Chronic Thromboembolic Pulmonary Hypertension (CTEPH): Symptoms, Causes, Treatment

What are the symptoms of chronic thromboembolic pulmonary hypertension?

Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare but serious condition characterized by high blood pressure in the lungs due to blockages in the pulmonary arteries. The symptoms of CTEPH can be similar to those of other types of pulmonary hypertension and may include:

1. Shortness of Breath: This is often the most common and prominent symptom, initially with exertion and later at rest as the disease progresses.
2. Fatigue: Feeling tired or exhausted, even after minimal physical activity, is common in CTEPH.
3. Chest Pain: Some people with CTEPH may experience chest pain, especially during physical activity or exertion.
4. Dizziness or Fainting: This can occur as a result of the reduced blood flow and oxygen delivery to the brain.
5. Swelling: Swelling in the ankles, legs, or abdomen (edema) can occur due to fluid retention caused by the heart’s inability to pump effectively.
6. Palpitations: Sensations of a rapid or irregular heartbeat may occur.
7. Cough: A persistent cough, sometimes with bloody sputum, can occur in CTEPH.
8. Decreased Exercise Tolerance: Difficulty in performing physical activities or exercising as before.
9. Cyanosis: Bluish tint to the lips or skin due to low oxygen levels in the blood.
10. Right-sided Heart Failure: In advanced stages, CTEPH can lead to symptoms of right-sided heart failure, including abdominal swelling, liver enlargement, and fluid in the abdomen (ascites).

It’s important to note that the symptoms of CTEPH can vary widely among individuals, and some people may have few or mild symptoms initially. If you experience any of these symptoms, especially if they are persistent or worsening over time, it’s important to see a healthcare provider for an accurate diagnosis and appropriate management.

What are the causes of chronic thromboembolic pulmonary hypertension?

Chronic thromboembolic pulmonary hypertension (CTEPH) is primarily caused by the presence of blood clots (thrombi) that form in the pulmonary arteries and obstruct blood flow to the lungs. These blood clots can develop as a result of various factors, including:

1. Acute Pulmonary Embolism (PE): CTEPH often develops as a complication of acute pulmonary embolism, which occurs when a blood clot forms in a deep vein (deep vein thrombosis, or DVT) and travels to the lungs, blocking blood flow to a portion of the pulmonary arteries. While most cases of acute PE resolve with treatment, in some cases, the blood clot does not fully dissolve and becomes organized, leading to CTEPH.
2. Incomplete Resolution of Acute Pulmonary Embolism: In some cases, acute pulmonary embolism may not be fully treated or resolved, allowing residual blood clots to persist in the pulmonary arteries and contribute to the development of CTEPH.
3. Hypercoagulable Conditions: Certain medical conditions or factors that increase the risk of blood clot formation (hypercoagulable states) can predispose individuals to CTEPH. These may include genetic factors, such as factor V Leiden mutation or prothrombin gene mutation, as well as acquired conditions such as antiphospholipid syndrome or certain cancers.
4. Chronic Venous Thromboembolism (VTE): Individuals with a history of chronic venous thromboembolism, including recurrent deep vein thrombosis or pulmonary embolism, may be at increased risk of developing CTEPH.
5. Surgery or Trauma: Major surgery, especially orthopedic surgery involving the lower extremities, or severe trauma can increase the risk of blood clot formation and subsequent development of CTEPH.
6. Pregnancy and Childbirth: Pregnancy and childbirth are associated with an increased risk of venous thromboembolism, which may predispose some women to develop CTEPH.
7. Other Risk Factors: Other factors that may increase the risk of CTEPH include obesity, prolonged immobilization, smoking, and certain medications, such as hormone replacement therapy or oral contraceptives.

It’s important to note that while the presence of blood clots is the primary cause of CTEPH, not all individuals with a history of acute pulmonary embolism or venous thromboembolism will develop CTEPH. Additional factors, such as genetic predisposition and underlying medical conditions, may contribute to the development of the disease.

What is the treatment for chronic thromboembolic pulmonary hypertension?

The treatment for chronic thromboembolic pulmonary hypertension (CTEPH) aims to improve symptoms, improve quality of life, and prolong survival. The treatment approach for CTEPH may involve a combination of medical therapy, balloon pulmonary angioplasty, and surgery (pulmonary endarterectomy). The specific treatment plan will depend on the severity of the disease and the individual’s overall health.

1. Anticoagulant Therapy: Anticoagulant medications, such as warfarin or direct oral anticoagulants (DOACs), are often used to prevent new blood clots from forming and reduce the risk of worsening pulmonary hypertension.
2. Medical Therapy: Medications such as riociguat (a soluble guanylate cyclase stimulator) or endothelin receptor antagonists (such as bosentan, macitentan, or ambrisentan) may be used to improve symptoms and delay disease progression in patients who are not candidates for surgery.
3. Balloon Pulmonary Angioplasty (BPA): BPA is a minimally invasive procedure that involves inserting a catheter with a balloon at the tip into the pulmonary arteries to widen narrowed or blocked vessels. BPA can improve symptoms and hemodynamics in some patients with CTEPH.
4. Pulmonary Endarterectomy (PEA): PEA is a surgical procedure performed to remove organized blood clots (thromboemboli) from the pulmonary arteries. PEA is the treatment of choice for eligible patients with CTEPH and can significantly improve symptoms and outcomes in many cases.
5. Pulmonary Hypertension-targeted Therapy: In addition to anticoagulant therapy, medications used to treat pulmonary arterial hypertension (PAH), such as phosphodiesterase-5 inhibitors (e.g., sildenafil, tadalafil) or prostacyclin analogs (e.g., epoprostenol, treprostinil), may be used in some cases to improve symptoms and outcomes.
6. Oxygen Therapy: Supplemental oxygen therapy may be prescribed to improve oxygenation and reduce symptoms such as shortness of breath and fatigue.
7. Pulmonary Rehabilitation: Pulmonary rehabilitation programs can help improve exercise capacity and quality of life in patients with CTEPH.
8. Lifelong Follow-up: Patients with CTEPH require lifelong follow-up with a healthcare provider experienced in managing the disease to monitor symptoms, adjust treatment as needed, and address any complications.

The choice of treatment for CTEPH depends on various factors, including the severity of the disease, the presence of other medical conditions, and the patient’s preferences. Treatment decisions should be made in collaboration with a multidisciplinary team experienced in managing CTEPH.