Introduction: Eosinophilic fasciitis (EF) is a rare disorder characterised by fibrosis of the fascia. The disease was first described by Shulman in 1974 who noted a condition characterised by peripheral eosinophilia and fasciitis. Since 1974, over 300 cases have been reported in the literature. Guidelines and consensus on management have not been reached. The disease is often described as a differential diagnosis for systemic sclerosis due to the hard and ‘woody’ feel of the skin. Typically EF spares the digits, is not associated with Raynaud’s phenomenon and typically lacks visceral involvement. These patients experience significant pain, stiffness and limitation of mobility due to progressive skin thickening, tendon thickening and contractures. Treatment of EF involves early recognition and initiation of steroid therapy- usually oral and occasionally pulsed steroids. The following drugs have also been used; hydroxychloroquine, methotrexate, mycophenolate mofetil, cyclosporine, azathioprine, infliximab, rituximab, cyclophosphamide and Tocilizumab. Prognosis is improved if diagnosis is reached within the first six months of presentation and there is early initiation of treatment. Despite this it can take up to six months for the skin to soften and not all patients achieve the desired affect. Contractures, pain and tendon thickening that can be significantly debilitating for patients. We present the case of a patient with EF, the process of diagnosis and the progress the patient has made. Our patient is having ongoing treatment, however, now almost four months post diagnosis, the patient still has painful skin thickening leading to uncomfortable contractures.
Case description: TH, a 59 year old gentleman, presented to his GP in July 2016 with a few weeks history of dry cough with gradual onset pain and stiffening in his legs and shoulders; paraesthesia in his lower limbs; poor grip strength, especially on the right; and, unsteadiness on his feet. There was a history of proctitis in 2015 treated with mesalazine and possible pulmonary sarcoid at age twenty. C-Reactive Protein (CRP) was 85 mg/L and Erythrocyte Sedimentation Rate (ESR) was 25 mm/h. His GP had commenced prednisolone 30mg/day after making a presumptive diagnosis of polymyalgia rheumatica . The patient took prednisolone for only five days and then discontinued the medication due to ineffectiveness. He was referred to the Rheumatology Department and seen in clinic in December 2016. The clinical features included significant skin thickening over the upper arms, forearms and thighs and lower legs with thickened tendons and mild flexion contractures of his fingers and weakness of the power grip in both hands (right more than left). Investigations revealed Haemoglobin 139 g/L, a lymphopaenia of 0.6 x109/L and normal eosinophils. CRP 102 mg/L and ESR 34 mm/h. Rheumatoid factor, ANA, ENA and anti-centromere antibody were negative. Creatinine Kinase (CK), immunoglobulins and bone profile were normal. A MRI of brain and whole spine was normal. Nerve conduction studies suggested a mild inflammatory myopathy. Following a further clinic review in February 2017, a working diagnosis of diffuse systemic sclerosis was made. Prednisolone 10mg OD and Methotrexate 15mg/week were commenced. Methotrexate dose was quickly increased to 20mg/week. After three weeks his liver function tests (LFTs) became acutely deranged (ALT 118 iu/L, AST 113 iu/L, GGT 581 iu/L) and methotrexate was discontinued. The LFTs settled spontaneously. However, the absence of certain clinical features of established systemic sclerosis such as sclerodactyly and Raynaud’s phenomenon with a normal auto-immune profile prompted an early revision of the diagnosis. A discussion took place with another colleague in a tertiary centre (AH). It was recommended that the patent have a MRI of the affected areas and a deep skin biopsy. The MRI of lower legs showed evidence of “…thickening of intramuscular fascia surrounding the gastrocnemius muscles. Some inflammatory change in the subcutaneous tissues. No muscle abnormality. These appearances although not exclusive for, but are in keeping with eosinophilic fasciitis”. After the MRI had been done but before the result was available, TH then developed a sudden episode of thrombocytopaenia with platelet count 24 x109/L. A repeat FBC a few days later showed considerable improvement without any treatment. Unfortunately, the skin biopsy did not contain sufficient deep fascia to allow for a histological diagnosis, although interstitial lymphoplasmocytic infiltrate was idetntified. Despite this, the patient’s clinical features were in keeping with EF and the diagnosis was changed (March 2017). Prednisolone was increased to 40mg od for one month and TH improved symptomatically and the CRP normalised. Mycophenolate Mofetil was commenced and the dose increased to 1g tds. The dose of steroids was reduced to 35mg od for 2 weeks and then to 30mg od for 2 weeks. TH became more symptomatic and his CRP rose to 18 mg/L. The dose of prednisolone was increased once more to 40mg od with symptomatic benefit and the CRP normalised again. The patient then noticed that he had been issued with the wrong dose of prednisolone in primary care- he had been issued with 1mg tablets instead of 5mg tablets. Therefore, when we thought he was taking 35mg od he was actually on 7mg and when ‘on’ 30mg od was only taking 6mg od. This has been raised with his GP and the community pharmacy services. The patient was referred for physiotherapy and hydrotherapy and encouraged to do stretching exercises which he does six days a week. Amitriptyline was commenced to improve sleep and night pain. The patient is motivated and walks two miles most days. He has been reviewed by the dermatologists who have recommended moisturising creams. As TH had an unexplained episode of profound thrombocytopaenia and as EF may sometimes be associated with haematological malignancies and aplastic anaemia, he was assessed by the haematologists. No further investigations were felt necessary in view of the now normal FBC. He is now four months into his diagnosis and although he feels ‘good in himself, his skin remains tight in his upper and lower limbs. He is still on prednisolone at a ‘proper’ dose of 40mg od and Mycophenolate Mofetil 1g tds. The intention is to gradually reduce the dose of prednisolone over the next few months. Shared care is with AH.
Discussion: It is reported that 59-88% of EF patients typically show a full or nearly full remission within one to six months of treatment. Prognosis for remission is more favourable if treated at an earlier stage of the disease. In addition to this, patients with a younger age of onset, truncal involvement and those with haematological involvement carry a poorer prognosis. The mainstay of treatment is immunosuppression. This case highlights that treatment does not always have the desired effect as quickly as expected. Pain from underlying skin tightening can be eased by physiotherapy, occupational therapy and moisturising creams to keep skin supple. Surgical release can be used in severe contractures. Other medications such as amitriptyline can help with sleep and night pain. There is a positive effect in ensuring patients know about their condition and have a good support system. Since his diagnosis, our patient has attended support groups with other patients with EF and has kept abreast of treatments and lectures on EF. He is also accepting of his condition and ensures he remains active and performs physiotherapy exercises. Insight from clinicians regarding further management of this patient would be useful, especially considering there is no common consensus in the management of this condition.
Key learning points: Eosinophilic fasciitis is a rare condition and can be misdiagnosed as systemic sclerosis. Hypergammaglobulinaemia and eosinophilia (peripheral blood or on deep skin biopsy) are not essential for the diagnosis of eosinophilic fasciitis. Although there is no consensus on the treatment of EF, the majority of patients receive steroids followed by further immunosuppressive therapy. Ensure steroid doses are checked in clinic as the wrong dose can occasionally be prescribed in the community. Management of skin disease and contractures requires a multidisciplinary approach between rheumatologists, physiotherapists, occupational therapists, dermatologists and surgeons. Engagement of the patient is of the utmost importance to maintain long-term flexibility and mobility