This article is an extensive exploration of the impacts you may be experiencing as a person affected by Fanconi Anaemia (FA). We will highlight the interaction between the heart and the lungs concerning the symptoms displayed by FA. We will present the extensive diagnostic tools and FA monitoring tests available to help maximise your quality of life. There is much more to be discovered about FA and how to treat it. This article will open the door to prospects that target one important question: How can we further improve the current quality of life associated with FA? 

Overview of fanconi anaemia

What is FA?

FA falls under the umbrella of inherited bone marrow failure where DNA is not repaired correctly (Bhandari Et al 2024). FA arises when there is a change in DNA which is known as a mutation. People are made up of 23 pairs of chromosomes and 22 of these are called autosomal chromosomes. FA is autosomal recessive, meaning both parents have to carry the FA mutation for you to be affected. There have been 23 genes involved in FA and a change in one of these can lead to FA (Mehta 2021). If you suffer from FA, you are expected to experience a progressive decrease in three different blood cells within the bone marrow: white blood cells, red blood cells, and platelets (NHS 2023).

Prevalence of FA

Symptoms of FA often begin to occur around the ages of 4-7 years (Sharma Et al 2022). FA is extremely rare and affects approximately 1 out of 136,000 newborns. FA is found in all races but remains more likely in the following ethnicities:

• South Africans
• Sub-Saharan Africans
• Spanish Gitanos

It is also apparent that US Ashkenazi Jews have a higher carrier rate where there have been reports of 1 in 100 people. This means they have the FA gene but are not affected by it (Bhandari Et al 2024).

Importance of the cardiopulmonary system

Structure and function of the heart and lungs

The heart is a crucial organ that pumps blood all over the body. The blood carries oxygen that is needed for the body to function normally and it also carries nutrients that are needed for survival (Gupta and Shea 2022). The lungs, another important organ within the cardiopulmonary system, guarantee that oxygen enters the blood and removes carbon dioxide from it as well. Air flows through your windpipe into narrower tubes called bronchi when you inhale then eventually reach air sacs called alveoli (NCBI 2023).

Why do the heart and lungs depend on each other

In your heart, chambers on one side process blood containing minimal amounts of oxygen. Later, these small blood vessels which are also known as capillaries are located in the lungs. When they reach here, they absorb oxygen from the alveoli in the lungs (Payen 2018). Then, this oxygen enters into left chambers via alveoli that serve as transfer sites for gases. The aorta functions as a major artery through which the heart pumps oxygenated blood to all parts of the body. The body relies on such oxygen for basic metabolic activities (Wagner 2023).

Cardiopulmonary complications in Fanconi Anaemia

Mechanisms where FA causes cardiac complications

Red blood cells contain a protein called Haemoglobin which carries oxygen in the blood. Due to FA reducing red blood cells, a common complication is chest pain. As there are fewer red blood cells, there is also less oxygen which means your heart has to work harder to keep up with your oxygen demand (Badireddy Et al 2023). 

Platelets help the blood clot when you cut yourself. With reduced platelet counts from FA, your blood will not clot as quickly. This causes thrombocytopenia (excessive bleeding). This can cause nose bleeds and petechiae (rash-like spots, often on the lower leg) (Jinna Et al 2023).

Other cardiac complications in FA

• Myelodysplastic syndrome (a form of cancer where red blood cells fail to develop normally)
• Ventricular septal defects (a hole in the wall of your heart)
• Cardiomyopathy (the heart works harder to pump blood)
• Congenital heart defects (affects the normal function of the heart) which include the following:
  • Patent ductus arteriosus
  • Aortic stenosis
  • Right aortic arch
  • Aortic coarctation
  • Tetralogy of Fallot
  • Pulmonary atresia

Mechanisms where FA causes pulmonary complications

Your white blood cell count is reduced if you have FA, which is known as leukopenia (Amjad Et al 2022, 2). When you have reduced white blood cells, it is considered that you are immunocompromised. This means your immune system is not as effective at fighting off infection(NHS 2023). As a result, you may experience recurrent infection as well as chronic inflammation (Grimes MD Et al 2019). An infection you might suffer from is pneumonia. Recurrent infection and chronic inflammation can result in interstitial lung disease such as pulmonary fibrosis (scarring of lung tissue).

