Hemangiomatosis, familial pulmonary capillary

Familial Pulmonary Capillary Hemangiomatosis

Familial Pulmonary Capillary Hemangiomatosis (FPCH) is a rare genetic disorder characterized by the proliferation of capillaries within the lungs, leading to pulmonary hypertension and respiratory complications. This condition is part of a group of diseases known as pulmonary vascular diseases.

Pathophysiology

FPCH involves the abnormal growth of capillaries in the alveolar septa of the lungs. This proliferation can obstruct normal blood flow, increasing pulmonary vascular resistance and leading to pulmonary hypertension. Over time, this can result in right heart failure and other serious complications.

Genetics

FPCH is believed to have a genetic basis, often inherited in an autosomal dominant pattern. Mutations in certain genes, such as the EIF2AK4 gene, have been implicated in the development of this condition. Genetic testing can help confirm a diagnosis and identify carriers within a family.

Clinical Presentation

Patients with FPCH may present with symptoms such as:

• Dyspnea (shortness of breath)
• Fatigue
• Hemoptysis (coughing up blood)
• Chest pain
• Syncope (fainting)

These symptoms are often due to the increased pressure in the pulmonary arteries and the resultant strain on the heart.

Diagnosis

Diagnosis of FPCH typically involves a combination of:

• Clinical evaluation
• Imaging studies, such as chest X-rays and CT scans
• Pulmonary function tests
• Right heart catheterization
• Genetic testing for known mutations

A lung biopsy may be necessary to confirm the presence of capillary proliferation.

Treatment

There is no cure for FPCH, but treatment focuses on managing symptoms and slowing disease progression. Options may include:

• Oxygen therapy
• Medications to lower pulmonary blood pressure, such as endothelin receptor antagonists and phosphodiesterase inhibitors
• Anticoagulants to prevent blood clots
• In severe cases, lung transplantation may be considered

Prognosis

The prognosis for individuals with FPCH varies depending on the severity of the disease and the response to treatment. Early diagnosis and intervention can improve outcomes, but the condition can be life-threatening if not managed properly.

Research and Future Directions

Ongoing research aims to better understand the genetic and molecular mechanisms underlying FPCH, with the hope of developing targeted therapies. Clinical trials are exploring new treatment options that may improve quality of life and survival rates for affected individuals.

See Also

• Pulmonary hypertension
• Hereditary hemorrhagic telangiectasia
• Vascular anomalies

==

NIH genetic and rare disease info

• NIH info on Hemangiomatosis, familial pulmonary capillary

Hemangiomatosis, familial pulmonary capillary is a rare disease.