Familial pulmonary capillary hemangiomatosis

Hemangiomatosis, familial pulmonary capillary, Pulmonary venoocclusive disease 2, PVOD2, PCH


Type of disease: Rare conditions

Familial pulmonary capillary hemangiomatosis happens when capillaries, which are small blood vessels, increase in number and spread throughout the blood vessels of the lungs and airways. The disorder is a rare cause of pulmonary hypertension, which is a type of high blood pressure that affects the arteries in the lungs and in the heart.

Symptoms of familial pulmonary capillary hemangiomatosis include difficulty breathing, coughing, having chest pain, and feeling tired. The symptom that differentiates familial pulmonary capillary hemangiomatosis from other similar disorders is the coughing up of blood.

Familial pulmonary capillary hemangiomatosis is a genetic condition caused by changes in the EIF2AK4 gene. We inherit our genes in pairs, one from each parent typically. This condition is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one-in-four chance (25%) of having the disease.

To diagnose this condition physicians will look at the family history, conduct a physical exam, and examine specific symptoms. Typically, physicians will conduct CT scans to look at the lungs and look for the enlargement of lymph nodes, which is a typical finding in this condition. Physicians may also take a lung biopsy, or a sample of the lung, in order to diagnose the condition.

Medical management of the symptoms is usually required and at some point getting a lung transplant may be needed. If you or a family member has been diagnosed with familial pulmonary capillary hemangiomatosis, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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