Pernicious anemia: New insights from a gastroenterological point of view

Pernicious anemia （PA） is a macrocytic anemia that is caused by vitamin B12 deficiency, as a result of intrinsic factor deficiency. PA is associated with atrophic body gastritis （ABG）, whose diagnosis is based on histological confirmation of gastric body atrophy. Serological markers that suggest oxyntic mucosa damage are increased fasting gastrin and decreased pepsinogen I. Without performing Schilling＇s test, intrinsic factor deficiency may not be proven, and intrinsic factor and parietal cell antibodies are use- ful surrogate markers of PA, with 73% sensitivity and 100% specificity. PA is mainly considered a disease of the elderly, but younger patients represent about 15% of patients. PA patients may seek medical advice due to symptoms related to anemia, such as weak-ness and asthenia. Less commonly, the disease is suspected to be caused by dyspepsia. PA is frequently associated with autoimmune thyroid disease （40%） and other autoimmune disorders, such as diabetes mellitus （10%）, as part of the autoimmune polyen-docrine syndrome. PA is the end-stage of ABG. Long- standing Helicobacter pylori infection probably plays a role in many patients with PA, in whom the active infectious process has been gradually replaced by an autoimmune disease that terminates in a burned-out infection and the irreversible destruction of the gastric body mucosa. Human leucocyte antigen-DR genotypes suggest a role for genetic susceptibility in PA. PA patients should be managed by cobalamin replacement treatment and monitoring for onset of iron deficiency. Moreover, they should be advised about possible gastrointestinal long-term consequences, such as gastric cancer and carcinoids.

Treatment of solitary gastric carcinoid tumor by endoscopic polypectomy in a patient with pernicious anemia

Type I gastric cardnoid tumors result from hypergastrinemia in 1%-7% of patients with pernicious anemia. We diagnosed pernicious anemia in a 48-year-old female patient with complaint of fatigue for three months. She had no gastrointestinal symptoms. Endoscopic examination ot the upper gastrointestinal tract revealed atrophic gastritis and a polypoid lesion in the corpus of 3-4 mm in size. Endoscopic polypectomy was performed. Histopathological examination of the specimen revealed positive chromogranin A and synaptophysin stainings compatible with the diagnosis of a carcinoid tumor. Serum gastrin level was increased, urinary 5-hydroxyindoleacetic acid was within the normal range. There was no other symptom, sign, or laboratory finding of a carcinoid syndrome in the patient. No metastasis was found with indium-ill octreotide scan, computed tomographies of abdomen and thorax. Type I gastric carcinoid tumors are only rarely solitary and patients with tumors 〈 1 cm in size may benefit from endoscopic polypectomy.

Pernicious anemia: What are the actual diagnosis criteria?

A gastric intrinsic factor output under 200 U/h after pentagastrin stimulation (N > 2000 U/h) is specific for pernicious anemia. The other findings are either variable or non specific. Serum intrinsic factor antibodies, considered as specific in general practice, are present only in half of the patients with pernicious anemia. In their absence, since the disappearance of the Schilling tests, the gastric tubage currently used for the study of gastric acid secretion, is obligatory for the simultaneous study of intrinsic factor output. This study is important to eliminate another disease much more frequent than pernicious anemia, the protein bound to cobalamin malabsorption was observed in achlorhydric simple atrophic gastritis in the presence of intrinsic factor secretion.

Biermer Disease in an Unusual Neurological Presentation without Anemia: A Case Report

Background: Biermer disease is a megaloblastic disease caused by vitamin B12 deficiency. It is a rare clinical entity especially in subsahara Africa. Case presentation: We report the case of a 45 years old female patient who consulted for a one month history of generalised muscle cramps, weakness and numbness of all four limbs. Physical examination was relevant for a poor gait, poor coordination of both upper and lower limbs, a positive Romberg sign, normal muscle tone in all four limbs, reduced pallesthesia and deep tendon reflexes, abolished plantar reflexes. Paraclinical investigations revealed macrocytosis without anemia, a low cyanocobalamin (vitamin B12) level with a normal folic acid level, an atrophic corporeofundic mucosa which upon pathological analysis revealed a chronic atrophic gastritis with no Helicobacter pylori infection. Anti-intrinsic factor antibodies were positive while anti parietal cells antibodies were negative. The diagnosis of Biermer disease was considered and the patient did well on vitamin B12 supplementation. Conclusion: Though a rare disease, Biermer disease should be considered in a patient who consults for polyneuropathy even in the absence of anemia.

