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PERNICIOUS

ANEMIA
DR. LUCI DIANNE E. ELEMEOS, RMT, FPOGS, FPCM
PERNCIOUS ANEMIA
◦ Associated with Vit. B12 deficiency that results from an acquired atrophy of
the gastric mucosal lining.
◦ Secretion of the Intrinsic Factor is reduced or sometimes eliminated.
◦ Without protection by the Intrinsic Factor, Vit. B12 is destroyed in the GI tract
before it can be absorbed in the ileum.
PERNICIOUS ANEMIA
◦ Peak age of incidence is 60 years

◦ Congenital form is rare and inherited as autosomal recessive trait


PERNICIOUS ANEMIA
◦ PATHOPHYSIOLOGY:
Mucosal damage(mechanical, chemical or thermal)
nutritional def,
endocrine disorders,
genetic disorders,
autoimmune mechanisms.  Gastritis ---suppresses or arrests
IF secretion---> Vit. B12 deficiency
PERNICIOUS ANEMIA
◦ CLINCAL FINDINGS:
symptoms do not appear until anemia is profound,
When the nervous system is involved, symptoms appear early and progresses
rapidly than the developing anemia.
◦ Glossitis-sore tongue appears early (nearly half of patients) in the course of the
disease. severe glossitis is very painful and appears as“beefy red”.
◦ Other symptoms: weakness,GIT discomfort, weight loss due to anorexia,
difficulty walking, fever, yellow skin with mild icterisia and brownish
discoloration with patchy vitiligo
PERNICIOUS ANEMIA
◦ NEUROLOGIC INVOLVEMENT: CAUSED BY B12 def on the white matter
of the cerebral cortex and of the spinal cord’s lateral and dorsal columns,
◦ Myelin degeneration and peripheral nerve degeneration-produces
paresthesias including prickling and tingling sensation described as “pins and
needles”sensation on the hands and feet.
◦ it also produces unsteady gait, weakness, clumsiness an spasticity (severe
degeneration).
PERNICIOUS ANEMIA
◦ Psychiatric involvement: “megaloblastic madness”- hallucinations, maniacal outbursts, paranoia and
schizophrenia. Prompt therapy will resolve these symptoms.
◦ laboratory tests:
a. serum B12 determination, Erythrocyte folate tests
b. Blocking IF antibodies immunologic test of choice in the diagnosis of Pernicious anemia
c. The Schilling test provides a measure of the body’s ability to secrete viable If and absorb orally
administered Co-labelled B12 in the ileum.
d. Deoxyuridine suppression test performed in some specialized laboratories to detect B12 or folate
deficiency. It is a highly sensitive test used to detect deficiencies in patients with borderline or non-existent
hematologic changes.
PERNICIOUS ANEMIA
◦ OTHER CAUSES OF ACQUIRED VIT. B12 DEF.:
1. Castle’s Intrinsic Factor Deficiency results from partial or total gastrectomy, hence supplemental Vit.
B 12 should be provided.
2. Intrinsic Factor molecular defect a rare cause of B12 deficiency, its b12 binding capacity is normal
but incapable of facilitating ileal B12 absorption.
3. Small bowel bacterial overgrowth
4. Fish Tapeworm DiseaseDiphyllobotrium latum - a freshwater fish tapeworm interferes with b12
absorption by competing with IF for binding B12.
5. Ileal disease because B12 is absorbed in the ileum, ileal resection, bypass or disease often leads to B
12 malabsorption.
6. Certain drugs- neomycin and ethanol– causes malabsorption of B12.
Immerslund syndrome
◦ a hereditary Vit. B12 deficiency
◦ Causes B12 malabsorption which is unrelated to Intrinsic Factor deficiency or defect,
the vitamin cannot be absorbed with or without the Intrinsic Factor
FOLATE DEFICIENCY
◦ Associated with the same general findings as vit. B12 deficiency EXCEpt for
the neurologic manifestations.
◦ Inherited form is rare.
◦ Causes of acquired folate deficiency:
1. dietary def
2. Alcoholic cirrhosis
3. Pregnancy
4. Infant malnutrition
FOLATE DEFICIENCY
5. Folate antagonists
TROPICAL SPRUE
◦ CAUSES BOTH B12 AND FOLATE DEF. DUE TO INTESTINAL ATROPHY

◦ Patients manifests steatorrhea, weight loss, weakness and a wide-ranging nutritional deficiencies caused
by a general lack of nutrient absorption.
INHERITED DISORDERS THAT
AFFECT DNA SYNTHESIS
1. Orotic Aciduria
2. Lesch-Nyhan Syndromea rare x-linked disorder of purine metabolism
csused by the lack of enzyme, xanthine-guanine phosphoribosyl-transferase

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