vision, transverse myelitis, extensive longitudinal hyperintense T2 cervical lesion, and AQP-4 autoantibody keeping with NMOSD. The co-existence of antiphospholipid syndrome, in this case, was supported by a history of recurrent pregnancy loss and positive antiphospholipid antibodies. This case underscores the importance of individualized-based medicine, especially in resource-limited settings.
PubMed: 38721556
DOI: 10.1002/ccr3.8818 -
Cureus Mar 2024Severe vitamin B12 deficiency presents a diagnostic challenge due to its diverse clinical manifestations, which can mimic serious hematologic disorders such as...
Severe vitamin B12 deficiency presents a diagnostic challenge due to its diverse clinical manifestations, which can mimic serious hematologic disorders such as thrombotic thrombocytopenic purpura (TTP) or leukemia. The case we present here illustrates the unique characteristics of severe B12 deficiency, highlighting key differentiators from other conditions, including decreased reticulocyte counts and markedly elevated lactate dehydrogenase levels indicative of suppressed erythropoiesis. Advanced cobalamin deficiency affects all cell lines, leading to peripheral pancytopenia. Proposed mechanisms include fragile red blood cells prone to shearing, resulting in schistocyte formation, and hyperhomocysteinemia-induced oxidative stress exacerbating hemolysis. Prompt recognition and treatment with B12 replacement are critical, as illustrated by this case of hemolytic anemia and pancytopenia secondary to pernicious anemia, to prevent severe hematologic complications.
PubMed: 38690452
DOI: 10.7759/cureus.57286 -
Journal of Community Hospital Internal... 2023Vitamin B12 is a water-soluble vitamin cofactor for many enzymatic reactions in the body. It plays a vital role in the normal maturation of red blood cells and in...
Vitamin B12 is a water-soluble vitamin cofactor for many enzymatic reactions in the body. It plays a vital role in the normal maturation of red blood cells and in producing proteins needed for normal neurological function. The most common presentations of vitamin B12 deficiency are hematological abnormalities and neurological manifestations. Pseudo-thrombotic microangiopathy, a syndrome of hemolysis and thrombocytopenia, may mimic the presentation of thrombotic microangiopathies such as thrombotic thrombocytopenic purpura, an uncommon presentation of vitamin B12 deficiency. We present the case of a 58-year-old male with no significant past medical history who presented with severe macrocytic anemia and thrombocytopenia with laboratory findings suggestive of hemolytic anemia. He was found to have vitamin B12 deficiency with positive serological markers suggesting pernicious anemia is the underlying cause. Our case demonstrates that vitamin B12 deficiency should be considered in cases of suspected thrombotic microangiopathy, especially in the setting of significantly elevated lactate dehydrogenase levels and low reticulocyte count to avoid the initiation of unnecessary and expensive treatment modalities such as plasmapheresis.
PubMed: 38596564
DOI: 10.55729/2000-9666.1263 -
South African Medical Journal =... Dec 2023A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up...
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.
Topics: Female; Humans; Middle Aged; Venous Thromboembolism; Polyendocrinopathies, Autoimmune; South Africa; Venous Thrombosis; Vitamin B 12 Deficiency
PubMed: 38525624
DOI: 10.7196/SAMJ.2024.v114i1.1477 -
Clinical, Cosmetic and Investigational... 2024Vitiligo is a skin depigmentation disease resulting from melanocyte destruction and often co-occurring with autoimmune disorders like hyperthyroidism, alopecia areata,...
Vitiligo is a skin depigmentation disease resulting from melanocyte destruction and often co-occurring with autoimmune disorders like hyperthyroidism, alopecia areata, pernicious anemia, and systemic lupus erythematosus (SLE). Although various traditional treatments exist for vitiligo, their effectiveness varies considerably. This report presents a unique case of a vitiligo patient with concomitant systemic lupus erythematosus. Remarkably, after a 30-day course of treatment with tofacitinib, complete repigmentation of the white macular rash was achieved, and there were no adverse drug reactions. These findings provide compelling evidence for the efficacy and safety of oral JAK inhibitors, such as tofacitinib, in vitiligo treatment. Additionally, JAK inhibitors can yet be regarded as a promising new treatment option for vitiligo patients with concurrent autoimmune diseases.
PubMed: 38524393
DOI: 10.2147/CCID.S448535