Seronegative Myasthenia Gravis and a Biermer’s Anemia:A Rare Association

We report a rare association of seronegative myasthenia gravis and a Biermer’s anemia (or pernicious anemia). A Senegalese patient of 31 years has been followed for a vitamin B12 deficiency anemia, 12 months before his hospitalization in our department. She has been admitted for an intense and invalidating fatigability in spite of the correction of anemia, associated to a right ptosis. This clinical picture has electively been improved to the prostigmine test. The electromyography had revealed a compatible decrement with a diagnosis of myasthenia. The positivity of the antibodies anti gastric parietal cells and the twice negativity of the antibody against acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) had permitted to deduct a diagnosis of seronegative myasthenia and Biermer’s anemia. The evolution was favorable under substitutive B12 vitamin therapy associated to corticotherapy and azathioprine. We insist on the research and the early treatment of a myasthenia, in a context of Biermer’s anemia, before suggestive clinical signs in spite of the negativity of the anti-Rach antibodies and anti-Musk.

Lack of specific association between gastric autoimmunity hallmarks and clinical presentations of atrophic body gastritis

AIM： To investigate the possible relationships between gastric autoimmune phenomena and clinical presentations of this disorder, in consecutive atrophic body gastritis patients. METHODS： A total of 140 atrophic body gastritis patients, diagnosed as consecutive outpatients presenting with macrocytic or iron deficiency anemia, or longstanding dyspepsia underwent gastroscopy with antral and body biopsies, assay of intrinsic factor, parietal cells and Helicobacter pylori （ H pylon） antibodies. Gastritis was assessed according to Sydney System. RESULTS： Parietal cell antibodies were equally distributed in all clinical presentations, whereas the positivity of intrinsic factor antibodies （49/140, 35%） was significantly higher in pernicious anemia patients （49.2%） than in iron deficiency （21.1%） and dyspeptic patients （27.8%）. No specific pattern of autoantibodies was related to the clinical presentations of atrophic body gastritis. A positive correlation was obtained between the body atrophy score and the intrinsic factor antibody levels （r=0.2216, P=0.0085）. Associated autoimmune diseases were present in 25/140 （17.9%） patients, but the prevalence of autoimmune diseases was comparable, irrespective of the clinical presentations. CONCLUSION： The so-called hallmarks of gastric autoimmunity, particularly in intrinsic factor antibody cannot be usefully employed in defining an autoimmune pattern in the clinical presentations of ABG.

Biermer Disease: Initial Presentation and Follow-Up of 66 Patients in Internal Medicine Department in Senegal

Pernicious anemia in black people, is little known. Through this study we assess its diagnostic and evolutive aspects, and compare vitamin therapy B12 intramuscular and oral. Sixty six Biermer disease patients followed (January 2000-June 2014) at Internal Medicine Department of Aristide Le Dantec University Teaching Hospital (Senegal) are included. They were 26 men and 46 women (gender ratio: 0.65), who had a mean age of 47.84 years ± 15.25 years. Patients consulted for anemia (65 cases), acquired melanodermia (36 cases), gastrointestinal symptoms (30 cases), peripheral neuropathy (27 cases), venous thrombosis (2 cases), acute depression (1 case). Macrocytosis was observed in 52 cases. The mean hemoglobin in the vitamin B12 intramuscular group (52 patients) or oral group (14 patients) was the inclusion: 6.55 g/dl ± 3.12 g/dl vs 6.52 g/dl ± 2.18 g/dl (p = 0.04);and at day 8 treatment: 8.69 g/dl ± 2.49 g/dl vs 8.85 g/dl ± 1.9 g/dl (p = 0.43). Neurological and vascular presentations are unusual in contrast to macrocytic anemia. Oral administration of vitamin B12, simple and effective should be recommended in country with limited resources.

Subclinical Hypothyroidism, Its Manifestations and Management a Case Report

Introduction: Thyroid states can be associated with psychiatric manifestations, be it hypothyroid, hyperthyroid or even euthyroid. The effect of depression is significant in subclinical hypothyroidism. Sometimes, its signs and symptoms are indistinguishable from Major Depressive Disorder. Our immunological system and early embryologic origins also play a role in the coexistence of other comorbidities like Pernicious Anemia. Case: A 35-year-old Hispanic female presented with significant low mood, somnolence, weight gain, increased hunger, cold intolerance and epigastric pain. It is important to note the variety of clinical manifestations of our hypothyroidism patient to understand its associations and help us with a better approach to treatment. Discussion: Standard approaches to treatment of Subclinical Hypothyroidism will depend mostly on laboratory findings such as TSH levels and free T4. Individualized therapy chosen for our patient was based on his mood symptoms, laboratory findings and coexistence of Pernicious Anemia. The use of daily 0.025 mg of levothyroxine, 10 mg of escitalopram oxalate and weekly injections of cyanocobalamin were treatments of choice. Conclusion: During follow up of our patient, we can conclude that Levothyroxine and Escitalopram Oxalate were able to improve hypothyroidism symptoms, reduce thyroglobulin and peroxidase antibodies and improve mood symptoms including cognitive functions. In addition to this, weekly cyanocobalamin injections were integrated into the management. As parietal cell antibodies decreased, gastrointestinal symptoms also disappeared. By addressing the concerns of our patient, we improved quality of care, and this is reflected in the patient’s wellbeing in physical and psychological.