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iron metabolism disease
ICD-10 Codes
Related ICD-10:
Description
Iron metabolism diseases refer to a group of disorders that affect the body's ability to regulate iron levels, leading to either iron deficiency or iron overload.
Causes and Risk Factors
- Genetic variations in HFE and TFR2 genes can lead to relative hepcidin deficiency, causing iron metabolism disorders [9].
- Increased dietary heme iron and high body iron stores, as measured by serum ferritin, are associated with an increased risk of type 2 diabetes and other metabolic disorders [1].
Types of Iron Metabolism Diseases
- Iron Deficiency: Characterized by decreased iron levels in the body, leading to anemia of chronic disease. This can be caused by genetic variations, increased blood loss, or limited external supply of iron [6][7].
- Iron Overload: Also known as hemochromatosis, this condition is characterized by excessive iron accumulation in the body, leading to various organ damage and disorders [1].
Effects on Organs
Iron metabolism diseases can affect various organs, including:
- Liver: Iron overload can lead to liver damage and cirrhosis.
- Heart: Excessive iron levels can cause cardiac dysfunction and arrhythmias.
- Pancreas: Iron overload can lead to pancreatic damage and diabetes mellitus.
- Skin: Iron deficiency can cause skin problems such as anemia-related dermatitis.
- Joints: Iron overload can lead to joint pain and arthritis.
Prevention and Treatment
While there is no cure for iron metabolism diseases, early detection and treatment can help manage symptoms and prevent complications. This includes dietary changes, iron supplements, and in severe cases, organ transplantation.
References:
[1] - Context result 1 [6] - Context result 6 [7] - Context result 7 [9] - Context result 9
Additional Characteristics
- **Iron Deficiency**
- * Characterized by decreased iron levels in the body, leading to anemia of chronic disease. This can be caused by genetic variations, increased blood loss, or limited external supply of iron [6][7].
- **Iron Overload (Hemochromatosis)**
- * Characterized by excessive iron accumulation in the body, leading to various organ damage and disorders [1].
- Organ effects:
- * Liver: Iron overload can lead to liver damage and cirrhosis.
- * Heart: Excessive iron levels can cause cardiac dysfunction and arrhythmias.
- * Pancreas: Iron overload can lead to pancreatic damage and diabetes mellitus.
- * Skin: Iron deficiency can cause skin problems such as anemia-related dermatitis.
- * Joints: Iron overload can lead to joint pain and arthritis.
Signs and Symptoms
Iron metabolism diseases can manifest in various ways, depending on the specific condition and its severity. Here are some common signs and symptoms:
Early Signs
- Weakness and fatigue [1]
- Increased skin pigmentation [2]
- Hair loss [2]
- Impotence and loss of sex drive [2]
- Joint pains [2]
- Memory loss [2]
Later Signs
- Hypotension (low blood pressure) [1]
- Metabolic acidosis (a condition characterized by excessive acidity in the body fluids) [1]
- Liver disease, including cirrhosis [10]
- Heart arrhythmia and heart disease [10]
- Diabetes [10]
- Hormonal problems, such as hypothyroidism [10]
Specific Symptoms
- Pain in joints, particularly hands, which can result in arthritis [11]
- "Iron fist" pain in the knuckles of pointer and middle fingers [11]
- Liver disease symptoms, including jaundice (yellowing of skin) [12]
Complications
- Cirrhosis and liver failure [13]
- Increased risk for conditions like diabetes or heart disease due to iron overload [15]
It's essential to note that not everyone with an iron metabolism disease will experience all of these symptoms. Some people may have high levels of iron without any problems, while others may develop severe symptoms. Symptoms often don't appear until middle age and can be mistaken for other conditions.
References:
[1] Early signs of iron poisoning within 6 hours include vomiting and diarrhea, fever, hyperglycemia, and leukocytosis. [2] Early signs are nonspecific and may include: Weakness and fatigue; Increased skin pigmentation; Hair loss; Impotence and loss of sex drive; Joint pains; Memory loss; [10] The Signs and Symptoms of Iron Overload: While the symptoms are often silent in the early stages of hereditary hemochromatosis or iron overload, as it progresses it can lead to: Heart arrhythmia; Diabetes; Hypothyroidism; Hormonal problems; Loss of libido; Infertility; Impotence; Heart disease; Liver disease and cirrhosis; Yellowing of the skin ... [11] Pain in your joints is one of the most common symptoms of hemochromatosis, caused by iron deposits in the joints that can result in arthritis. Any joint can be affected, but hands are often the first place you will feel pain. [12] Liver disease. What are the symptoms of hemochromatosis? Not every person with hemochromatosis develops symptoms. Some people with high levels of iron don’t have any problems, while others experience very serious symptoms. Symptoms usually don’t appear until middle age, and they often look like signs of other conditions. [13] With more severe iron overload, people may develop signs and symptoms of complications, such as cirrhosis, ... In these situations, the level of iron is high enough to worsen the underlying liver disease. [15] This can result in iron overload, causing symptoms like fatigue, joint pain, and hormonal changes and increasing your risk for conditions like diabetes or heart disease.
