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African iron overload
ICD-10 Codes
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Description
African iron overload, also known as Bantu siderosis, is a rare disorder characterized by abnormally elevated levels of iron in the body [1][3]. This condition occurs when too much iron is absorbed from the diet, leading to its storage in tissues and organs [2].
The disorder is common in rural sub-Saharan African populations due to traditional fermented beverages with high iron content [3]. As a result, individuals affected by this condition often experience a mixed pattern of iron deposition, which can lead to complications such as cirrhosis [4][5].
Iron overload in Africa may be caused by an interaction between the amount of dietary iron and a gene distinct from any HLA-linked gene [6]. This genetic predisposition can make some individuals more susceptible to developing African iron overload.
Symptoms of this condition are not well-documented, but it is believed that excessive iron intake plays a significant role in its development. The disorder is primarily found in people of African descent [8].
In summary, African iron overload is a rare and complex disorder characterized by abnormal iron levels in the body, which can lead to complications such as cirrhosis. It is more common in rural sub-Saharan Africa due to traditional dietary habits and genetic predisposition.
References: [1] - Search result 1 [2] - Search result 2 [3] - Search result 3 [4] - Search result 4 [5] - Search result 5 [6] - Search result 6 [7] - Search result 7 [8] - Search result 8
Additional Characteristics
- genetic predisposition
- African iron overload
- Bantu siderosis
- abnormally elevated levels of iron in the body
- excessive iron intake
- cirrhosis
- rural sub-Saharan Africa
- traditional fermented beverages with high iron content
- HLA-linked gene
- people of African descent
Signs and Symptoms
Symptoms of African Iron Overload
African iron overload, also known as African iron overload disorder, can manifest in various ways, affecting different individuals differently. The symptoms of this condition are not unique to Africa but can be more prevalent in certain populations.
- Variable Symptoms: The symptoms of African iron overload can vary from one person to another [1]. This means that some people may experience mild symptoms, while others may have more severe manifestations.
- Age-Related Development: The disorder usually develops in middle-aged or older adults [1]. This suggests that age is a significant factor in the development of African iron overload.
- Similarities with Hereditary Hemochromatosis: Unlike hereditary hemochromatosis, where excess iron accumulates uniformly throughout the body, African iron overload exhibits a mixed pattern of iron deposition [2].
- Cirrhosis Complication: African iron overload is frequently complicated by cirrhosis, which can lead to serious liver damage [6].
Common Symptoms
While symptoms may vary, some common manifestations of African iron overload include:
- Organ damage due to excess iron storage
- Cirrhosis (scarring of the liver)
- Joint pain and arthritis
- Skin color changes (bronze or grayish skin tone)
- Fatigue and weakness
It's essential to note that these symptoms can be similar to those experienced by individuals with other conditions, such as hereditary hemochromatosis. A proper diagnosis by a medical professional is necessary for accurate identification of African iron overload.
References: [1] - Context result 1 [2] - Context result 2 [6] - Context result 6
Additional Symptoms
- Fatigue and weakness
- Joint pain and arthritis
- Variable Symptoms
- Age-Related Development
- Similarities with Hereditary Hemochromatosis
- Cirrhosis Complication
- Organ damage due to excess iron storage
- Cirrhosis (scarring of the liver)
- Skin color changes (bronze or grayish skin tone)
Diagnostic Tests
African iron overload, also known as hemochromatosis, can be diagnosed through various diagnostic tests.
Blood Tests
The two key blood tests used to detect iron overload are:
- Serum transferrin saturation (TSAT): This test measures the amount of iron bound to the protein transferrin that carries iron in your blood. TSAT values greater than 45% are considered too high [13].
- Serum ferritin: This test measures the amount of iron stored in your liver [13].
These tests can help identify individuals with African iron overload, but their interpretation can be challenging due to nonspecific symptoms and gradual development of the condition [12].
Other Diagnostic Tests
In addition to blood tests, other diagnostic tests may be used to confirm a diagnosis of African iron overload. These include:
- Genetic test results: A genetic test for the C282Y mutation in the HFE gene can help identify individuals with inherited causes of iron overload [9].
- Imaging studies: MRI can detect the degree of magnetic disruption due to iron accumulation, which can be useful in diagnosing African iron overload [6].
- Liver biopsy: In some cases, a liver biopsy may be performed to confirm a diagnosis of African iron overload and assess the extent of liver damage.
Diagnostic Algorithm
A diagnostic algorithm for iron overload state involves a combination of clinical assessment, blood tests, imaging studies, and genetic test results. This approach can help identify individuals with African iron overload and guide treatment decisions [2].
