Exploration of Patient Characteristics and Quality of Life in Patients with Lipoedema Using a Survey

Lipoedema is an adipose tissue disorder that was first described more than 75 years ago by Allen and Hines [1]. To date, there is little scientific evidence available on lipoedema. To gain better understanding of this frequently neglected and misdiagnosed disorder, it is particular important to collect further epidemiological, clinical and therapeutic evidence [2]. The goal of this study is to characterize lipoedema from the patient perspective.

The onset of lipoedema is usually at or soon after puberty up to the third decade of life [3, 4], with some cases reporting late onset after pregnancy or even menopause [4]. Although lipoedema is not currently recognized as a hereditary disease, the familial nature of the condition suggests that lipoedema can demonstrate heritability. Positive family history varies between 15 and 64 %, with no specific genes disclosed that explain inheritance [1, 4‐6]. Clinical features such as easy bruising and pain upon pressure have been reported in 82 and 71 %, respectively [4]. Other complaints are a sensation of heaviness or discomfort in the legs that is worsened with pressure and mild pitting oedema [5]. Additionally, knee pain was described in 55 % of cases. Although knee pain can be found in “simple” obesity, it appears to be a phenotypic feature of lipoedema, even in patients with normal body mass index (BMI) [4].

Lipoedema has a massive effect on patients’ lives, and approximately 85 % say lipoedema affects their mental health and ability to cope with life [7]. In addition, altered body shape leads to low self-esteem, and many have lack of confidence, depression, self-harm thoughts and suicidal thoughts [8]. Furthermore, lipoedema restricts social life and relationships, including sexual activities [8]. Quality of life may be affected by decreased physical functioning and associated comorbid conditions such as obesity, venous varicosis and secondary lymphoedema [9].

Specific diagnostic tests for lipoedema are not available. Thus, diagnosis is based on examination and history, making it important for clinicians to understand the morphology of lipoedema and its unique features [3]. Characteristics are bilateral symmetrical fat deposition confined to the legs, thighs and buttocks, with sparing of the feet, which results in a “reverse shouldering” effect, also known as the “cuff sign” [3, 4, 10]. Due to this local fat deposition, a disproportionate ratio arises between the trunk and lower extremities [10]. The first manifestation of lipoedema may be filling of the retro-malleolar sulcus on both lower extremities [10].

The exact aetiology of lipoedema is still unclear, but multiple hypotheses have been proposed. Lipoedema is suspected to have a polygenetic susceptibility, which is affected by feminine hormonal changes [11]. These genes, coding for vasculo- or lymphangiogenesis under the influence of oestrogen, are suspected to cause the primary endothelial barrier dysfunction and lymphangiopathy [11]. Furthermore, oestrogen plays an important role in region-specific sympathetic innervation of subcutaneous adipose tissue. This might cover innervation abnormalities and concomitant inflammation of sensory nerves [11].

During the last decade, more evidence about surgical interventions has become available, while conservative treatment remains uncharted. Manual lymphatic drainage (MLD), intermittent pneumatic compression therapy, kinesio taping and multilayer bandaging are examples of conservative treatments [7]. Although there is a lack of clinical evidence, compression is perceived to reduce lipoedema symptoms and prevent progression of its lymphatic component, while enhancing mobility and function [7, 10]. Liposuction with tumescent local anaesthesia as surgical intervention demonstrated lower sensitivity to pressure, less bruising, less oedema, fewer restrictions of movement and less cosmetic impairment [6, 12]. Despite the fact that more data are available about surgical therapy, the clinical and epidemiological side remain unexposed.

The goal of this article is to evaluate patient characteristics, quality of life, physical complaints and comorbidities in patients with lipoedema. We report findings using surveys that provide lipoedema characteristics from the patient perspective.

A survey was carried out by email, consisting of informed consent, demographic details and multiple questionnaires. In 2011, the Department of Dermatology of Maastricht University Medical Centre posted a call on the Dutch Lipoedema Association website. Participants who responded received an email with the questionnaires. All patients aged 18 years and older, regardless of BMI and disease stage, were included. Participation in this study was voluntarily, and no incentives were offered. This study was approved by the Medical Ethics Committee of Maastricht University Medical Centre.

