Familial primary pulmonary hypertension

Definition

Primary pulmonary hypertension is abnormally high blood pressure in the arteries of the lungs.

Alternative Names

Causes

The cause of primary pulmonary hypertension is unknown. When the cause is unknown, it is called idiopathic. Some cases are caused by a genetic defect, which may run in families.

In this condition, the small arteries of the lung become narrow, which makes it hard for blood to flow. Blood pressure increases. The right side of the heart must work harder to pump blood, and may eventually become enlarged. Eventually, progressive heart failure may develop.

Similar forms of pulmonary hypertension can develop in persons who take certain diet medicines, or who have severe lung disease, long-standing heart valve disease, or history of a chronic pulmonary embolism.

This disease is rare. It affects more women than men.

Symptoms

• Shortness of breath during activity
• Chest pain
• Weakness
• Fatigue
• Fainting
• Light-headedness during exercise
• Dizziness
• Leg swelling

Exams and Tests

A physical examination may show:

• Enlargement of the veins in the neck
• Normal breathing sounds
• Heart murmur
• Feeling of a pulse over the breastbone
• Liver and spleen swelling
• Leg swelling

In early stages of the disease, the exam may be normal or almost normal. The condition may take several months to diagnose. Asthma causes similiar symptoms and must be ruled out.

Tests may include:

• ECG
• Chest x-ray
• Echocardiogram
• Pulmonary function tests
• Nuclear lung scan
• CT scan of the chest
• Cardiac catheterization
• Pulmonary arteriogram

Treatment

There is no known cure. The goal of treatment is to control symptoms.

Medicines used to treat pulmonary hypertension include:

• Ambrisentan (Letairis)
• Bosentan
• Calcium channel blockers
• Diuretics
• Prostacyclin

Your doctor will decide which medicine is best for you.

Persons with advanced cases of pulmonary hypertension may need oxygen. If treatment with medications fails, suitable candidates may be helped by lung or heart-lung transplant.

Outlook (Prognosis)

The outlook has traditionally been poor, but new therapies may produce better results. Some people with this condition may develop progressive heart failure leading to death.

When to Contact a Medical Professional

Call your health care provider if:

• You begin to develop shortness of breath when you are active
• Shortness of breath worsens
• Chest pain develops
• Other symptoms develop

Most patients with primary pulmonary hypertension are treated at centers which specialize in the care of these patients.

McGoon M, Gutterman D, Steen V, et al. Screening, early detection, and diagnosis of pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest. 2004 Jul;126(1 Suppl):14S-34S.

Sahara M, Takahashi T, Imai Y, et al. New insights in the treatment strategy for pulmonary arterial hypertension. Cardiovasc Drugs Ther. 2006 Oct;20(5):377-86.

Hayes D Jr. Idiopathic pulmonary arterial hypertension misdiagnosed as asthma. J Asthma. 2007 Jan-Feb;44(1):19-22.

Austin ED, Loyd JE. Genetics and mediators in pulmonary arterial hypertension. Clin Chest Med. 2007 Mar;28(1):43-57.

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