Recurrent swelling and pain in the abdomen and joints in a patient with hereditary angioedema and Ehlers-Danlos syndrome

A 23-year-old woman was referred to the allergy and immunology clinic for recurrent abdominal, cutaneous and joint swelling and pain with a history of mucosal infections since childhood. Her history and clinical findings were suggestive of two rare and complex disorders, hereditary angioedema (HAE) and Ehlers-Danlos syndrome (EDS). Her recurrent episodes of abdominal and joint pain were initially misattributed to more common diagnoses such as esophagitis, depression and chronic pain syndrome. However, the coexistence of HAE and EDS likely contributed to a delay in diagnoses as the combination of these two rare but overlapping disorders is less understood by physicians. She had persistently low levels of C4 and C1-esterase inhibitor (C1-INH) with low to low-normal C1-esterase function, normal C1Q and no C1Q antibodies. In the setting of recurrent abdominal pain with cutaneous swelling, this supported the diagnosis of HAE type I. The increase in joint extensibility with recurrent shoulder subluxations since childhood was a manifestation of EDS. Although no known genetic mutations were identified for EDS, her diagnosis was confirmed by a geneticist based on her clinical phenotype. Before the diagnosis of HAE and EDS, our patient had at least 100 visits/year to the emergency department/hospitalisations for these recurrent symptoms. After starting on C1-INH replacement therapy, the frequency has decreased 10-fold. She also noted a 70% improvement in her quality of life. Familiarity with these rare disorders will assist healthcare providers in recognising HAE and EDS and include them as part of their differential diagnoses. Early diagnosis is important for a patient’s well-being as both these chronic disorders have been associated with poor quality of life. Additionally, proper diagnoses will reduce healthcare costs by preventing unnecessary procedures due to misdiagnoses. Proper treatment will help to decrease hospitalisations and avoidance of life-threatening consequences (such as asphyxiation from fatal laryngeal attacks of HAE and rupture of aneurysms in EDS).

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Pain Symptomatology and Management in Pediatric Ehlers–Danlos Syndrome: A Review

Children ◽

10.3390/children7090146 ◽

2020 ◽

Vol 7 (9) ◽

pp. 146

Author(s):

Estée C. H. Feldman ◽

Daniel P. Hivick ◽

P. Maxwell Slepian ◽

Susan T. Tran ◽

Pradeep Chopra ◽

...

Keyword(s):

Quality Of Life ◽

Psychological Interventions ◽

Pediatric Pain ◽

Connective Tissue Disorders ◽

Ehlers Danlos Syndrome ◽

Major Criterion ◽

Pain Characteristics ◽

The Relationship ◽

Danlos Syndrome

Ehlers–Danlos syndromes (EDS) are a group of connective tissue disorders that manifest with hyperextensibility of joints and skin, and general tissue fragility. While not a major criterion for clinical diagnosis, pain is a frequently endorsed symptom across subtypes of EDS. As such, the present review aims to summarize research to date on pain characteristics and management, and the relationship between such pain symptomatology and quality of life in pediatric EDS. Characteristics of pain, including theorized etiology, relative intensity and extent of pain are described, as well as descriptions of frequently endorsed pain sites (musculoskeletal, and non-musculoskeletal). Interventions related to the management of musculoskeletal (e.g., pharmaceutical intervention, physical therapy) and non-musculoskeletal pain (e.g., pharmaceutical and psychological interventions) are discussed, highlighting the need for additional research related to pediatric pain management in the context of hypermobility syndromes. In addition, the relationship between pain in pediatric EDS and quality of life is described. Finally, limitations of literature to date are described and recommendations for future lines of research are outlined.

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Correlation between quality of life and adherence to treatment in hemodialysis patients

Journal of Renal Injury Prevention ◽

10.15171/jrip.2019.05 ◽

2018 ◽

Vol 8 (1) ◽

pp. 22-27 ◽

Cited By ~ 1

Author(s):

Mahin Naderifar ◽

Mansoureh Zagheri Tafreshi ◽

Mahnaz Ilkhani ◽

Magid Reza Akbarizadeh ◽

Fereshteh Ghaljaei

Keyword(s):