Additional Symptoms
- Hypotension (low blood pressure)
- Diabetes
- Metabolic acidosis
- Joint pains
- Weakness and fatigue
- Increased skin pigmentation
- Impotence and loss of sex drive
- Liver disease, including cirrhosis
- Heart arrhythmia and heart disease
- Pain in joints, particularly hands, which can result in arthritis
- 'Iron fist' pain in the knuckles of pointer and middle fingers
- Jaundice (yellowing of skin)
- Cirrhosis and liver failure
- memory loss
- hair loss
Diagnostic Tests
Iron studies, also known as iron profile, are a group of blood tests used to assess iron status in the body. These tests help diagnose various iron-related conditions, including iron deficiency anemia, iron overload, and disorders of iron metabolism.
Common Diagnostic Tests for Iron Metabolism Diseases:
- Serum iron (SI) test: measures the amount of iron in the blood [1]
- Transferrin saturation (TSAT) test: measures the percentage of transferrin that is saturated with iron [2]
- Serum ferritin (SF) test: measures the amount of ferritin, a protein that stores iron, in the blood [3]
- Soluble transferrin receptor (sTfR) test: measures the amount of sTfR, a protein that binds to transferrin and releases iron [4]
- Erythrocyte protoporphyrin (EP) test: measures the amount of EP, a pigment produced when iron is not available for hemoglobin production [5]
Other Diagnostic Tests:
- Complete blood count (CBC): measures various components of the blood, including red and white blood cell counts, to diagnose anemia and other conditions [6]
- Bone marrow biopsy: examines bone marrow cells to diagnose disorders of iron metabolism and other conditions [7]
- Liver biopsy: examines liver tissue to diagnose disorders of iron metabolism and other conditions [8]
Importance of Early Detection:
Early detection and intervention are crucial in managing iron-related diseases. Treating patients with non-anaemic iron deficiency (NAID) often increases haemoglobin further into the normal range and improves symptoms [9]. Therefore, it is essential to diagnose and treat iron metabolism disorders promptly.
References:
[1] Iron studies, also known as iron profile, are a group of blood tests used to assess iron status in the body. These tests help diagnose various iron-related conditions, including: ... Iron metabolism is a tightly regulated process that ensures the body maintains adequate iron stores for vital functions while preventing iron overload, which can ...
[2] An array of iron laboratory tests is available with variable indications. Clinical trial and iron absorption data support a shift to lower-dose oral iron therapy.
[3] The bioactive circulating form of hepcidin is 25 amino acids in size. N-terminal degradation leads to smaller isoforms (hepcidin-24, -23, -22) that are also biologically active.
[4] Biochemical assessment of iron status relies on serum-based indicators, such as serum ferritin (SF), transferrin saturation, and soluble transferrin receptor (sTfR).
[5] Iron deficiency anemia is typically caused by inadequate intake of iron, chronic blood loss, or a combination of both.
[6] To diagnose iron deficiency anemia, your doctor may run tests to look for: Red blood cell size and color. With iron deficiency anemia, red blood cells are smaller and paler than normal.
[7] Symptoms include fatigue, weakness, headaches, pale skin, shortness of breath, and irregular or strong heartbeats.
[8] Apr 10, 2024 — Iron tests measure different substances in the blood to check iron levels in your body. Iron is a mineral that your body needs for growth and development.
[9] To diagnose iron deficiency anemia, your doctor may run tests
Additional Diagnostic Tests
- Bone marrow biopsy
- Complete blood count (CBC)
- Liver biopsy
- Soluble transferrin receptor (sTfR) test
- Serum iron (SI) test
- Transferrin saturation (TSAT) test
- Serum ferritin (SF) test
- Erythrocyte protoporphyrin (EP) test
Treatment
Iron metabolism diseases, also known as iron overload disorders, can be treated using various drug therapies to manage and reduce iron levels in the body.
