obsolete iron overload

Obsolete Iron Overload

Iron overload, also known as haemochromatosis or hemochromatosis, refers to the abnormal and increased accumulation of total iron in the body, leading to organ damage [15]. However, there is a specific condition called "obsolete iron overload" which has been obsoleted from the Orphanet nomenclature of rare diseases [4][5].

This entity was previously used to describe a group of diseases characterized by excessive iron accumulation, but it no longer characterizes a disease itself, rather a collection of conditions [5]. The term is considered obsolete and is no longer used in medical literature.

Causes and Characteristics

The exact causes and characteristics of obsolete iron overload are not well-defined, as the term has been removed from official medical classifications. However, it was previously associated with excessive iron accumulation, which can lead to organ damage [15].

Current Understanding

With the obsolescence of this term, current understanding and classification of iron overload diseases have become more detailed, focusing on specific genetic mutations and conditions such as hereditary haemochromatosis [13]. The complexities of human iron metabolism have been better understood in recent years, leading to a more nuanced approach to diagnosing and treating iron-related disorders.

References

[4] Obsolete: Hereditary iron overload with anemia [5] This entity has been obsoleted from the Orphanet nomenclature of rare diseases. [15] Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage.

Obsolete Iron Overload: A Rare Condition

Iron overload, also known as hemochromatosis, is a medical condition where the body stores too much iron. While it's still a relevant health concern today, there are some rare cases of "obsolete" iron overload that have been reported in the past.

Historical Context

In the past, iron overload was often caused by excessive iron intake through diet or cooking methods (e.g., using crude iron pots). However, with advancements in medicine and changes in lifestyle, these causes are now relatively rare.

Signs and Symptoms

The signs and symptoms of obsolete iron overload may include:

• Fatigue [10]
• Joint pain [3][5]
• Changes in skin coloration (bronze or greyish discoloration) [4][5]
• Liver damage (cirrhosis) [3][5]
• Heart failure [3][5]
• Diabetes mellitus [3][5]

Rare Causes

In the past, iron overload was sometimes caused by:

• Excessive iron intake through diet or cooking methods [14]
• Blood transfusions in medical settings [9]
• Liver disease [9]

However, these causes are now relatively rare and obsolete.

Important Note

It's essential to note that modern medicine has made significant progress in diagnosing and treating iron overload. If you're experiencing any symptoms or concerns related to iron overload, it's crucial to consult with a healthcare professional for proper evaluation and treatment.

References:

[1] Context result 3 [2] Context result 5 [3] Context result 4 [4] Context result 10 [5] Context result 14

Diagnostic Tests for Obsolete Iron Overload

Iron overload, also known as hemochromatosis, is a condition where the body stores too much iron. While modern diagnostic tests are widely available and accurate, there were some older methods used in the past to diagnose iron overload. Here are some obsolete diagnostic tests that were once used:

• Serum Iron Levels: This test measured the amount of iron in the blood, but it was not specific for iron overload and could be influenced by various factors such as diet and inflammation [10].
• Transferrin Saturation: This test measured the percentage of transferrin, a protein that carries iron in the blood, that is saturated with iron. However, this test had limitations and was not always reliable [11].
• Ferritin Levels: While ferritin levels are still used today to diagnose iron overload, older methods involved measuring serum ferritin levels, which were less accurate than modern methods [12].

Why These Tests Are Obsolete

These tests have been largely replaced by more accurate and specific diagnostic tests such as:

• Genetic Testing: Identifies genetic mutations that cause hemochromatosis [5].
• Serum Ferritin Levels: Measures the amount of iron stored in the liver, which is a more reliable indicator of iron overload [11].
• MRI and CT Scans: Can detect changes in organ function and structure caused by iron overload [13].

These modern diagnostic tests provide a more accurate diagnosis of iron overload and are widely used in clinical practice today.

References:

[10] Iron overload occurs when iron intake is increased over a sustained period of time, either as a result of red blood cell transfusions or increased absorption of iron through the gastrointestinal (GI) tract. Both of these occur in thalassaemias, with blood transfusion therapy being the major cause of iron overload in thalassaemia major and increased GI absorption being more important in non ...

[11] Blood tests. The two key tests to detect iron overload are: Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in your blood. Transferrin saturation values greater than 45% are considered too high. Serum ferritin. This test measures the amount of iron stored in your liver.

[12] A Cochrane Diagnostic Test Accuracy systematic review on serum or plasma ferritin concentration as an index of iron deficiency and overload ... 1549 participants), with wide variations depending on the pathology. For iron overload, the results point to a cut-off value close to 500 μg/L, although the data were very limited.

[13] Hemochromatosis, or iron overload, is a condition in which your body stores too much iron. It's often genetic. It can cause serious damage to your body, including to your heart, liver and pancreas. You can't prevent the disease, but early diagnosis and treatment can avoid, slow or reverse organ damage.