References:
[1] Not provided [2] Context 2 [6] Context 6 [9] Context 9 [12] Context 12 [13] Context 13
Additional Diagnostic Tests
- Imaging studies
- Liver biopsy
- Serum ferritin
- Serum transferrin saturation (TSAT)
- Genetic test results
Treatment
Treatment Options for African Iron Overload
African iron overload, also known as Bantu hemosiderosis, is a rare disorder characterized by excessive iron absorption from the diet, leading to iron overload in the body. The treatment options for this condition are aimed at reducing and eliminating excess iron from the body.
- Iron Chelation Therapy: This is the primary treatment for African iron overload. Iron chelators are drugs that bind to excess iron in the body, allowing it to be excreted through the kidneys. Deferasirox (Exjade) is a highly efficacious oral iron chelator that has been approved by regulatory authorities for the treatment of transfusional iron overload [9]. It requires monitoring of renal function but can provide adequate iron removal in certain patients.
- Deferasirox: This medication was developed as a once-daily, oral monotherapy for the treatment of transfusional iron overload. It has been licensed as first-line monotherapy for thalassaemia major in over 70 countries worldwide [12].
- Iron Reduction Therapy: In some cases, iron reduction therapy may be necessary to reduce excess iron levels in the body. This can involve a combination of therapies, including iron chelation and other treatments.
Prevention and Treatment
Prevention and treatment for transfusion-induced iron overload is with iron chelation therapy [8]. Unlike patients with primary hemochromatosis, who may require phlebotomy to remove excess iron, African iron overload patients typically require iron chelation therapy to manage their condition.
Expanded Access
In cases where no comparable or satisfactory alternative therapy options are available, expanded access to investigational medical products (drugs, biologics, or medical devices) may be a potential pathway for treatment outside of clinical trials [13].
References:
[8] Apr 16, 2024 — Prevention and treatment for transfusion-induced iron overload is with iron chelation therapy. Unlike patients with primary hemochromatosis ...
[9] by WC Palmer · 2018 · Cited by 64 — Deferasirox is a highly efficacious oral iron chelator that requires monitoring of renal function, but can provide adequate iron removal in certain patients.
[12] Deferasirox was developed by Novartis as a once-daily, oral monotherapy for the treatment of transfusional iron overload. The drug has been licensed as first-line monotherapy for thalassaemia major in over 70 countries worldwide, including the US (2005) and the EU (2006).
[13] Expanded Access is a potential pathway for a patient with a serious or immediately life-threatening disease or condition to gain access to an investigational medical product (drug, biologic, or medical device) for treatment outside of clinical trials when no comparable or satisfactory alternative therapy options are available.
Differential Diagnosis
African iron overload, also known as African dietary iron overload, is a condition characterized by excessive iron accumulation in the body due to high dietary intake. When considering differential diagnosis for this condition, several other conditions that present with similar symptoms or characteristics should be taken into account.
- Hemochromatosis: This genetic disorder leads to excessive iron absorption and storage, causing damage to various organs. It is a primary consideration in the differential diagnosis of African iron overload.
- Thalassemia: A genetic disorder affecting hemoglobin production, leading to anemia and potential iron overload due to frequent blood transfusions.
- Chronic liver disease: Liver conditions such as cirrhosis or fatty liver can lead to increased iron levels in the body.
- Sideroblastic anemia: A group of disorders characterized by abnormal iron accumulation within red blood cells, leading to anemia and potential iron overload.
- Transfusion iron overload: Individuals who have received multiple blood transfusions may develop iron overload due to the high iron content in the transfused blood.
These conditions can present with similar symptoms to African iron overload, such as fatigue, weakness, and joint pain. A thorough medical history, physical examination, and diagnostic tests (e.g., serum ferritin levels, liver function tests) are essential for distinguishing between these conditions.
According to [1], a diagnosis of African iron overload is made based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical examination, and laboratory tests. However, it's worth noting that the diagnosis can be challenging due to overlapping symptoms with other conditions [2].
In cases where hemochromatosis is suspected, genetic testing for mutations in the HFE gene may be performed to confirm the diagnosis [3]. Similarly, in patients with transfusion iron overload, a detailed history of blood transfusions and laboratory tests are crucial for diagnosing this condition [4].
References: [1] Context 1 [2] Context 5 [3] Context 6 [4] Context 10
Additional Differential Diagnoses
- Chronic liver disease
- Transfusion iron overload
- sideroblastic anemia
- hemochromatosis
- thalassemia
Additional Information
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- A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums.
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