Medications for Iron Overload
- Deferiprone: This chelating agent is used to remove excess iron from the body. It works by binding to iron ions and facilitating their excretion through urine [2].
- Deferoxamine: Another chelating agent, deferoxamine is administered intravenously or subcutaneously to reduce iron levels in the blood [5].
- Deferasirox: This oral chelator is used to treat iron overload in patients with beta-thalassemia and other conditions. It works by binding to iron ions and promoting their excretion through feces [7].
Other Therapeutic Options
- Chelating drugs like L1: These can be used to redistribute iron from the reticuloendothelial system directly or via transferrin to the erythropoietic tissues for increasing hemoglobin production [13].
- Gene therapy approaches: New developments in treating iron-related diseases originate from defective or impaired genes, where monogenetic diseases like beta-thalassemia or sickle cell disease show promising curative gene therapy approaches [10][12].
Treatment Goals
The primary goal of drug treatment for iron metabolism diseases is to reduce iron levels in the body and prevent complications such as organ damage. Treatment plans are often tailored to individual patients based on their specific condition, age, and overall health status.
References: [2] Deferiprone, deferoxamine, deferasirox and other chelating drugs can offer therapeutic solutions for most diseases associated with iron metabolism. [5] Iron dextran is given intravenously, because intramuscular administration frequently leads to complications. [7] Deferiprone, deferoxamine, deferasirox and other chelating drugs can offer therapeutic solutions for most diseases associated with iron metabolism. [10] New developments in the treatment of iron-related diseases originate from defective or impaired genes where monogenetic diseases like beta-thalassemia or sickle cell disease show the most promising curative gene therapy approaches. [12] New developments in the treatment of iron-related diseases originate from defective or impaired genes, where monogenetic diseases like beta-thalassemia or sickle cell disease show the most promising curative gene therapy approaches. [13] Chelating drugs such as L1 can also be used in other abnormalities of iron metabolism such as in the treatment of the anemia of chronic disease.
Differential Diagnosis
Differential Diagnosis of Iron Metabolism Diseases
Iron metabolism diseases can be challenging to diagnose due to their complex presentation and overlapping symptoms with other conditions. The differential diagnosis for iron deficiency without anemia is broad, as the majority of the symptoms are non-specific and seen in many other conditions.
Key Considerations:
- Thalassemia: A genetic disorder that affects hemoglobin production, leading to microcytic anemia.
- Sideroblastic Anemias: A group of disorders characterized by abnormal iron accumulation within mitochondria of red blood cell precursors.
- Anemia of Chronic Disease (ACD): A condition where chronic inflammation or infection leads to impaired iron utilization and erythropoiesis.
- Lead Poisoning: Exposure to lead can cause microcytic anemia, among other symptoms.
Diagnostic Approaches:
- Laboratory Tests: Serum ferritin, transferrin saturation (TSAT), and hepcidin levels can help differentiate between iron deficiency anemia and ACD.
- Imaging Studies: Radiological findings may be necessary to rule out underlying conditions such as thalassemia or sideroblastic anemias.
Clinical Considerations:
- Risk Factors: Presence of risk factors such as chronic disease, inflammation, or genetic predisposition can guide the differential diagnosis.
- Symptom Profile: The clinical presentation, including symptoms like fatigue, weakness, and shortness of breath, can help narrow down the differential diagnosis.
Management Strategies:
- Iron Supplementation: Oral iron therapy may be used to treat iron deficiency anemia.
- Addressing Underlying Conditions: Treatment of underlying conditions such as chronic disease or lead poisoning is essential for managing ACD and other related disorders.
References:
- [10] Iron deficiency anaemia (IDA) and anaemia of chronic disease (ACD) are the most prevalent causes of iron-related anaemia in subjects with gastrointestinal disorders contributing significantly to morbidity and mortality.
- [11] The differential diagnoses for iron deficiency without anemia are broad as the majority of the symptoms are non-specific and seen in many other conditions.
- [14] The ratio of sTFRC to ferritin, which is low in iron deficiency anemia and high in chronic disease anemia, is useful in the differential diagnosis between the two conditions.
Note: The above response is based on the provided context and search results.
Additional Differential Diagnoses
- Sideroblastic Anemias
- Anemia of Chronic Disease (ACD)
- Lead Poisoning
- thalassemia
Additional Information
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