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Endomyocardial Fibrosis

Disease Details

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Description: Endomyocardial fibrosis is a rare, chronic condition characterized by the thickening and scarring of the inner lining of the heart chambers, leading to impaired heart function.
Type: Endomyocardial fibrosis is a type of restrictive cardiomyopathy. It does not have a clear pattern of genetic transmission as it is primarily influenced by environmental factors, although genetic predisposition may play a role in some cases.
Signs And Symptoms: Depending on eosinophil target-organ infiltration, the clinical presentation of hypereosinophilic syndrome (HES) varies from patient to patient. Individuals with myeloproliferative variant HES may be more likely to experience mucosal ulcerations involving the genitalia or airways, while patients with lymphocytic variant HES typically exhibit prominent skin symptoms such as urticarial plaques, angioedema, and erythroderma. Myeloproliferative variant HES is far more common in men and is typically linked to symptoms more typical of myeloproliferative disorders, including anemia, splenomegaly, hepatomegaly, and fibrotic disease (particularly of the heart).Patients can develop a range of nonspecific symptoms, including fever, diarrhea, rash, angioedema, weakness, exhaustion, coughing, and dyspnea.The common and non-specific cutaneous manifestations are either erythematous, itchy papules and nodules that resemble eczema, or urticarial and angioedematous lesions. These types of lesions are frequently the main clinical consequence of hypereosinophilia in patients with lymphocytic-HES.Cardiac involvement typically progresses through three phases. Rarely, the early necrotic stage involving the endo-myocardium manifests as acute heart failure. In most cases, however, there are no symptoms. A thrombotic stage ensues after this one, during which thrombi form in the cardiac chambers along the injured endocardium and may separate, resulting in peripheral emboli. Endomyocardial fibrosis causes irreversible restrictive cardiomyopathy in the final stage of fibrosis, and damage to the atrioventricular valves may cause more acute presentations of congestive heart failure.Both the peripheral (polyneuropathy) and central (diffuse encephalopathy) nervous systems may be affected by neurological manifestations. Disorientation, memory loss, and altered behavior and cognitive function are the symptoms of diffuse encephalopathy. Symptoms of peripheral neuropathies can include mixed sensory and motor complaints, symmetric or asymmetric sensory alterations, or pure motor deficits. Stroke or brief ischemic episodes can happen after intracardiac thrombi have been embolised peripherally. In certain patients, procoagulant therapy may result in thrombosis of the intracranial veins (lateral sinus and/or longitudinal vein). This condition is linked to persistent hypereosinophilia.When there are no radiological abnormalities, lung involvement can vary from a persistent dry cough and/or bronchial hyperreactivity to restrictive disease with pulmonary infiltrates. There have been isolated reports of acute respiratory distress syndrome development. Chronic illness may lead to the development of pulmonary fibrosis.Hematological manifestations include thrombocytopenia, anemia, splenomegaly, and hepatomegaly. Patients may occasionally exhibit mild lymphadenopathy.HES patients may experience coagulation problems. It is thought that long-term hypereosinophilia may both directly stimulate coagulation and damage the endovascular surface, which would explain peripheral vasculopathy.Abdominal pain, diarrhea, nausea, and vomiting are a few examples of gastrointestinal symptoms. There may be colitis, enterocolitis, or eosinophilic gastritis; if eosinophilic infiltrates affect the intestinal wall's deeper layers, colitis may be linked to ascitis.
Prognosis: Endomyocardial fibrosis (EMF) typically has a variable prognosis. It largely depends on the extent of the disease, the presence of complications, and how early it is diagnosed and managed. In milder cases or when caught early, timely treatment can help manage symptoms and improve quality of life. However, in more advanced stages, EMF can lead to severe heart failure and other complications, which can significantly worsen the prognosis. Regular follow-up with a healthcare provider is crucial for managing the disease effectively.
Onset: The onset of endomyocardial fibrosis typically occurs in childhood or young adulthood. It is more prevalent in tropical and subtropical regions, especially in sub-Saharan Africa, parts of Asia, and South America. The exact cause of onset is not well understood but it may involve a combination of genetic, environmental, and possibly infectious factors. It progressively leads to the thickening and fibrosis of the endocardium and myocardium, which can severely affect heart function.