Quality Of Life ◽

Healthcare Providers ◽

Life Quality ◽

Well Being ◽

Sample Volume ◽

Hemodialysis Patients ◽

Adherence To Treatment ◽

Medical Sciences ◽

The Mean

Introduction: Institutionalizing adherence to treatment in hemodialysis patients is one of the important nursing goals for improving quality of life in these patients. Adherence to treatment approach in these patients can play a pivotal role in improving the health level and feeling of well-being. Objectives: This study aimed at determining the quality of life in hemodialysis patients presenting to hemodialysis centers affiliated to Shahid Beheshti University of Medical Sciences, Tehran, Iran, on the basis of adherence to treatment. Patients and Methods: This is a correlational descriptive-analytic study. The study population consisted of hemodialysis patients in five hospitals affiliated to Shahid Beheshti University of Medical Sciences, Tehran, in 2017. The data were collected during 8 months from October 2016 to May 2017 in Tehran. A sample volume of 200 patients was determined in this study. Demographic information questionnaire, KDQOL-SF, and ESRD-AQ were applied in data collection. Availability sampling method was used to select the samples on the basis of inclusion criteria. The data were analyzed with SPSS version 18 using descriptive and inferential statistics. Results: Our findings showed that 50% of the patients were male. Most of the respondents of the study (23%) were 51-60 years old. The results indicated that the mean score of quality of life of patients was 50.42±22.81. The mean total score of adherence to treatment was 901.13±85.30. Also, the correlation coefficient in this study revealed a significant correlation between total score of quality of life and adherence to treatment (r=0.218, P<0.01). Conclusion: Considering the significant correlation between adherence to treatment and life quality of patients, healthcare providers can promote the life quality of these patients via focusing on planning programs for emphasizing the role of education and interventions that improve adherence to treatment in these patients.

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Quality of Life in Romanian Children with Type 1 Diabetes: A Cross-Sectional Survey Using an Interdisciplinary Healthcare Intervention

Healthcare ◽

10.3390/healthcare8040382 ◽

2020 ◽

Vol 8 (4) ◽

pp. 382

Author(s):

Constanta Urzeală ◽

Aura Bota ◽

Silvia Teodorescu ◽

Mihaela Vlăiculescu ◽

Julien S Baker ◽

...

Keyword(s):

Quality Of Life ◽

Type 1 Diabetes ◽

Well Being ◽

Healthcare Intervention ◽

Type I ◽

Cross Sectional ◽

Significant Difference ◽

Interdisciplinary Healthcare

Background: The purpose of this study was to assess the quality of life in Romanian type 1 diabetes mellitus (T1DM) children attending an early interdisciplinary healthcare intervention. Hypothesis: engaging T1DM children in leisure sports leads to a better quality of life. Methods: This research embeds a cross-sectional observational study, incorporating some clinical characteristics relevant for diabetes management. The Kidscreen 27 questionnaire was issued to 100 T1DM children aged between 7 and 17 years. Parents completed the questionnaire. All subjects received interdisciplinary healthcare in the previous year. Statistics were performed using SPSS, v20. The required sample size of 100 subjects was obtained with a confidence interval of 95% and a sampling error of 0.009. The tests were two-sided, with a type I error set at 0.05. Results: Subjects reached an increased level of physical well-being, psychological well-being, autonomy, parent relationships, peer and social support, and school inclusion. There was a significant difference (p < 0.05) between children who practice leisure activities and children who only participated in physical education (PE) classes, regarding their physical well-being (t = 2.123). ANOVA demonstrated significant differences between age groups regarding physical well-being. Conclusion: The interdisciplinary healthcare intervention increased the efficiency of T1DM management with positive effects on life quality.

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Impact of type I Boston keratoprosthesis implantation on vision-related quality of life

British Journal of Ophthalmology ◽

10.1136/bjophthalmol-2017-310745 ◽

2017 ◽

Vol 102 (7) ◽

pp. 878-881 ◽

Cited By ~ 10

Author(s):

Marcus Ang ◽

Ryan Man ◽

Eva Fenwick ◽

Ecosse Lamoureux ◽

Mark Wilkins

Keyword(s):

