Better quality of life for patients with worse vEDS, LDS, study finds

More depression, pain and fatigue found for those with milder hEDS

Patricia Inácio, PhD avatar

by Patricia Inácio, PhD |

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People with severe connective tissue disorders, namely vascular Ehlers-Danlos (vEDS) and Loeys-Dietz syndromes (LDS), have better quality of life than those with the milder hypermobile EDS (hEDS), according to a recent study.

Patients with vEDS or LDS experienced significantly less depression, pain, fatigue and sleep problems compared with people with hEDS.

According to researchers, fewer delays in diagnosing their disease — “the diagnosis delay is 9 years [longer] in hEDS than in” the more severe disorders — appear to aid people with vEDS and LDS to develop better coping abilities.

“Patients’ strategies to cope with stress are varied and mostly functional (e.g., positive reappraisal, social support, acceptance, and humor),” the team wrote of vEDs and LDS individuals — adding, however, that “more research in psychosocial aspects of people with these rare diseases are needed to confirm these results and better understand their needs.”

The study, “Adjustment to disease and quality of life in people with vascular Ehlers-Danlos and Loeys-Dietz syndromes: A mixed-method study,” was published in the journal Frontiers in Psychology.

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Both vascular Ehlers-Danlos and Loeys-Dietz syndrome are inherited conditions that can affect several organs in the body, most severely the cardiovascular system. Patients are at risk of developing tears in the lining of arteries, called spontaneous arterial dissections, and aneurysms, or outward bulging in blood vessels.

Being diagnosed with a severe disease often poses a burden to patients’ quality of life. However, few studies have addressed the impact or burden of disease specifically on vEDS and LDS patients.

Now, a team from France and Spain sought to investigate the coping mechanisms of people diagnosed with these two disorders — as well as examine key parameters of quality of life, including physical functioning, vitality, and general health.

All participants were recruited via the Spanish national patient association Asociación Nacional del Síndrome de Ehlers-Danlos e Hiperlaxitud. In total, 16 patients were included in the hereditary disorders of connective tissue with severe vascular complications group — the HDCTv group. Among them, nine had vEDS and seven LDS. Their mean age was 39, and 13 were women.

Ten patients (62.5%) had a family history of connective tissue disease, and six (37.5%) lost a family member due to that disorder. Also, 10 participants reported having experienced at least one arterial, digestive, or respiratory complication.

Included in the study as controls were 18 healthy people and 16 individuals with hEDS, which is the most common form of EDS and does not carry life-threatening complications.

In the first part of the study, the researchers evaluated quality of life using the 36-Item Short Form Health Survey (SF-36), in which lower scores indicate worse quality of life. Anxiety and depression were evaluated using the Hospital Anxiety and Depression Scale self-questionnaire (HADS), where higher scores correspond to more severe symptoms.

Adjustment to illness was assessed with the psychosocial Adjustment to Illness Scale (PAIS), where higher scores indicate lower level of adjustment. This scale is divided into seven sections: social environment, extended family relationships, sexual relationships, domestic environment, professional domain, health care orientation, and psychological distress.

Compared with the healthy controls, patients in the HDCTv group scored significantly higher for fatigue (mean 1.38 vs. 0.5) and usual sleep problems (1.63 vs. 0.50).

HDCTv patients had lower (worse) scores for physical function (68.7 vs. 97.7), vitality (50.9 vs. 63.3) and general health (41.0 vs. 77.7) compared with the healthy individuals.

Anxiety and depression also were worse in HDCTv patients compared with healthy controls. However, no participant was deemed to have clinically significant depression (HADS score above or equal to 11), whereas 25% had clinically significant levels of anxiety compared with 5.6% of the healthy controls.

The HDCTv group had a higher rate of patients with a partner compared with the hEDS group (81.3% vs. 43.8%). After controlling for this difference, the researchers found that the HDCTv group had significantly lower scores on usual pain (1.06 vs. 2.81), fatigue intensity (1.38 vs. 2.88), sleep problems (1.63 vs. 3), and depression (3.3 vs. 8.8).

The researchers noted that most HDCTv patients (93.8%) showed an optimal psychosocial adjustment to disease, compared with only 25% of patients in the hEDS group.

Clinically significant depression was detected in five hEDS patients. No significant differences in anxiety were observed between hEDS and HDCTv patients.

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In the second part of the study, the researchers conducted a qualitative analysis based on interviews. Most HDCTv patients (11 of 16) said it is possible to live a normal life, with a family and a job, outside of vascular complications. However, they highlighted the need to have precautions such as avoiding particular sports and preventing stress.

A dozen participants reported feeling worried or anxious regarding health problems, while 11 said they feel worried about the quality of life of family members with the disease.

“Psychologically, the only thing that annoys me is knowing that my nephews and my son have it too … I hope that nothing is going to happen to my son and that the diagnosis does not worsen,” one patient said.

Being diagnosed with vEDS or LDS was often lived as a hard experience, although eight patients said that naming their disease empowered them to take action to prevent complications.

Patients monitored their health and were aware of how this was important. Yet, four HDCTv participants reported dealing with a frequent lack of knowledge of health professionals.

“You have to see several doctors, the one who sees us annually doesn’t even want to take a blood test for fear that something will happen, it’s exaggerated … In general, there is a lot of ignorance in the medical world about the vEDS,” one participant said.

Our results suggest that despite the negative impact of [vEDS and LDS] on the patients’ daily lives, overall, they present an optimal disease adjustment which points to appropriate coping strategies.

Lifestyle changes, including healthy eating, exercise and job changes, were adopted by several patients to avoid complications. Twelve patients focused on personal growth, skills, values and reprioritization as coping strategies.

To become more resilient, participants relied on humor and optimistic thoughts. Six patients reported to have accepted their condition, which helped getting control of their lives.

Finally, 10 patients said family and friends’ support on a daily basis and during medical visits was key to overcome difficulties and fight negative emotions.

“Our results suggest that despite the negative impact of HDCTv on the patients’ daily lives, overall, they present an optimal disease adjustment which points to appropriate coping strategies,” the researchers wrote.

Among the study’s limitations, as noted by the researchers, was the small number of participants in the qualitative part of the study.