Prevalence: The prevalence of endomyocardial fibrosis (EMF) is not well-documented globally; however, it is more common in certain tropical and subtropical regions, particularly in parts of Africa, South America, and Asia. The precise prevalence can vary widely based on geographic and demographic factors.
Epidemiology: The European Medicines Agency (EMA) estimated the prevalence of HES at the time of granting orphan drug designation for HES in 2004 at 1.5 in 100,000 people, corresponding to a current case load of about 8,000 in the EU, 5,000 in the U.S., and 2,000 in Japan.
Intractability: Endomyocardial fibrosis (EMF) is often considered challenging to treat, and in many cases, it can be intractable. The disease involves the thickening and scarring of the endocardium, which can lead to heart failure and other complications. Treatment primarily focuses on managing symptoms and complications, as the fibrotic changes in the heart muscle are not reversible. In advanced cases, heart surgery may be required, but the overall prognosis can remain poor.
Disease Severity: Disease severity for endomyocardial fibrosis can vary widely. It can be asymptomatic in early stages but often progresses to severe symptoms. These can include heart failure, restrictive cardiomyopathy, and complications like arrhythmias and thromboembolism. The prognosis is generally poor without treatment, and the condition often necessitates medical or surgical intervention.
Healthcare Professionals: Disease Ontology ID - DOID:12932
Pathophysiology: Endomyocardial fibrosis (EMF) is characterized by the progressive fibrosis of the endocardium and inner myocardium, typically affecting the apical regions of the right and/or left ventricles. This fibrosis leads to the thickening and stiffening of the heart walls, impairing diastolic filling. Over time, this results in restrictive cardiomyopathy, where the heart becomes less able to pump blood effectively. The exact cause of EMF is not well understood, but it is thought to involve a combination of genetic predisposition, environmental factors, and possibly parasitic infections such as those caused by helminths. Inflammation, eosinophilia, and immune responses are also implicated in the disease process.
Carrier Status: Endomyocardial fibrosis (EMF) is not typically associated with a genetic carrier status. It is a form of restrictive cardiomyopathy characterized by the thickening of the endocardium and myocardium, often leading to heart failure. The exact cause of EMF is not well understood but is believed to be influenced by environmental factors, parasitic infections, and possibly genetic predispositions. Carrier status is not applicable as it is not a hereditary genetic disorder in the traditional sense.
Mechanism: It is possible that several mechanisms contribute to the pathophysiology of HES because of the clinical heterogeneity of its patients.Despite the lack of knowledge regarding the precise mechanism underlying eosinophil-induced tissue damage, eosinophil accumulation seems to have pathological outcomes. Eosinophils cause direct cytotoxicity by releasing harmful substances locally, such as enzymes, pro-inflammatory cytokines, reactive oxygen species, cationic proteins, and factors derived from arachidonic acid. The extent of end-organ damage varies, and the severity of organ damage is frequently unrelated to the degree or duration of eosinophilia.
Treatment: As a first-line treatment for HES patients' symptoms, corticosteroids are recommended. Because high-dose prednisone rapidly lowers eosinophil levels, it is usually started at a dose of 1 mg/kg/day. Upon achieving appropriate control over eosinophilia, the medication can be gradually reduced.Steroid-refractory HES has been managed with a variety of cytotoxic treatments. Out of all of them, hydroxyurea has been researched the most and has been linked to few side effects at doses as high as 2 g per day.It has been demonstrated that immunomodulatory drugs, such as interferon-alpha, cyclosporine, and intravenous immunoglobulin, that influence Th2 cytokine production and T cell proliferation can be therapeutically effective in HES.The U.S. Food and Drug Administration (FDA) has approved imatinib mesylate, a tyrosine kinase inhibitor, as the first treatment for HES.An option for patients who have not responded to conventional treatment regimens is a stem cell transplant.
Compassionate Use Treatment: Endomyocardial fibrosis (EMF) is a chronic condition that affects the heart's endocardium and myocardium, leading to fibrous tissue formation. For EMF, there are limited conventional therapeutic options, often focusing on symptom management and surgical intervention. Here are treatments under compassionate use, off-label, or experimental status:

1. **Compassionate Use Treatments**:
- **Corticosteroids**: While not typically approved specifically for EMF, they may be used in severe cases to reduce inflammation and slow fibrotic progression.

2. **Off-label Treatments**:
- **Interferon Therapy**: Though primarily used for viral infections and some cancers, interferon has been utilized off-label to modulate immune responses in EMF.
- **Anticoagulants and Antiplatelet Agents**: Used off-label to prevent thromboembolic complications in patients with advanced EMF.

3. **Experimental Treatments**:
- **Immunosuppressive Agents**: Investigational use of drugs like azathioprine or cyclophosphamide to manage immune-mediated components of EMF.
- **Antifibrotic Agents**: Such as pirfenidone and nintedanib, primarily used in idiopathic pulmonary fibrosis, are being explored for their potential to reduce myocardial fibrosis in EMF.
- **Gene Therapy**: Early-stage research into gene therapy targeting specific fibrogenic pathways.

Patients receiving these treatments are typically part of clinical studies or subjected to rigorous monitoring due to the experimental nature of these interventions.
Lifestyle Recommendations: For endomyocardial fibrosis, lifestyle recommendations may include:

1. **Regular Follow-up Appointments**: Regular visits to your cardiologist for monitoring the condition and adjusting treatments.
2. **Medication Adherence**: Closely follow the prescribed medication regimen to manage symptoms and prevent complications.
3. **Healthy Diet**: Emphasize a balanced diet rich in fruits, vegetables, whole grains, lean proteins, and low in saturated fats, sodium, and added sugars.
4. **Physical Activity**: Engage in moderate physical activities as recommended by your healthcare provider, such as walking or swimming. Avoid strenuous exercises that may stress the heart.
5. **Avoid Alcohol and Smoking**: Refrain from alcohol consumption and avoid smoking or exposure to secondhand smoke, which can aggravate heart conditions.
6. **Fluid Management**: Depending on your doctor’s advice, carefully manage fluid intake to avoid overloading the heart.
7. **Manage Stress**: Practice stress-reducing techniques such as meditation, yoga, or deep breathing exercises.
8. **Infection Prevention**: Maintain good hygiene and stay updated with vaccinations to prevent infections that can worsen heart conditions.
9. **Weight Management**: Maintain a healthy weight to reduce the strain on your heart.

Consult with a healthcare professional to tailor these recommendations to your specific condition and circumstances.
Medication: Endomyocardial fibrosis (EMF) is a type of restrictive cardiomyopathy characterized by fibrosis of the endocardium and myocardium, leading to heart failure. Medication management for EMF generally aims to alleviate symptoms and manage complications:

1. **Diuretics**: To reduce fluid overload and alleviate symptoms of heart failure by decreasing edema and pulmonary congestion.
2. **Beta-blockers**: To manage heart rate and reduce myocardial oxygen demand.
3. **ACE inhibitors or ARBs**: To lower blood pressure and reduce strain on the heart.
4. **Anticoagulants**: To prevent thromboembolic events, especially if atrial fibrillation is present.
5. **Corticosteroids**: In some cases, to reduce inflammation and slow disease progression.

Management should be individualized based on patient symptoms and disease severity, often under the guidance of a cardiologist knowledgeable in EMF.
Repurposable Drugs: Endomyocardial fibrosis is a chronic condition characterized by the thickening of the endocardium and myocardium, leading to restrictive cardiomyopathy. While there are no specific drugs approved solely for the treatment of endomyocardial fibrosis, some medications used to manage symptoms and complications include:

1. Corticosteroids: To reduce inflammation and fibrosis.
2. Anticoagulants: To prevent thromboembolic events.
3. Diuretics: To manage fluid overload and reduce symptoms of heart failure.
4. ACE inhibitors or ARBs: To manage hypertension and reduce cardiac workload.
5. Beta-blockers: To control heart rate and improve cardiac function.

These treatments are primarily aimed at symptom control and preventing complications. The repurposing of drugs initially developed for other fibrotic or inflammatory conditions is an area of ongoing research. Always consult with a healthcare professional for personalized medical advice and treatment options.
Metabolites: Endomyocardial fibrosis involves the thickening and fibrosis of the endocardium and inner myocardium. While specific metabolites directly associated with endomyocardial fibrosis are not well-established, disruptions in normal metabolic processes, including energy metabolism and collagen synthesis, are often implicated in fibrotic conditions. More detailed studies would be necessary to identify precise metabolic alterations in this disease.
Nutraceuticals: There is limited scientific evidence to support the use of nutraceuticals in the treatment of endomyocardial fibrosis (EMF). EMF is a rare and severe form of restrictive cardiomyopathy characterized by the thickening of the endocardium, leading to restricted heart function. Management typically focuses on addressing symptoms and complications through medications, such as diuretics and anticoagulants, or surgical interventions in severe cases. Nutraceuticals are not a standard part of treatment protocols for this condition. It is always essential to consult healthcare providers for appropriate diagnosis and treatment options tailored to individual cases.
Peptides: Endomyocardial fibrosis (EMF) is a form of restrictive cardiomyopathy characterized by the fibrous thickening of the endocardium, leading to impaired ventricular function. It is most commonly observed in tropical and subtropical regions.

Currently, there is limited research specifically linking peptides to endomyocardial fibrosis. However, recent studies in cardiac fibrosis in general have been exploring the role of various peptides, such as natriuretic peptides and collagen cross-linking inhibitors, in the regulation of extracellular matrix turnover and fibrosis.

Nanotechnology applications, like nanoparticles, are being investigated in cardiac diseases for diagnosis and targeted drug delivery, although their direct application to EMF remains largely experimental at this stage.