Quality Of Life ◽

Effect Size ◽

Retention Rate ◽

Well Being ◽

Type I ◽

Boston Keratoprosthesis ◽

Related Quality ◽

The Impact

AimTo determine the impact of type I Boston keratoprosthesis (KPro) implantation on vision-related quality of life (VRQoL).MethodsProspective study in 33 patients (mean age 56±12 years, 67% male) with bilateral corneal blindness, who underwent a KPro implantation at a single tertiary eye hospital (June 2011–July 2015). VRQoL was evaluated using the Impact of Vision Impairment Questionnaire (IVI) at baseline and at 3–6 months postsurgery, after stabilisation of best-corrected visual acuity (BCVA). Rasch analysis was used to transform the IVI responses into interval-level measures comprising the ‘reading’, ‘mobility’ and ‘emotional’ subscales with effect sizes calculated for pre-post VRQoL scores.ResultsMean preoperative BCVA was counting-fingers at 2 feet in the operated eye (20/240 fellow eye). Preoperative VRQoL scores: −2.27, –2.91 and −3.06 logits for the reading, mobility and emotional subscales, respectively. Device retention rate was 90% over the follow-up period (mean 26±12 months). We observed large gains for reading and mobility of 1.92 logits (effect size 0.88), and 2.64 logits (effect size 0.89) respectively, with a moderate gain in the emotional subscale of 2.11 logits (effect size 0.59). These improvements did not vary significantly with BCVA on multivariate analysis (all p>0.05).ConclusionWe observed a differential short-term improvement to VRQoL after KPro implantation with a significant impact on emotional well-being, which may not be fully explained by visual improvement alone. Further studies are required to confirm if these improvements in VRQoL are sustained in the long-term and are generalisable to other populations.

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Sexual Dysfunction in Patients with Neuropsychiatric Disorders: Challenges and Opportunities

CNS Spectrums ◽

10.1017/s1092852900026699 ◽

2006 ◽

Vol 11 (S9) ◽

pp. 4-4

Author(s):

Barry Gidal ◽

John J. Barry

Keyword(s):

Quality Of Life ◽

Sexual Dysfunction ◽

Adverse Effects ◽

Sexual Function ◽

Healthcare Providers ◽

Well Being ◽

Sexual Disorders ◽

Functional Impairments ◽

The Impact

Quality-of-life issues in healthcare have come to be of paramount importance for a population that increasingly expects healthcare not only to treat major illnesses but also to optimize normal levels of physical and psychosocial functioning and overall well-being. Healthcare providers have also increasingly appreciated the impact that adverse effects of treatment can have on quality of life, as well as on compliance with and the effectiveness of treatment.Many functional impairments and adverse treatment effects take the form of clinical complaints that patients and caregivers typically report to their healthcare providers without prompting. Other adverse effects are not so obviously clinical or treatment-related, and patients may not be inclined or may even be reluctant to bring them up when talking with the provider. Impairment of sexual function is a problem of this kind.Sexual dysfunction appears to be common and frequently underrecognized in certain patient populations. For example, it has been estimated that 25% to 63% of women and 10% to 52% of men with epilepsy have some form of sexual dysfunction, yet in clinical reviews of sexual disorders, epilepsy is not listed as one of the medical conditions commonly associated with impaired sexual function.

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Assessing the cost and quality-of-life impact of on-demand‐only medications for adults with hereditary angioedema

Allergy and Asthma Proceedings ◽

10.2500/aap.2021.42.200127 ◽

2021 ◽

Vol 42 (2) ◽

pp. 108-117

Author(s):

Anthony J. Castaldo ◽

Christian Jervelund ◽

Deborah Corcoran ◽

Henrik B. Boysen ◽

Sandra C. Christiansen ◽

...

Keyword(s):

