ICD-11 code 3A02.0 refers to hereditary folate deficiency anemia, a condition characterized by a lack of sufficient folate in the body due to a genetic mutation. Folate, also known as vitamin B9, is essential for the production of red blood cells and DNA synthesis. In individuals with hereditary folate deficiency anemia, the body is unable to properly absorb or utilize folate, leading to decreased red blood cell production and anemia.
Symptoms of hereditary folate deficiency anemia can include fatigue, weakness, pale skin, shortness of breath, and possibly neurological symptoms such as irritability, confusion, or depression. This condition can be particularly severe in infants and children, leading to developmental delays, growth retardation, and other complications if left untreated. Early diagnosis and treatment, typically through folate supplementation, can help manage symptoms and prevent long-term complications associated with hereditary folate deficiency anemia.
Table of Contents:
- #️⃣ Coding Considerations
- 🔎 Symptoms
- 🩺 Diagnosis
- 💊 Treatment & Recovery
- 🌎 Prevalence & Risk
- 😷 Prevention
- 🦠 Similar Diseases
#️⃣ Coding Considerations
The equivalent SNOMED CT code for the ICD-11 code 3A02.0, which represents Hereditary folate deficiency anaemia, is 44216009. This SNOMED CT code specifically refers to the condition of anemia caused by a hereditary deficiency of folate, a vital nutrient for red blood cell production. By utilizing this code, healthcare professionals can accurately identify and document cases of hereditary folate deficiency anaemia in electronic health records and databases. It serves as a standardized way to ensure consistency and precision in clinical documentation and coding practices. This seamless integration of ICD-11 and SNOMED CT codes enhances interoperability and data exchange among healthcare systems, ultimately improving patient care and outcomes.
In the United States, ICD-11 is not yet in use. The U.S. is currently using ICD-10-CM (Clinical Modification), which has been adapted from the WHO’s ICD-10 to better suit the American healthcare system’s requirements for billing and clinical purposes. The Centers for Medicare and Medicaid Services (CMS) have not yet set a specific date for the transition to ICD-11.
The situation in Europe varies by country. Some European nations are considering the adoption of ICD-11 or are in various stages of planning and pilot studies. However, as with the U.S., full implementation may take several years due to similar requirements for system updates and training.
🔎 Symptoms
Symptoms of hereditary folate deficiency anemia (3A02.0) may vary in severity depending on the individual. Common symptoms include fatigue, weakness, and pale skin due to a lack of red blood cells. Individuals may also experience shortness of breath, dizziness, and rapid heart rate as a result of inadequate oxygen delivery to tissues and organs.
Other symptoms of hereditary folate deficiency anemia may include irritability, headaches, and difficulty concentrating. Some individuals may develop nausea, lack of appetite, and weight loss due to gastrointestinal disturbances. In severe cases, individuals may experience neurological symptoms such as numbness and tingling in the extremities, balance problems, and cognitive impairment.
Individuals with hereditary folate deficiency anemia may also exhibit symptoms of megaloblastic anemia, which is characterized by abnormally large and immature red blood cells. This can lead to symptoms such as a swollen tongue, mouth sores, and changes in skin pigmentation. Individuals may also be more susceptible to infections due to a weakened immune system resulting from the lack of folate.
🩺 Diagnosis
Diagnosis of 3A02.0 (Hereditary folate deficiency anaemia) typically involves a thorough medical history and physical examination to assess symptoms such as fatigue, weakness, pale skin, and shortness of breath. Laboratory tests are essential in confirming the diagnosis, with blood tests including measures of red blood cell count, hemoglobin level, and markers of folate deficiency such as serum folate and red blood cell folate levels. Furthermore, genetic testing may be conducted to identify mutations in genes associated with hereditary folate deficiency anaemia, such as mutations in the SLC46A1 gene.
In addition to blood tests, bone marrow examination may be performed to assess the production of red blood cells and evaluate any abnormalities that may be present. This invasive procedure involves extracting a sample of bone marrow from the hip or breastbone under local anesthesia, which is then examined under a microscope for signs of megaloblastic anemia characteristic of folate deficiency. Imaging studies such as ultrasound or MRI may also be ordered to rule out other causes of anemia or to evaluate complications resulting from untreated or severe folate deficiency.
It is important for healthcare providers to consider other potential causes of anemia and folate deficiency, such as vitamin B12 deficiency or chronic medical conditions that may impair folate absorption or metabolism. Through a comprehensive evaluation of medical history, physical examination, and diagnostic tests, healthcare providers can accurately diagnose hereditary folate deficiency anaemia and develop an appropriate treatment plan tailored to the individual needs of the patient.
