Ayerza syndrome: Description, causes and risk factors
Ayerza syndrome - sclerosis of the pulmonary arteries in chronic cor pulmonale; associated with severe cyanosis, it is a condition resembling polycythemia vera but resulting from primary pulmonary arteriosclerosis or primary pulmonary hypertension and characterized by plexiform lesions of arterioles.
Alternative Names: Plexogenic pulmonary arteriopathy, cardiopathia nigra.
Condition characterized by dyspnea, slowly developing asthma, bronchitis, and chronic cyanosis in association with polycythemia. Polycythemia usually results from chronic pulmonary insufficiency and sclerosis of the pulmonary vascular bed. Cardiac involvement may be present, usually in the form of dilatation and hypertrophy of the right heart. Pulmonary arterial hyperplasia and stenosis, emphysema, and fibrosis may be the contributing factors. Splenomegaly, clubbing of the fingers, congestion of the liver, and heart failure are associated.
Ayerza syndrome occurs as the result of mutations in the BMPR2 (Bone morphogenetic protein receptor type II) gene. This gene regulates the number of cells in body tissues. The BMPR2 mutation may prevent cell death or increase the rate of cell division. This causes an overgrowth of cells in the small bronchial arteries. This narrows the small arteries in the lungs, forcing the pulmonary artery to work harder.
Ayerza syndrome is inherited in an autosomal dominant pattern. This means that each cell has a copy of the mutated BMPR2 gene. When this disorder is inherited, geneticists refer to it as familial pulmonary artery hypertension. The disorder begins earlier in life as the mutated gene passes from one generation to the next.
Symptoms of Ayerza syndrome begin when the increased pressure in the pulmonary artery does not overcome the resistance in the smaller arteries of the lungs. This reduces blood flow to the body. Signs and symptoms of this condition include shortness of breath, fainting, swelling, chest pain, dizziness and racing pulse.
Tests and Procedures to Confirm a Diagnosis Include
Echocardiography: This test uses sound waves to create a moving picture of your heart. Echocardiography can estimate the pressure in your pulmonary arteries. The test also can show the size and thickness of your right ventricle and how well it's working.
Chest x ray: A chest x ray takes pictures of your heart and lungs. This test can show whether your pulmonary arteries and right ventricle are enlarged. The pulmonary arteries and right ventricle may get larger if the right ventricle has to work hard to pump blood through the pulmonary arteries.
Also, a chest x ray may show signs of an underlying lung disease that may be causing or contributing to PH.
EKG (electrocardiogram): An EKG is a simple test that shows how fast your heart is beating. It also shows whether your heart's rhythm is steady or irregular. An EKG may show whether your right ventricle is enlarged or strained.
Right heart catheterization: This procedure measures the pressure in your pulmonary arteries. It also shows how well your heart is pumping blood to the rest of your body. Right heart catheterization can find any leaks between the left and right side of the heart.
During this procedure, a thin, flexible tube called a catheter is put into a blood vessel in your groin (upper thigh) or neck. The tube is then threaded into the right side of your heart and into the pulmonary arteries. Through the tube, your doctor can do diagnostic tests and test treatments on your heart.
Lung function tests: Lung function tests measure the size of your lungs, how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. These tests can help find an underlying lung disease that may be causing PH.
Lung ventilation/perfusion (VQ) scan: This test measures air and blood flow in your lungs. A lung VQ scan can show whether there are blood clots in your lung's blood vessels.
Overnight oximetry: This test measures the level of oxygen in your blood overnight. A low oxygen level during sleep is common in PH, and it can cause the condition to worsen.
For this test, a small light is attached to your fingertip, earlobe, or toe. A machine that's attached to the light measures the amount of oxygen in your blood throughout the night. In the morning, the light is removed and your oxygen levels are recorded. Overnight oximetry can be done at home or in a sleep lab.
Blood tests: Blood tests are used to rule out other diseases, such as HIV, liver disease, and autoimmune diseases like rheumatoid arthritis.
Exercise testing: Exercise testing consists of either a 6-minute walk test or a cardiopulmonary exercise test. These tests can help find out whether another disease or condition is causing your symptoms. A 6-minute walk test measures the distance you can quickly walk in 6 minutes. A cardiopulmonary exercise test measures how well your lungs and heart work while you exercise on a treadmill or bicycle.
Although treatment of this disease consists primarily of that necessary for the underlying disease, several medications and oxygen are used in different clinical settings. Currently, definite proof of effectiveness is lacking for several of these treatments.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
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