Quality Of Life ◽

Hereditary Angioedema ◽

Online Survey ◽

Type I ◽

Life Questionnaire ◽

Office Visits ◽

Attack Frequency ◽

On Demand ◽

The Cost

Background: Novel subcutaneous (SC) prophylactic therapies are transforming the treatment landscape of hereditary angioedema (HAE). Although questions are being raised about their cost, little attention has been paid to the cost and quality of life (QoL) impact of using on-demand‐only medications. Objective: We assessed the overall economic burden of on-demand‐only treatment for HAE and compared patient QoL with patients who received novel SC prophylactic therapies. Methods: US Hereditary Angioedema Association members were invited to complete an anonymous online survey to profile attack frequency, treatment use, and the presence of comorbidities as well as economic and socioeconomic variables. We modeled on-demand treatment costs by using net pricing of medications in 2018, indirect patient and caregiver costs, and attack-related direct billed costs for emergency department admissions, physician office visits, and/or hospitalizations. QoL was assessed by using the Angioedema Quality of Life questionnaire. Results: A total of 1225 patients (31.4%) responded. Of these, 737 adults with HAE (type I or II) met the inclusion criteria and completed the survey. Per patient/year direct costs associated with modeled on-demand‐only treatment totaled $363,795, with additional indirect socioeconomic costs of $52,576 per patient/year. The greatest improvement in QoL was seen in patients who used novel SC prophylactic therapies, with a 59.5% (p < 0.01) improvement in median impairment scores versus on-demand‐only treatment. In addition, patients who used novel SC prophylactic therapies reported a 77% reduction in the number of attacks each year when compared with those who used on-demand‐only treatment. Conclusion: Our real-world patient data showed the cost and QoL burden of HAE treatment with on-demand‐only therapy. Use of novel SC prophylaxis can lead to sizeable reductions in attack frequency and statistically significant and clinically relevant improvements in QoL. These data could be useful to clinicians and patients as they consider therapy options for patients with HAE.

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The influence of intensity and neuropathic component of pain syndrome on the quality of life in patients with multiple sclerosis

Zaporozhye Medical Journal ◽

10.14739/2310-1210.2021.5.206017 ◽

2021 ◽

Vol 23 (5) ◽

pp. 628-635

Author(s):

T. I. Nehrych ◽

N. L. Bozhenko ◽

M. I. Bozhenko

Keyword(s):

Quality Of Life ◽

Multiple Sclerosis ◽

Pain Intensity ◽

Social Functioning ◽

Pain Syndrome ◽

Well Being ◽

Structural Element ◽

Low Intensity ◽

Average Pain

The aim of the work. To analyze the influence of intensity and neuropathic component of pain syndrome on the quality of life structure characteristics in patients with multiple sclerosis (MS). Materials and methods. 104 MS patients with different types of MS course and complaints of pain during the last month were examined in the Lviv Regional Multiple Sclerosis Center. The patients were interviewed using standardized questionnaires (Pain Detect, VAS, SF-36) followed by an analysis of the pain characteristics influence on the quality of life. Results. When assessing the influence of the main characteristics of MS course, the relationship between the physical component of quality of life and levels of disability (EDSS) and the total number of relapses was found (r = -0.60, P < 0.01; r = -0.34, P < 0.01, respectively). However, the mental component of quality of life had no significant relationship with the level of disability and the number of relapses. The average pain intensity within a month on the VAS scale was 5.0 [4.0; 7.0]. 24.0 % of patients had low-intensity pain, 54.8 % – moderate, 21.2 % – high. In MS patients with low-intensity pain within a month, 5 of the 11 quality of life indicators were significantly higher, in particular, the overall physical component of quality of life – 38.1 [33.8; 48.5] % in low-intensity pain against 31.8 [28.1; 38.7] %, P = 0.02 – in moderate. In MS patients, the level of both physical (r = -0.25; P = 0.01) and mental (r = -0.21; P = 0.03) component of quality of life decreased with increasing pain intensity. The most notable correlation was observed between intensity of pain and such characteristics of quality of life as energy/fatigue (r = -0.37; P ˂ 0.01) and emotional well-being (r = -0.28; P ˂ 0.01). In 30.8 % of patients, pain was neuropathic, in 47.1 % – nociceptive, in 22.1 % – undetermined. MS patients with the neuropathic type of pain had significantly lower scores, 7 out of 11 indicators of quality of life, largely the mental component, than scores in MS patients with nociceptive type (Р < 0.05). Correlation analysis showed the association between an increase in the manifestation of neuropathic pain component and a decrease in all quality of life characteristics, except in health change. In MS patients with a neuropathic component, in increasing level of its manifestation, the mental component of health decreased clearly (r = -0.36; P ˂ 0.01), namely its social functioning characteristic (r = -0.35; P < 0.01). Conclusions. In MS patients, increasing intensity of pain decreases both physical and mental components of quality of life with the most significant decrease in energy/fatigue and emotional well-being as parts of the mental component of quality of life. The neuropathic component of pain and the level of its manifestation are largely associated with a decrease in the mental component of quality of life as the overall indicator and social functioning as its structural element.

