Chronic fatigue in Ehlers-Danlos syndrome-hypermobile type By Dr Xiaoqi Chen Key Points 1. Chronic fatigue is a common presentation in those with Ehlers Danlos Syndrome hypermobile type (heds). 2. Assessment of chronic fatigue in heds involves exclusion of red flags and identification of the main drivers of fatigue. 3. Management of chronic fatigue in heds is multi-faceted and involves a multi-disciplinary team. 1
BACKGROUND AND OBJECTIVE This paper was a narrative review written by a pioneering group of experts in the field of Ehlers- Danlos Syndrome - hypermobile type (heds), also known as Joint Hypermobility Syndrome and Hypermobility Spectrum Disorders. In those with heds, fatigue could be the main presenting symptom, on top of other symptoms including pain, joint instability and dysautonomia. Chronic Fatigue Syndrome or Myalgic Encephalomyelitis (CFS/ME) is characterised by fatigue that is unexplained by other conditions, not substantially alleviated by rest, not the result of ongoing exertion, and significantly impacts daily activities and quality of life for more than six months (1). Due to the general lack of awareness in the medical and research community on heds, some patients are diagnosed with CFS/ME in the absence of a heds diagnosis. Additionally, it is unknown how many patients diagnosed with CFS/ME actually have heds. Due to the controversial existing diagnostic criteria of CFS/ME that excludes heds, the authors proposed to use the term chronic fatigue in the context of this paper. Fatigue could be the main presenting symptom in those with Ehlers-Danlos Syndrome - hypermobile type. ASSESSMENT OF FATIGUE A thorough patient assessment involves: (A) the exclusion of red flags, and (B) identification of the main drivers of chronic fatigue in heds. Red flags may include the following: Fevers and infections - chronic infections associated with fatigue include hepatitis, endocarditis and Lyme disease Endocrine disorders (e.g. diabetes, thyroid disease and adrenal insufficiency) Neurological and autoimmune disorders (e.g. myasthenia gravis and multiple sclerosis) Bronzing of the skin - related to Addison s disease The ongoing provision of a positive and encouraging clinical environment can go a long way for patients with heds. Nail clubbing Unexplained weight loss Red, swollen joints Cardiorespiratory disease (e.g. Chronic Obstructive Pulmonary Disease, Cardiomegaly and Congestive Heart Failure) 2
The main drivers of chronic fatigue may include the following: Physical deconditioning Poor sleep quality due to pain, nocturnal tachycardia and sleep disordered breathing Chronic pain due to recurrent musculoskeletal injuries Dysautonomia Chronic allergies Food intolerances and nutritional deficiencies Bladder/bowel dysfunction (e.g. nocturnal polyuria) Psychological disorders (e.g. anxiety and depression) As part of the fatigue assessment, the authors recommended four main types of fatigue questionnaires that were found to be reliable in detecting change over time. These were the Fatigue Severity Scale, Fatigue Impact Scale, Brief Fatigue Inventory, and Multidimensional Assessment of Fatigue. MANAGEMENT OF FATIGUE Fatigue management should involve an ongoing shared decision-making process with the patient. Management is directed at addressing the main drivers of fatigue and involves realistic goal setting, patient education, and the involvement of a multi-disciplinary team (2). Patients are encouraged to keep a diary of their daily activities and symptoms. Useful clinical information can be gained from the diaries to obtain patients baseline activity tolerance, set goals, and monitor progress over time. Assistive equipment such as the use of a walking stick and wheelchair could help patients gain more independence. Clinicians could offer advice on activity and equipment modifications that are energy conserving and pain relieving to help patients manage work, home and study demands. Good sleep hygiene should be encouraged and includes advice on avoiding stimulants and large meals close to bedtime, associating bed with sleep (i.e. avoid watching TV and working on bed), having routine sleep and wake times, and having a pleasant and relaxing sleep environment. Exercising, especially early in the day, can help maintain a healthy sleep-wake cycle as the exposure to natural light helps encourage wakefulness. Chronic pain can play a critical role in poor sleep quality and should be managed accordingly with strategies such as pacing, exercise, and medications. As part of pacing, the clinician could encourage activity planning to allow patients to maintain a good balance between rest and activity. Mental fatigue should also be addressed by encouraging patients to spread out challenging cognitive tasks over time. Continued monitoring, adjusting and planning using an activity symptom diary can help minimize the boom and bust cycle. Rest advice is important and may include limiting the length of rest periods to a set duration per day, undertaking low-energy type activities on bad days, using relaxation or breathing 3
techniques, and trying to avoid complete rest as the only management during a flare. Relaxation techniques such as massage, meditation, yoga, music and art therapy are encouraged. CLINICAL IMPLICATIONS As physiotherapists we are trained to manage pain, but not fatigue. In general, the core principles underpinning the management of chronic fatigue and chronic pain are not dissimilar it involves empathy, patient education, pacing, exercise training, activity/symptom diaries, and a multi-disciplinary approach. In heds, fatigue and pain have to be co-managed as these often involve complex, intermingling issues. It is good practice to assess for fatigue in conjunction with pain in the subjective assessment. Fatigue questionnaires like the ones mentioned in this article can be useful tools to quantify pre- and post-treatment functional outcomes. The main priority is to identify and manage the major drivers of fatigue in these patients once red flags have been ruled out. Observationally, the most common drivers of chronic fatigue in the heds population are poor sleep, dysautonomia, pain, gastroenterological, dietary and psychological factors. Management of chronic fatigue in heds is also about being sensitive to the changing mental and physical status of the patient due to recurrent injuries, poor healing, and their evolving medical conditions. It helps to prescribe bad day and good day exercise programs for these patients. Exercises prescribed should involve aspects of cardiovascular, strength, balance, and proprioception training. Overall, an open-minded approach to chronic fatigue management is useful as patients with heds may have large fluctuations in their condition over time. The ongoing provision of a positive and encouraging clinical environment can go a long way for patients with heds. + Study reference Hakim A, De Wandele I, O Callaghan C, Pocinki A, Rowe P (2017) Chronic fatigue in Ehlers- Danlos syndrome-hypermobile type. AM J Med Genet Part C Semin Med Genet, 175C, 175-180. Dr Xiaoqi Chen SUPPORTING REFERENCES 1. Institute of Medicine, Committee on the Diagnostic Criteria for Myalgic Encephalomyelitis/Chronic Fatigue Syndrome; Board on the Health of Select Populations (2015). Beyond Myalgic Encephalomyelitis/ Chronic Fatigue Syndrome: Redefining an illness. Institute of Medicine. Washington, D.C.: The National Academies Press, February 10. 2. Castori M, Morlino S, Celletti C, Celli M, Morrone A, Colombi M, Camerota F, Grammatico P (2012). Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): Principles and proposal for a multidisciplinary approach. Am J Med Genet A 158A:2055 2070. 4
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