💊 Treatment & Recovery
Treatment for hereditary folate deficiency anemia typically involves folate supplementation to address the underlying deficiency. Folic acid, the synthetic form of folate, is commonly prescribed in oral tablet form. This supplementation helps to increase the levels of folate in the body, allowing for proper red blood cell production and alleviating symptoms of anemia.
In severe cases of hereditary folate deficiency anemia where oral supplementation is not effective or well tolerated, intravenous administration of folate may be necessary. This method allows for a more direct and rapid absorption of folate into the bloodstream, providing quicker relief of anemia symptoms. However, this route of administration is typically reserved for individuals with significant malabsorption issues or other complicating factors.
In addition to folate supplementation, individuals with hereditary folate deficiency anemia may also require other supportive treatments to manage symptoms and complications. For example, blood transfusions may be necessary in cases of severe anemia to quickly raise hemoglobin levels. Additionally, individuals may benefit from dietary counseling to ensure they are consuming sufficient folate-rich foods and are following a healthy diet to support overall health and well-being.
🌎 Prevalence & Risk
In the United States, hereditary folate deficiency anaemia, coded as 3A02.0 in the International Classification of Diseases, has a prevalence of approximately 1 in 100,000 individuals. This rare inherited disorder is characterized by a deficiency in the enzyme necessary for metabolizing folate, leading to impaired red blood cell production and subsequent anemia.
In Europe, the prevalence of hereditary folate deficiency anaemia is similar to that in the United States, with an estimated occurrence of 1 in 100,000 individuals. This condition is more commonly observed in populations with a history of consanguinity, as the genetic mutation responsible for the disorder is often passed down through generations in families with close blood relations.
In Asia, the prevalence of hereditary folate deficiency anaemia varies across different regions and populations. Data on the exact frequency of this disorder in Asian countries is limited, but it is believed to be comparable to that in the United States and Europe, with an estimated prevalence of 1 in 100,000 individuals. Further research and epidemiological studies are needed to better understand the distribution and impact of this rare genetic disorder in Asia.
Similarly, in Africa, the prevalence of hereditary folate deficiency anaemia is not well-documented. Limited research and data collection in African countries make it challenging to determine the exact frequency of this condition in the region. However, due to similar genetic factors and patterns of consanguinity in certain populations, it is likely that the prevalence of hereditary folate deficiency anaemia in Africa is consistent with that in the United States, Europe, and Asia, with an estimated occurrence of 1 in 100,000 individuals.
😷 Prevention
Prevention of Hereditary Folate Deficiency Anemia
One of the primary ways to prevent hereditary folate deficiency anemia is through proper dietary management. This involves ensuring that individuals with this genetic condition consume foods rich in folate, such as leafy green vegetables, citrus fruits, and legumes. Additionally, fortified foods and supplements may be recommended to help meet folate requirements.
Regular monitoring and management by a healthcare provider are essential in preventing complications associated with hereditary folate deficiency anemia. This may include routine blood tests to assess folate levels and the effectiveness of any dietary or supplemental interventions. Adjustments to treatment plans may be necessary based on these monitoring results.
Genetic counseling can also play a vital role in the prevention of hereditary folate deficiency anemia. By understanding the genetic basis of the condition and the potential risks of passing it on to future generations, individuals can make informed decisions about family planning and genetic testing. Early identification of at-risk individuals through genetic counseling can help facilitate timely interventions and prevent the development of anemia.
🦠 Similar Diseases
One disease that is similar to 3A02.0 is megaloblastic anemia, with a relevant code of 3A00. this type of anemia is characterized by abnormally large red blood cells, causing fatigue and weakness in affected individuals. Megaloblastic anemia can be caused by a deficiency in folic acid, which is essential for the production of red blood cells. Treatment usually involves supplementation with folic acid to correct the deficiency and improve symptoms.
Another related disease is pernicious anemia, with a relevant code of 3A00.2. This type of anemia is characterized by a deficiency in vitamin B12, which is essential for the production of red blood cells. Individuals with pernicious anemia may experience fatigue, weakness, and nerve damage due to the lack of vitamin B12. Treatment typically involves vitamin B12 injections to correct the deficiency and improve symptoms.
One more disease that is similar to 3A02.0 is sideroblastic anemia, with a relevant code of 3A09.0. This type of anemia is characterized by an inability of red blood cells to properly utilize iron, leading to an excess of iron in the blood. Sideroblastic anemia can result in fatigue, weakness, and an enlarged spleen in affected individuals. Treatment may involve supplementation with vitamin B6 to improve iron utilization and alleviate symptoms.