Introduction

Fibromuscular dysplasia (FMD) is the abnormal growth of cells in the walls of arteries that can cause the blood vessels to “narrow or bulge” and affects predominantly people assigned female at birth (AFAB). This can affect several areas of the body, displaying different manifestations. Complications such as aneurysms can arise from FMD, affecting the quality of life of these individuals. Quality of life aims to describe the well-being of someone, weighing up the positive and negative aspects of their life. Some of the factors considered when assessing quality of life are physical health, mental health, education status, work environment and relationships.^1,2

People with FMD can have a lower quality of life due to their symptoms and how these are managed within society. It Is vital to assess the impact of the disease on the quality of life of the patients, to try and improve this, reducing mental health issues and improving their physical health.

Clinical manifestations of FMD 

The majority of the symptoms associated with FMD are vascular, here are the common vascular symptoms:³

Stenosis

• FMD often presents with stenotic lesions that narrow the arterial lumen, which can disrupt the normal blood flow towards the tissues
• Clinical implications: Stenosis can lead to hypertension, especially when the renal arteries are affected. It may also cause ischaemic symptoms and contribute to organ dysfunction

Aneurysm

• The formation of aneurysms, or abnormal dilations of arteries, is frequent in FMD. Aneurysms can develop in different arteries such as the carotid, renal, and coronary arteries
• Clinical implications: Aneurysms carry a risk of rupture, which can result in severe, potentially life-threatening haemorrhages or other complications

Dissection

• Arterial dissection involves a tear in the wall of an artery, causing a separation of the layers of the artery wall
• Clinical implications: Dissections can lead to acute symptoms such as pain, stroke, or other ischaemic events, depending on the artery affected

Arterial tortuosity 

• Arterial tortuosity the abnormal twisting or elongation of arteries is common in FMD. Specific patterns, for example, the S-curve in the internal carotid artery, are identified
• Clinical implications: Tortuosity can impact blood flow dynamics and may increase the risk of complications like spontaneous coronary artery dissection (SCAD)

Although these are the common symptoms displayed with FMD, a diagnosis cannot be made purely from the presence of aneurysms, dissections or tortuosity without stenotic lesions. This is because many vascular diseases lead to these symptoms. Nevertheless, if one of these clinical manifestations is observed alongside a focal or multifocal FMD lesion in a vascular bed, then a diagnosis could be reached.³

Clinical manifestations by type of FMD

The specific vascular territory disrupted affects the clinical manifestation of FMD.⁴ Here are the different types of FMD with their associated clinical manifestations:

Renal artery FMD 

Common symptoms:⁴

• Hypertension: often resistant to treatment
• Renal artery dissection: leads to flank pain and haematuria
• Renal infarction: caused by obstruction or damage to the renal artery
• Hypokalaemia: from secondary hyperaldosteronism, though less common
• Abdominal bruit: indicates turbulent blood flow

Clinical relevance: renal FMD can lead to serious issues like resistant hypertension and potential renal failure. 

Cranio-cervical FMD

Common symptoms:⁴

• Headache: often reported, particularly in cases with cerebrovascular involvement
• Pulsatile tinnitus: is described as a whooshing sound in the ears
• Dizziness
• Neck pain
• Cervical artery dissection: can lead to serious complications such as stroke
• Stroke and subarachnoid haemorrhage: serious outcomes that require prompt medical attention
• Horner syndrome and carotid bruit: indicative of severe arterial involvement

Clinical relevance: symptoms may range from mild to severe, affecting daily activities and increasing the risk of stroke. 

Mesenteric FMD

Common symptoms:⁴

• Postprandial abdominal pain: pain occurring after meals due to mesenteric ischaemia
• Weight loss and fatigue: often due to pain and malabsorption
• Epigastric bruit: reflects turbulent blood flow in the mesenteric arteries

Clinical relevance: can significantly affect digestion and overall nutritional status.

Subclavian FMD 

Common symptoms:⁴

• Upper arm weakness: due to compromised blood flow
• Arm claudication: pain or cramping during arm use
• Subclavian steal syndrome: occurs when blood flow is redirected, causing symptoms in the arm

Clinical relevance: affects upper body function and may contribute to upper extremity symptoms. 

