Folate deficiency differential diagnosis: Difference between revisions
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==Differential Diagnosis== | ==Differential Diagnosis== | ||
* Folate deficiency must be differentiated from other diseases associated with the Macrocytic anemia such as [[Vitamin B12 deficiency]], [[Alcoholic liver disease]], [[Hypothyroidism]], [[Myelodysplastic syndrome|Myelodysplasia]] and [[Aplastic anemia]] | |||
* Folate and Vitamin B12 deficiencies are the two most important causes of '''Megaloblastic macrocytic anemia''' associated with impaired DNA synthesis and megaloblastic changes like hypersegmented neutrophils and glossitis. History and physical examination, vitamin B<sub>12</sub> level, reticulocyte count, and a peripheral smear are helpful in delineating the underlying cause of megaloblastosis. A measurement of methylmalonic acid in the blood or urine, can provide an indirect method for partially differentiating Vitamin B<sub><small>12</small></sub> and folate deficiencies. The level of methylmalonic acid is not elevated in folic acid deficiency while it is raised in Vitamin B12 (cobalamin) deficiency. Direct measurement of blood cobalamin and folate is the gold standard to differentiate between the two causes. | |||
* Vitamin B12 deficiency must be ruled out, and treated if present, before giving folic acid to a patient with megaloblastic anemia, since administration of folic acid may worsen neurologic complications of untreated vitamin B12 deficiency. | |||
Folate and Vitamin B12 deficiencies | |||
{| class="wikitable" | {| class="wikitable" | ||
!CONDITIONS | !CONDITIONS | ||
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|- | |- | ||
|[[Vitamin B12 deficiency]] | |[[Vitamin B12 deficiency]] | ||
| | |Associated with neurologic and neuropsychiatric symptoms. e.g. decreased vibration sense, peripheral neuropathy, gait abnormalities. | ||
| | | | ||
* Serum vitamin B12 levels are low. | * Serum vitamin B12 levels are low. | ||
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* Elevated TSH, low T4, and low T3. | * Elevated TSH, low T4, and low T3. | ||
* Serum folate level is normal. Homocysteine is often elevated | * Serum folate level is normal. Homocysteine is often elevated | ||
|- | |- | ||
|[[Myelodysplastic syndrome]] | |[[Myelodysplastic syndrome]] | ||
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| | | | ||
* Macrocytic anemia may be associated with neutropenia and thrombocytopenia. | * Macrocytic anemia may be associated with neutropenia and thrombocytopenia. | ||
* Peripheral smear may | * Peripheral smear may suggestive of large, hypogranular platelets; hypogranulated, hyposegmented neutrophils with Dohle bodies; and circulating myeloblasts. | ||
* Bone marrow | * Bone marrow findings include dyserythropoiesis; hypogranulated, hyposegmented granulocytic precursors; increased myeloblasts; and megakaryocytes showing fewer or disorganized nuclei. Ringed sideroblasts can also be seen | ||
* Cytogenetic analysis and fluorescence in-situ hybridization can identify specific chromosomal abnormalities. | * Cytogenetic analysis and fluorescence in-situ hybridization can identify specific chromosomal abnormalities. | ||
|- | |- | ||
|[[Aplastic anemia]] | |[[Aplastic anemia]] | ||
| | |Hx of recent viral illness, chemical exposure, or drug use. | ||
Bleeding and symptoms of infection are usually present. Ecchymosis and signs of infection may be present. | Bleeding and symptoms of infection are usually present. Ecchymosis and signs of infection may be present. | ||
| | | | ||
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|Drug-induced [[macrocytosis]] | |Drug-induced [[macrocytosis]] | ||
| | |Hx of intake of certain drugs, such as DNA synthesis-inhibiting drugs, immunosuppressive drugs, anticonvulsants, and antiviral medications. | ||
| | | | ||
* Serum folate level is normal. | * Serum folate level is normal. | ||
|- | |- | ||
|[[Diphyllobothriasis]] | |[[Diphyllobothriasis]] | ||
| | |Associated with abdominal discomfort, diarrhea, vomiting, weakness, weight loss, and occasionally acute abdominal pain due to intestinal obstruction, cholangitis, or cholecystitis. Other features are megaloblastic anemia and neurologic abnormalities secondary to vitamin B12 (cobalamin) deficiency. | ||