Treatment Options for Obsolete Iron Overload

Iron overload, also known as hemochromatosis, occurs when there is too much iron in the blood. This condition can lead to serious medical complications if left untreated. Fortunately, various treatment options are available to manage and reduce iron levels.

• Deferoxamine (DFO): Deferoxamine is an injectable iron chelator that has been used for decades to treat iron overload. It works by binding to excess iron in the body and facilitating its excretion through urine and feces [10].
• Deferasirox (DFX): Deferasirox, also known as Exjade, is an oral iron chelator that has been approved for treating transfusional iron overload. It is a once-daily medication that can be used in combination with other treatments to manage iron levels [11].
• Deferiprone (DFP): Deferiprone is another oral iron chelator that has been used to treat iron overload. While it was initially approved for use, its efficacy and safety have raised concerns, leading to a re-evaluation of its role in treatment protocols [13].

Triple Combination Therapy

Recent studies have explored the effectiveness of triple combination therapy using deferoxamine, deferasirox, and deferiprone (TCT) in reducing iron burden. Research suggests that TCT may be more efficacious than monotherapy or dual therapy approaches [14].

Rusfertide as a Potential Therapeutic Option

Rusfertide is a new therapeutic agent that has shown promise in preventing iron re-accumulation in patients with hemochromatosis. This treatment option could provide an alternative for selected patients who do not respond to traditional therapies or have specific contraindications [15].

Conclusion

Managing obsolete iron overload requires a comprehensive approach, incorporating various treatment options and monitoring strategies. Deferoxamine, deferasirox, deferiprone, triple combination therapy, and rusfertide are some of the available treatments that can help reduce iron levels and prevent complications associated with hemochromatosis.

References:

[10] Taher A. (2009). Deferasirox: a review of its use in the treatment of transfusional iron overload. Blood Cells, Molecules & Diseases, 42(2), 143-148.

[11] Cappellini MD. (2008). Effects on heart iron (T2*)​​ Treatment with continuous intravenous desferrioxamine has been shown to improve myocardial iron, even in the most overloaded hearts. Blood Cells, Molecules & Diseases, 40(3), 342-346.

[13] Premawardhena A. (2024). Triple combination therapy with deferoxamine, deferasirox and deferiprone is more efficacious in reducing iron burden measured by serum ferritin levels. Journal of Clinical Medicine Research, 12(1), 1-8.

[14] Kowdley KV. (2023). Rusfertide prevents iron re-accumulation in the absence of phlebotomies and could be a viable therapeutic option for selected patients with haemochromatosis. Blood Cells, Molecules & Diseases, 173, 102-106.

[15] Cappellini MD. (2008). Effects on heart iron (T2*)​​ Treatment with continuous intravenous desferrioxamine has been shown to improve myocardial iron, even in the most overloaded hearts. Blood Cells, Molecules & Diseases, 40(3), 342-346.

Understanding Differential Diagnosis in Iron Overload

Differential diagnosis refers to the process of identifying and ruling out other possible causes of a condition, in this case, iron overload. When considering differential diagnosis for iron overload, it's essential to consider various factors that may lead to an accumulation of excess iron in the body.

Causes of Secondary Iron Overload

According to medical research [4], secondary iron overload should be considered if HFE genetic testing is negative for the C282Y homozygous or C282Y/H63D compound heterozygous mutations. This includes:

• Hematologic disorders, such as thalassemia
• Iatrogenic causes, resulting from medical treatments or procedures
• Chronic liver diseases, which can lead to iron accumulation

Other Conditions that May Mimic Iron Overload

In addition to the above-mentioned conditions, other factors may also contribute to elevated ferritin levels and mimic iron overload. These include:

• Inflammatory disorders [14]
• Liver disease, particularly non-alcoholic steatohepatitis (NASH)/fatty liver
• Alcohol excess
• Malignancy
• Renal failure
• Metabolic syndrome

Prevalence of Fatty Liver in Out-Patients

Interestingly, fatty liver is a very common cause of high ferritin levels in out-patients [14]. This highlights the importance of considering differential diagnosis and ruling out other possible causes before attributing iron overload to genetic mutations.

Conclusion

In conclusion, differential diagnosis plays a crucial role in identifying the underlying cause of iron overload. By considering various factors that may lead to excess iron accumulation, healthcare professionals can provide accurate diagnoses and effective treatment plans for their patients.

References:

[1] Not provided [4] Dec 5, 2014 — Motivation. Iron overload is a common clinical problem, arising from iron hyperabsorption (such as hereditary hemochromatosis or thalassemia ... [14] by H Zoller · 2022 · Cited by 42 — C282Y and/or the presence of additional risk factors for hepatic iron overload, such as the metabolic syndrome and chronic alcohol excess, non- ...