Summary about Disease
Iron-Refractory Iron Deficiency Anemia (IRIDA) is a rare form of iron deficiency anemia that does not respond well to oral iron supplementation. It is typically caused by mutations in the TMPRSS6 gene, which encodes matriptase-2, a protein involved in regulating hepcidin production. High levels of hepcidin block iron absorption from the gut and iron release from stores, leading to iron deficiency anemia despite adequate iron intake or oral iron supplementation.
Symptoms
The symptoms of IRIDA are similar to those of typical iron deficiency anemia, but they are often more persistent and less responsive to oral iron therapy. Common symptoms include:
Fatigue
Pale skin (pallor)
Weakness
Shortness of breath
Dizziness or lightheadedness
Headaches
Cold hands and feet
Brittle nails
Pica (craving non-food substances like ice or dirt)
Slow growth (in children)
Causes
IRIDA is primarily caused by genetic mutations in the TMPRSS6 gene. This gene provides instructions for making the matriptase-2 enzyme. Matriptase-2 normally suppresses the production of hepcidin, a hormone that regulates iron levels in the body. Mutations in *TMPRSS6* result in increased hepcidin production. Elevated hepcidin levels block iron absorption from the intestines and prevent iron release from storage sites (like the liver and spleen), leading to iron deficiency despite adequate dietary iron intake. IRIDA is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Medicine Used
The primary treatment for IRIDA is intravenous (IV) iron supplementation. Oral iron supplements are often ineffective because the elevated hepcidin levels prevent iron absorption. IV iron bypasses the intestinal absorption issue and allows iron to be directly delivered into the bloodstream. Sometimes erythropoiesis-stimulating agents (ESAs) are used, but only with careful monitoring and usually in conjunction with IV iron. Treatment may also include monitoring and managing any other symptoms related to the anemia.
Is Communicable
No, IRIDA is not a communicable disease. It is a genetic condition caused by mutations in the TMPRSS6 gene and is not infectious. It cannot be spread from person to person.
Precautions
Since IRIDA is a genetic condition, there are no general precautions to prevent acquiring the disease. For individuals with IRIDA, precautions are related to managing the condition and include:
Regular monitoring of iron levels and response to treatment.
Adherence to prescribed IV iron therapy.
Avoidance of excessive iron supplementation (oral) that may not be effective and could cause side effects.
Genetic counseling for individuals with IRIDA and their families.
How long does an outbreak last?
IRIDA is not an outbreak-related disease. It's a chronic condition caused by genetic mutations. The symptoms can persist throughout a person's life if not properly managed with iron infusions and monitoring.
How is it diagnosed?
Diagnosis of IRIDA typically involves:
Complete Blood Count (CBC): To assess red blood cell parameters and identify anemia.
Iron Studies: Including serum iron, ferritin, transferrin saturation (TSAT), and total iron-binding capacity (TIBC). These tests usually show low iron, low ferritin, and normal or low TIBC, similar to typical iron deficiency anemia, but with poor response to oral iron.
Hepcidin Levels: Measuring hepcidin levels can be helpful, as IRIDA patients often have inappropriately elevated hepcidin levels for their iron status.
Genetic Testing: Mutation analysis of the TMPRSS6 gene confirms the diagnosis.
Response to Oral Iron: Lack of response to oral iron supplementation is a key diagnostic clue.
Timeline of Symptoms
The timeline of symptoms can vary. IRIDA is often detected in infancy or early childhood when routine blood tests reveal anemia. However, some individuals might not be diagnosed until later in life if their symptoms are mild or misattributed to other causes. Symptoms are generally persistent and will continue until proper management with IV iron.
Important Considerations
Differential Diagnosis: It is important to differentiate IRIDA from other causes of iron deficiency anemia, especially those that are responsive to oral iron.
Genetic Counseling: Genetic counseling is recommended for affected individuals and their families to understand the inheritance pattern and risks of passing on the gene mutation.
Monitoring for Complications: Individuals with chronic anemia should be monitored for potential complications such as cardiac problems, developmental delays (in children), and fatigue-related issues.
Personalized Treatment: Treatment plans should be individualized based on the severity of the anemia, the patient's response to IV iron, and any other underlying health conditions.
Long-Term Management: IRIDA requires long-term management with regular monitoring of iron levels and IV iron infusions as needed.