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Ehlers-Danlos Syndrome in a bitch – case report

Clínica Veterinária ◽

10.46958/rcv.2021.xxvi.n.155.p.26-30 ◽

2021 ◽

Vol XXVI (155) ◽

pp. 26-30

Author(s):

Naima J. dos S. Marciano ◽

Camila Sabaudo Alves ◽

Paulo Sérgio Salzo ◽

Marcelo B. Contieri

Keyword(s):

Quality Of Life ◽

Environmental Management ◽

Genetic Disorder ◽

Ehlers Danlos Syndrome ◽

History Of ◽

Histopathological Studies ◽

Index Value ◽

Danlos Syndrome ◽

Skin Samples

Ehlers-Danlos syndrome, cutaneous asthenia or dermatosparaxis, is a rare genetic disorder that causes alterations in the synthesis of collagen fibers, resulting in hyperextensibility and dermal fragility. This paper reports the case of a nine-year-old bitch, of no defined breed. The diagnosis was obtained by the history of the animal and clinical examination. The cutaneous extensibility test resulted in an index value of 23.5% extensibility, higher than the normal value for canines (14.5%). To confirm the diagnosis, skin samples were taken for histopathological studies. For this syndrome, treatment is palliative, prioritizing the quality of life of the animal and environmental management.

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Quality of life in adults with childhood-onset of Complex Regional Pain Syndrome type I

Injury ◽

10.1016/j.injury.2009.01.134 ◽

2009 ◽

Vol 40 (8) ◽

pp. 901-904 ◽

Cited By ~ 30

Author(s):

Edward C.T.H. Tan ◽

Nienke van de Sandt-Renkema ◽

Paul F.M. Krabbe ◽

Daniel C. Aronson ◽

René S.V.M. Severijnen

Keyword(s):

Quality Of Life ◽

Complex Regional Pain Syndrome ◽

Pain Syndrome ◽

Type I ◽

Syndrome Type ◽

Childhood Onset

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The International/Canadian Hereditary Angioedema Guideline

Allergy Asthma & Clinical Immunology ◽

10.1186/s13223-019-0376-8 ◽

2019 ◽

Vol 15 (1) ◽

Cited By ~ 20

Author(s):

Stephen Betschel ◽

Jacquie Badiou ◽

Karen Binkley ◽

Rozita Borici-Mazi ◽

Jacques Hébert ◽

...

Keyword(s):

Quality Of Life ◽

Hereditary Angioedema ◽

Primary Care Physicians ◽

Healthcare Providers ◽

Upper Airway ◽

Self Administration ◽

Policy Makers ◽

Individualized Care ◽

Related Quality

AbstractThis is an update to the 2014 Canadian Hereditary Angioedema Guideline with an expanded scope to include the management of hereditary angioedema (HAE) patients worldwide. It is a collaboration of Canadian and international HAE experts and patient groups led by the Canadian Hereditary Angioedema Network. The objective of this guideline is to provide evidence-based recommendations, using the GRADE system, for the management of patients with HAE. This includes the treatment of attacks, short-term prophylaxis, long-term prophylaxis, and recommendations for self-administration, individualized therapy, quality of life, and comprehensive care. New to the 2019 version of this guideline are sections covering the diagnosis and recommended therapies for acute treatment in HAE patients with normal C1-INH, as well as sections on pregnant and paediatric patients, patient associations and an HAE registry. Hereditary angioedema results in random and often unpredictable attacks of painful swelling typically affecting the extremities, bowel mucosa, genitals, face and upper airway. Attacks are associated with significant functional impairment, decreased health-related quality of life, and mortality in the case of laryngeal attacks. Caring for patients with HAE can be challenging due to the complexity of this disease. The care of patients with HAE in Canada, as in many countries, continues to be neither optimal nor uniform. It lags behind some other countries where there are more organized models for HAE management, and greater availability of additional licensed therapeutic options. It is anticipated that providing this guideline to caregivers, policy makers, patients, and advocates will not only optimize the management of HAE, but also promote the importance of individualized care. The primary target users of this guideline are healthcare providers who are managing patients with HAE. Other healthcare providers who may use this guideline are emergency and intensive care physicians, primary care physicians, gastroenterologists, dentists, otolaryngologists, paediatricians, and gynaecologists who will encounter patients with HAE and need to be aware of this condition. Hospital administrators, insurers and policy makers may also find this guideline helpful.

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