| | | | ||
* Stool exam reveals characteristic eggs of the fish tapeworm | * Stool exam reveals characteristic eggs of the fish tapeworm | ||
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|} | |} | ||
.Macrocytosis is defined as a MCV (mean corpuscular volume) greater than 100 fL. It can be divided into megaloblastic and non-megaloblastic types. Following are the causes of '''Non-megaloblastic anemia''' i.e. MCV >100 fL without DNA replication problems and megaloblastic changes. | |||
*[[Alcoholism]] : This is a result of dietary lack, a weak antifolate action and a direct toxic effect of alcohol on the bone marrow. | |||
*[[Hypothyroidism]] : Macrocytosis is found in up to 55% patients with hypothyroidism and may result from the insufficiency of the [[thyroid]] hormones themselves and also due to 20 times increased risk of [[pernicious anemia]] in people with hypothyroidism | |||
*[[Aplastic anemia]] : Mild [[macrocytosis]] can be observed in association with stress erythropoiesis and elevated [[fetal hemoglobin]] levels in aplastic anemia. | |||
*[[Reticulocytosis]] : Commonly due to hemolysis or a recent history of blood loss. This is due to increased hematopoeisis and rapid release of immature RBCs from the bone marrow to replace the blood loss. | |||
*[[Liver diseases|Liver disease]] : Liver enzymes play an important role in the process of normal erythropoiesis and liver dysfunction can lead to defective erythropoiesis. | |||
*[[Myeloproliferative neoplasm|Myeloproliferative diseas]] and [[Myelodysplastic syndrome|Myelodysplastic syndromes]] : due to bone marrow dysfunction | |||
*Chronic exposure to benzene and drugs like [[Fluorouracil|5- Fluorouracil.]] | |||
== Differentiating [Disease name] from other Diseases[edit | edit source] == | == Differentiating [Disease name] from other Diseases[edit | edit source] == | ||
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3]. | [Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3]. | ||
Revision as of 12:14, 5 February 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Folate deficiency must be differentiated from other diseases associated with the Macrocytic anemia such as Vitamin B12 deficiency, Alcoholic liver disease, Hypothyroidism, Myelodysplasia and Aplastic anemia.
Differential Diagnosis
- Folate deficiency must be differentiated from other diseases associated with the Macrocytic anemia such as Vitamin B12 deficiency, Alcoholic liver disease, Hypothyroidism, Myelodysplasia and Aplastic anemia
- Folate and Vitamin B12 deficiencies are the two most important causes of Megaloblastic macrocytic anemia associated with impaired DNA synthesis and megaloblastic changes like hypersegmented neutrophils and glossitis. History and physical examination, vitamin B12 level, reticulocyte count, and a peripheral smear are helpful in delineating the underlying cause of megaloblastosis. A measurement of methylmalonic acid in the blood or urine, can provide an indirect method for partially differentiating Vitamin B12 and folate deficiencies. The level of methylmalonic acid is not elevated in folic acid deficiency while it is raised in Vitamin B12 (cobalamin) deficiency. Direct measurement of blood cobalamin and folate is the gold standard to differentiate between the two causes.
- Vitamin B12 deficiency must be ruled out, and treated if present, before giving folic acid to a patient with megaloblastic anemia, since administration of folic acid may worsen neurologic complications of untreated vitamin B12 deficiency.
| CONDITIONS | SIGNS/SYMPTOMS | INVESTIGATIONS |
|---|---|---|
| Vitamin B12 deficiency | Associated with neurologic and neuropsychiatric symptoms. e.g. decreased vibration sense, peripheral neuropathy, gait abnormalities. |
|
| Alcoholic liver disease | Nutritional deficiencies and macrocytic anemia may be the presenting features. History reveals alcohol abuse. |
|
| Hypothyroidism | Associated with constipation, weight gain, cold intolerance, hoarse voice, bradycardia, dry skin, delayed tendon reflexes. |
|
| Myelodysplastic syndrome | Gradual-onset fatigue often present. Patients may have splenomegaly. |
|
| Aplastic anemia | Hx of recent viral illness, chemical exposure, or drug use.