Shortness of breath can occur as your body does not have enough oxygen due to reduced red blood cells (Turner Et al 2023). Recurrent infection may also cause you to be short of breath for the following reasons:

• You may have a build-up of mucus whilst you fight infection which blocks the airways
• Your airway may narrow from swelling of the lungs or tightening of muscles which is known as bronchoconstriction (Huxtable 2016) 

Diagnosis and management of cardiopulmonary complications

It is important to note that your diagnosis for FA complications may have a delay until bone marrow failure develops where you will have very low red blood cells, white blood cells and platelets. This will often happen as your cardiopulmonary symptoms progress and become more severe (Bhandari Et Al 2024). There are plenty of accessible diagnostic tools available for you when you are experiencing cardiopulmonary symptoms. These diagnoses are the gateway in the difficult journey you will experience in diagnosing FA. FA will likely be diagnosed with a chromosomal fragility test.

It is important that you regularly screen for symptoms you experience to effectively manage the progression of FA. Early detection and ongoing monitoring will give the best chances for an improved quality of life. This can help prevent the detrimental effect cardiopulmonary complications have on your health.

Cardiac evaluations

• Blood tests or complete blood count to show you how many normal blood cells you have (Cancer Research UK 2024)
• Echocardiogram to show how well your blood is moving throughout the heart
• Chest X-ray to show a visual image of your heart
• Electrocardiogram to confirm congenital heart diseases

Pulmonary evaluations

• Chest assessment using a stethoscope to listen for a build-up of mucus which can indicate an infection in your lungs (Reyes Et al 2024)
• Pulmonary function test to show how much air your lungs can hold

Treatment and management of cardiopulmonary complications in FA

There are supportive care options available to you which will improve your quality of life if you are experiencing low blood cell counts. This includes Growth Factor injections and blood transfusions, depending on the blood cells you need (NHS 2021). 

The option to have open heart surgery is available to you to close up the ventricular septal defect or to correct the complications from congenital heart defects (NHS 2021).

In order to directly treat low blood cell counts, stem cell transplants are an emerging way you can treat FA. Similarly, to tackle the complications from the source, an allogeneic bone marrow transplant will restore damaged blood cells (Satty Et al 2023). Regarding Myelodysplastic syndrome, this type of transplant is the only current option available to cure FA patients.

Prognosis and quality of life

The prognosis (how the disease affects you) of FA is unfortunately poor. Severe cases can cause death at the early age of 10 years, without diagnosis. Due to improving diagnosis and knowledge of FA, people affected by FA are expected to live to around the age of 30 years in developed countries. It has to be emphasised that this does bring an increased prevalence of myelodysplastic syndrome and so it is important to monitor the symptoms of FA(Bhandari Et Al 2024).

Future directions

The poor prognosis of FA means there is a great necessity for future research to lessen the great impacts that you go through. In case you are suffering from FA, there are positive future possibilities in running. It was mentioned at the start of this article that a change in any one of the 23 genes is responsible for FA. There are current gene therapies that can only work with one mutation among these genes. However, some studies suggest that other gene mutations can be given an early-life gene therapy option which provides a better chance for treatment. Gene editing has also been suggested, which is where your affected genes will be physically changed. (Martinez-Balsalobre Et al 2023). There are also upcoming new therapies in stem cell research. Stem cells can divide into any cell, including white blood cells, red blood cells and platelets (Martinez-Balsalobre Et al 2023). This news is positive as increasing your blood cell counts would be critical in improving your quality of life with FA by reducing the severity of the symptoms discussed.  

FA has an extensive impact on your quality of life, so therapies and medications are the beginning. Prospects of FA need to focus on comprehensive care approaches including counselling and guidance.

Summary

Cardiopulmonary complications associated with FA can have a significant toll on your quality of life and prognosis. There are many effective ways in which you can help manage FA. With FA being a condition that reduces your blood cell counts over time, cardiac issues can arise such as chest pain, cardiomyopathy and congenital heart defects. These complications also impact the lungs, and you can expect to be at risk of chronic lung conditions and increased infections. With diagnosis occurring for severe symptoms, there are plenty of options available to help you manage FA complications. This includes surgery, medications and screening.  

Considering the prognosis is poor, guidance and knowledge from medical professionals are critical in improving your quality of life. This will in turn give you the best chance to reduce the impacts associated with FA and quality of life. It is key that you are on top of noticing any changes in your symptoms and quality of life, which may relate to the complications discussed in this article.