In total, 414 patients responded to the message and received an email. A total of 163 questionnaires were returned. Almost all questionnaires were complete and filled out correctly. Frequency distributions corresponding to socio-demographic variables and clinical characteristics are presented in Table 1.

In this study, we investigated disease characteristics and quality of life in patients with lipoedema using questionnaires. Our goal was to assess general health, frequent complaints and quality of life to gain better understanding of the lipoedema population. Furthermore, the relation between comorbidities and the effect on QOL was assessed. To our knowledge, this is the first article to put these items in order. Below we discuss our findings in the light of existing literature.

The age at diagnosis (38.3 years) is relatively high compared with the onset of complaints (20.0 years). With complaints starting at puberty, many women are not aware that they have developed lipoedema. Furthermore, lipoedema is not known or recognized by all clinicians, causing patients to visit multiple professionals. A previous study showed that lipoedema was only seen and recognized by 46.2 % of 251 consultants who were part of the Vascular Society of Great Britain and Ireland [19]. Moreover, lipoedema is frequently misdiagnosed as lymphoedema, chronic venous insufficiency or obesity [10, 20]. Literature showed that onset during puberty occurred in 55–78 % of cases [4, 8]. In agreement with this, our study showed 64.2 % of onset in the 10–19 years group. Child et al. showed that 27 out of 38 patients (71 %) experienced swollen legs which were painful upon pressure, quite a bit lower compared with the 87.7 % we found [4]. The relatively small sample size they used may, at least partly, account for this difference. However, there was only a small difference in easy bruising, which was 85.9 % in our study compared with 82 % in theirs [4].

To prevent disease progression in children of lipoedema patients, it is important to discuss inheritance. Familial involvement was reported in 35 %. Positive family history in other studies varied between 15 and 64 %, with no specific genes disclosed that explain inheritance [4, 20‐22]. This outcome may be even higher, because 40.5 % did not know whether family members had lipoedema. It is not verified whether the diagnosis was accurate, since it is only based on questionnaires. On the other hand, the “unknown” option makes the outcome of familial involvement more reliable.

The overall RAND-36 score in this study (59.3) is considerably lower than the mean Dutch female RAND-36 score (74.9) [14]. Every subdomain except for health change was significantly lower in lipoedema patients, with physical parameters showing the greatest differences. An explanation might be that increased leg size causes mechanical hindrance and restricts mobility, resulting in physical limitations and reduced vitality [10]. Also, complaints such as pain, burning sensation and pain upon pressure have a negative effect on quality of life [10]. Ineffective treatments, stigmatization, contradictory advice and uncontrollable changes in body appearance can lead to learned helplessness, self-stigmatization, feelings of shame and guilt, and body dissatisfaction [3, 4, 23, 24]. Previous mentioned factors can influence emotional and social functioning. The quality of life of lipoedema patients, measured by the EQ-5D questionnaire, was also lower than the general Dutch female population (66.1 and 85, respectively) [18]. In particular, pain or discomfort was reported frequently. Some pain or discomfort was reported by 74.1 % of lipoedema patients compared with 31.1 % of the Dutch female population. Extreme pain or discomfort was reported in 16.7 and 2.1 %, respectively [25].

Cardiac and thyroid disease were reported frequently compared with a healthy population. Prevalence of hypothyroidism among Dutch females lies at around 25 per 1000 [26]. Although hypothyroidism (11.7 %) and hypertension (18.4 %) are more prevalent in our study group, both are associated with obesity [27, 28]. Patients with comorbidities reported lower QOL, which varies directly with the severity of obesity among individuals, with the most obese individuals reporting the poorest QOL [29]. The comorbidity group had BMI of 36.6 compared with 29.7 kg/m² in patients without comorbidities, which might explain the difference in QOL.

This research provides information about complaints, quality of life and comorbidities in lipoedema patients. Patients experience significantly lower quality of life regarding physical, emotional and social functioning compared with the general Dutch female population. Physical complaints such as pain upon pressure, easy bruising and pain are very common, and comorbidities, such as cardiac and thyroid disease, are frequently seen. We recommend evaluating comorbidities and optimizing their therapy, as they have a large impact on QOL. Inheritance should be discussed to prevent disease progression after puberty. This study provides general information that can help identify the diagnosis by increasing awareness and knowledge. Further research should focus on how to optimize treatment for lipoedema patients, including special attention to patient quality of life.