Bleeding and symptoms of infection are usually present. Ecchymosis and signs of infection may be present. |
|
| Drug-induced macrocytosis | Hx of intake of certain drugs, such as DNA synthesis-inhibiting drugs, immunosuppressive drugs, anticonvulsants, and antiviral medications. |
|
| Diphyllobothriasis | Associated with abdominal discomfort, diarrhea, vomiting, weakness, weight loss, and occasionally acute abdominal pain due to intestinal obstruction, cholangitis, or cholecystitis. Other features are megaloblastic anemia and neurologic abnormalities secondary to vitamin B12 (cobalamin) deficiency. |
|
.Macrocytosis is defined as a MCV (mean corpuscular volume) greater than 100 fL. It can be divided into megaloblastic and non-megaloblastic types. Following are the causes of Non-megaloblastic anemia i.e. MCV >100 fL without DNA replication problems and megaloblastic changes.
- Alcoholism : This is a result of dietary lack, a weak antifolate action and a direct toxic effect of alcohol on the bone marrow.
- Hypothyroidism : Macrocytosis is found in up to 55% patients with hypothyroidism and may result from the insufficiency of the thyroid hormones themselves and also due to 20 times increased risk of pernicious anemia in people with hypothyroidism
- Aplastic anemia : Mild macrocytosis can be observed in association with stress erythropoiesis and elevated fetal hemoglobin levels in aplastic anemia.
- Reticulocytosis : Commonly due to hemolysis or a recent history of blood loss. This is due to increased hematopoeisis and rapid release of immature RBCs from the bone marrow to replace the blood loss.
- Liver disease : Liver enzymes play an important role in the process of normal erythropoiesis and liver dysfunction can lead to defective erythropoiesis.
- Myeloproliferative diseas and Myelodysplastic syndromes : due to bone marrow dysfunction
- Chronic exposure to benzene and drugs like 5- Fluorouracil.
Differentiating [Disease name] from other Diseases[edit | edit source]
[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].
OR
[Disease name] must be differentiated from [differential dx1], [differential dx2], and [differential dx3].
OR
As [disease name] manifests in a variety of clinical forms, differentiation must be established in accordance with the particular subtype. [Subtype name 1] must be differentiated from other diseases that cause [clinical feature 1], such as [differential dx1] and [differential dx2]. In contrast, [subtype name 2] must be differentiated from other diseases that cause [clinical feature 2], such as [differential dx3] and [differential dx4].
Differentiating [disease name] from other diseases on the basis of [symptom 1], [symptom 2], and [symptom 3][edit | edit source]
On the basis [symptom 1], [symptom 2], and [symptom 3], [disease name] must be differentiated from [disease 1], [disease 2], [disease 3], [disease 4], [disease 5], and [disease 6].
| Diseases | Clinical manifestations | Para-clinical findings | Gold standard | Additional findings | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Symptoms | Physical examination | ||||||||||||||
| Lab Findings | Imaging | Histopathology | |||||||||||||
| Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | ||||
| Differential Diagnosis 1 | |||||||||||||||
| Differential Diagnosis 2 | |||||||||||||||
| Differential Diagnosis 3 | |||||||||||||||
| Diseases | Symptom 1 | Symptom 2 | Symptom 3 | Physical exam 1 | Physical exam 2 | Physical exam 3 | Lab 1 | Lab 2 | Lab 3 | Imaging 1 | Imaging 2 | Imaging 3 | Histopathology | Gold standard | Additional findings |
| Differential Diagnosis 4 | |||||||||||||||
| Differential Diagnosis 5 | |||||||||||||||
| Differential Diagnosis 6 | |||||||||||||||