Lower limb FMD 

Common symptoms:⁴

• Leg claudication: pain in the legs during physical activity
• Cold legs and ischaemic feet: indicate poor blood flow

Clinical relevance: impairs mobility and affects daily life.

Coronary FMD

Common symptoms:⁴

• Chest pain and shortness of breath: associated with coronary artery involvement
• Acute coronary syndrome: a serious condition requiring urgent treatment

Clinical Relevance: increases the risk of heart attacks and requires close monitoring.

Quality of life

Physical impact 

The physical impact on individuals suffering from FMD can directly affect their quality of life greatly. Pain every day has been shown to lead to a low quality of life. Compared to women in the general population, sufferers from FMD have been found to have a much higher likelihood of having migraines.^5,6

This is reinforced by data stating that 67.5% of FMD patients suffer from headaches.⁷ Lower physical component summary scores have been associated with migraines and neck pain, showing that these symptoms inhibit physical health. A study has also reported that patients with FMD have more than a three times higher likelihood of having a history of stroke than the general population. 

These direct disruptions to physical health affect the quality of life because it can be difficult to manage these symptoms and pain whilst carrying out daily activities. It can make it challenging to have independence as support might be necessary when suffering from symptoms such as migraines and dizziness. These physical symptoms make working, studying and socialising more difficult, reducing quality of life.⁶

Psychological and emotional impact

The psychological and emotional effects of FMD are significant, as the disabling symptoms such as migraines, dizziness, and pulsatile tinnitus can severely impact mental health. Research indicates that people affected by FMD often face psychological challenges, including anxiety and depression, with many describing physical symptoms as a major source of anxiety.^6,8

Historically, half of the FMD population reported experiencing anxiety or depression, highlighting the widespread mental health issues associated with the condition. In addition, mood disorders often accompany severe headaches in FMD patients, further exacerbating their emotional distress.^9,10

The unpredictability of FMD symptoms and potential complications add to the psychological burden of the patients. Living in constant fear, especially of strokes, was reported by many individuals alongside feelings of uncertainty and fear of death. This ongoing anxiety and fear can significantly deteriorate their mental health and overall quality of life.⁸

Studies also show that people with FMD often rate their health lower than their peers, especially those experiencing severe headaches and neck pain. The extensive symptom burden, including pain, fatigue, sleep difficulties, and balance issues, heavily affects the mental health and quality of life of FMD patients.

 It can be challenging to complete daily activities and socialise, affecting mental health. Managing FMD's symptoms continuously can strain mental health, highlighting the need for comprehensive care that addresses both physical and emotional well-being.^6,8

Social and occupational impact

FMD has a profound impact on both the social and occupational aspects of patients' lives and hence, quality of life. Many individuals with FMD require support from social workers to manage mental health issues, finances related to their medical condition, and legal matters.⁸ 

A significant social challenge for FMD patients is the scarcity of accessible specialised medical care. Many patients have experienced physicians who lack expertise in FMD, and those who are knowledgeable about the condition are inaccessible due to location. This lack of access to quality care directly inhibits quality of life as well as indirectly due to the added stress and anxiety experienced by healthcare.⁸

The responses of healthcare providers to patients' concerns and symptoms are crucial to their care experience. Patients frequently feel dismissed and not believed by their doctors, which can be extremely discouraging. Additionally, FMD patients often find that their healthcare is too focused on the medical aspects of their condition, neglecting the broader impacts on their overall well-being. Many patients express a desire for a more holistic approach to care that addresses not only their physical symptoms but also their mental, emotional, and social health.⁸

These social and occupational challenges underscore the importance of comprehensive support systems that cater to the diverse needs of FMD patients, ensuring they receive holistic care that enhances their quality of life in all aspects.

Summary 

FMD can severely affect people’s quality of life, decreasing mental and physical health. FMD causes a mental, physical and social impact on people’s quality of life, making it difficult for these individuals to manage pain daily. Common symptoms experienced include migraines, dizziness and tinnitus. Besides directly inhibiting physical health, FMD can also lead to depression and anxiety due to difficulties in socialising, working and forming relationships. It is also important that adequate healthcare support is accessible so patients feel listened to and supported.