Ayerza syndrome is named after Abel Ayerza and encompasses the clinical features of pulmonary hypertension. It is a progressive disease with mixed etiology, characterized by increased resistance in the pulmonary blood vessels.
Presentation
Ayerza syndrome (AS) describes the signs of pulmonary (arterial) hypertension [1]. It is mostly diagnosed in adults and has a higher prevalence in females than males. Defined by a mean pulmonary artery pressure of more than or equal to 25 mmHg and a capillary wedge pressure of over 15 mmHg [2], this medical entity can arise from a number of pathologies that may be cardiac or pulmonary in origin, or related to other systemic diseases, drugs, and toxins. Conditions that precipitate AS include chronic obstructive pulmonary disease (COPD), interstitial lung disease and fibrosis, left heart failure, autoimmune diseases and human immunodeficiency virus (HIV) infection. A significant proportion of cases are idiopathic, with no apparent cause, of which 70% have a mutation in the bone morphogenetic protein receptor type 2 (BMPR2) gene [3] [4] and few have in other genes, for example, activin receptor-like kinase type 1 (ACVRL1). Up to 40% of those with no family history of pulmonary hypertension (PH) also carry the gene mutation [5]. PH is progressive and may lead to death, especially if left untreated. Patients typically experience an insidious onset of symptoms that initially occur during exercise, and worsen as the ailment progresses. Consequently, this causes a delay in presentation and diagnosis. Early signs include dyspnea, syncope, dizziness, and cough [6]. Late manifestations are usually due to the underlying or resultant cardiac dysfunction and venous congestion. Among those reported are angina, hyperactive precordium, paroxysmal nocturnal dyspnea, hemoptysis, raised jugular venous pressure, abnormal heart sounds, and edema. Less common complaints include signs of liver failure such as ascites, and digital clubbing, which appear in an advanced stage.
Workup
Diagnosis and investigation of AS involve a plethora of invasive and non-invasive techniques. These are done in order to gauge the presence of an underlying pathology as well as to plan treatment and map prognosis based on the severity of symptoms [7]. The diagnostic test for AS is right heart catheterization, as it allows direct measurement of the pulmonary arterial pressure (which will be above 25 mmHg) and thus confirms the condition. Pulmonary capillary wedge pressure may be within the normal range.
Laboratory examination includes full blood count, assessment of liver, thyroid and renal function, immunological assays, arterial blood gas analysis (ABGA), and human immunodeficiency virus (HIV) testing [8]. Cardiac biomarkers such as brain natriuretic peptide (BNP) may be raised, indicating heart abnormalities [9].
Imaging may involve:
- Electrocardiogram (ECG): Shows signs of ventricular hypertrophy.
- Echocardiogram.
- Spirometry, ventilation-perfusion (V/Q) scanning, and pulmonary angiography to measure lung function.
- Administration of vasodilators to provoke a dilation of the pulmonary vessels, such as nitric oxide and adenosine, as well as other tests for staging and treatment planning [10].
- Chest X-ray: Shows increased lung perfusion as well as enlarged pulmonary vessels.
- Computerized tomography: Useful in chronic thromboembolic pulmonary arterial hypertension.
- Magnetic resonance imaging (MRI).
Treatment
Treatment for Ayerza Syndrome focuses on managing symptoms and improving quality of life. Medications such as vasodilators can help relax and open the blood vessels, reducing pressure in the pulmonary arteries. Diuretics may be prescribed to remove excess fluid from the body, and oxygen therapy can assist with breathing difficulties. In severe cases, surgical options like lung transplantation may be considered.
Prognosis
The prognosis for Ayerza Syndrome varies depending on the severity of the condition and the patient's response to treatment. Early diagnosis and appropriate management can improve outcomes and extend life expectancy. However, the condition is progressive, and ongoing medical care is often necessary to manage symptoms and prevent complications.
Etiology
The exact cause of Ayerza Syndrome is not always clear, but it can be associated with other medical conditions such as connective tissue diseases, congenital heart defects, or chronic lung diseases. In some cases, it may be linked to genetic factors or environmental exposures, such as living at high altitudes.
Epidemiology
Ayerza Syndrome is considered a rare disease, with an estimated prevalence of 15 to 50 cases per million people worldwide. It can affect individuals of any age, but it is more commonly diagnosed in adults. Women are more frequently affected than men, and the condition can occur in all ethnic groups.
Pathophysiology
The pathophysiology of Ayerza Syndrome involves the narrowing or blockage of the pulmonary arteries, which increases resistance to blood flow and raises pressure in these vessels. This can lead to changes in the structure and function of the heart, particularly the right ventricle, which has to work harder to pump blood through the lungs. Over time, this can result in right-sided heart failure.
Prevention
Preventing Ayerza Syndrome can be challenging due to its complex and varied causes. However, managing underlying conditions such as heart or lung diseases, avoiding smoking, and maintaining a healthy lifestyle can help reduce the risk. Regular medical check-ups and monitoring for individuals at risk can also aid in early detection and management.
Summary
Ayerza Syndrome is a rare but serious condition characterized by high blood pressure in the pulmonary arteries. It presents with symptoms like shortness of breath and fatigue and requires a thorough diagnostic workup to confirm. Treatment focuses on symptom management and improving quality of life, with a variable prognosis depending on individual circumstances. Understanding the potential causes and risk factors can aid in prevention and early intervention.
Patient Information
For patients diagnosed with Ayerza Syndrome, it is important to follow a treatment plan tailored to their specific needs. This may include taking prescribed medications, attending regular medical appointments, and making lifestyle changes to support heart and lung health. Patients should be aware of their symptoms and communicate any changes to their healthcare provider to ensure optimal management of the condition.
References
- Mazzei JA, Mazzei ME. A tribute: Abel Ayerza and pulmonary hypertension. Eur Respir Rev. 2011;20(122):220–221.
- Badesch DB, Abman SH, Ahearn GS, et al. Medical therapy for pulmonary arterial hypertension: ACCP evidence-based clinical practice guidelines. Chest. 2004;126(1 Suppl):35S–62S.
- Deng Z, Morse JH, Slager SL, et al. Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene. Am J Hum Genet. 2000;67(3):737–744.
- Cogan JD, Pauciulo MW, Batchman AP, et al. High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertension. Am J Respir Crit Care Med. 2006;174(5):590–598.
- Machado RD, Aldred MA, James V, et al. Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension. Hum Mutat. 2006;27(2):121–132.
- Rubin LJ. Primary pulmonary hypertension. N Engl J Med. 1997;336(2):111–117.
- Barst RJ, McGoon M, Torbicki A, et al. Diagnosis and differential assessment of pulmonary arterial hypertension. J Am Coll Cardiol. 2004;43(12 Suppl S):40S–47S.
- Raymond R, Hinderliter A, Willis P, et al. Echocardiographic predictors of adverse outcomes in primary pulmonary hypertension. J Am Coll Cardiol. 2002;39(7):1214–1219.
- Torbicki A, Kurzyna M, Kuca P, et al. Detectable serum cardiac troponin T as a marker of poor prognosis among patients with chronic precapillary pulmonary hypertension. Circulation. 2003;108(7):844–848.
- Enright PL, McBurnie MA, Bittner V, et al. The 6-minute walk test: A quick measure of functional status in elderly adults. Chest. 2003;123(2):387-398.