POS0795 ULTRASOUND-GUIDED CORE NEEDLE BIOPSY: AN EFFECTIVE AND SAFE TOOL TO DIAGNOSE SJÖGREN`S SYNDROME AND LYMPHOMA OF THE MAJOR SALIVARY GLANDS

Background:Histopathology is a cornerstone of diagnostics in Sjögren`s syndrome (SjS). The current widely accepted standard, minor salivary gland (lip) biopsy, is a surgical procedure with several disadvantages including permanent sensory loss of the lips as a well-known complication (reviewed in 1). Moreover, lymphoma of salivary glands cannot be excluded. Ultrasound-guided core needle biopsy (CNB) is an excellent diagnostic tool with good safety (2) and encouraging results as compared to open biopsy (3).Objectives:To retrospectively analyze safety and diagnostic outcome of ultrasound-guided CNB in patients with known or suspected SjS.Methods:A retrospective analysis of a case series of four patients with known or suspected SjS. All patients were treated at the outpatient clinic of the Department of Rheumatology & Immunology, and the Department of Otorhinolaryngology. All patients underwent ultrasound-guided CNB: We clean and disinfect the ultrasound transducer and the skin of the patient before and after the procedure. We use a sterile probe cover and gloves. Only sterile ultrasound gel or ultrasound compatible disinfectant should be used. Core-needle biopsy was performed using a 20 g needle (Bard). A Logiq S8 GE ultrasound device with a 6-15 MHz matrix linear transducer was used. We performed a local anesthesia at the entry point and a 2mm skin incision. The sampling length was set on 20mm. The CNB was performed at the most suspicious focal sonographic lesion. 2-3 needle passes were carried out through the same skin access.Results:Representative histopathological samples were obtained from all patients. In patient 1 (62y) with known SjS and parotid swelling, mucosa-associated lymphoid tissue (MALT) lymphoma was diagnosed (previous lip biopsy with no proof of malignancy). Also in patient 2 (35y) with known SjS and a 20-years history of parotid swelling, MALT lymphoma was diagnosed. In this patient a lip biopsy was performed in the previous year supporting the diagnosis of SjS, but without proof of malignancy. In patient 3 (64y) with SSc, anti-Ro/SSA positivity and dry eyes and mouth, the biopsy established the diagnosis of SjS. In patient 4 (59y) with SSc, negative anti-Ro/SSA antibodies and dry eyes/mouths, SjS could be excluded. In the corresponding ultrasound, all patients showed hypoechogenic lesions and inhomogeneous parenchyma of major salivary glands reflecting OMERACT grade II-III SjS ultrasound score (4). No safety signals were observed. Patients with prior lip biopsies perceived ultrasound-guided CNB as preferable.Conclusion:This pilot study suggests that ultrasound-guided CNB in SjS is a safe procedure with an excellent diagnostic yield allowing the diagnosis of lymphoma of the salivary glands, which is superior to lip biopsy. Given these encouraging results, we will now increase patient numbers for further validation.References:[1]Pijpe, J., et al., Parotid gland biopsy compared with labial biopsy in the diagnosis of patients with primary Sjogren’s syndrome. Rheumatology (Oxford), 2007. 46(2): p. 335-41.[2]Kim, H.J. et al., Ultrasound-guided core needle biopsy in salivary glands: A meta-analysis. Laryngoscope, 2018. 128(1): p. 118-125.[3]Zabotti, A. et al., Ultrasound-guided core needle biopsy compared with open biopsy: a new diagnostic approach to salivary gland enlargement in Sjögren’s syndrome? Rheumatology (Oxford). 2020.17:keaa441. Epub ahead of print.[4]Jousse-Joulin, S., et al., Video clip assessment of a salivary gland ultrasound scoring system in Sjogren’s syndrome using consensual definitions: an OMERACT ultrasound working group reliability exercise. Ann Rheum Dis, 2019. 78(7): p. 967-973.Disclosure of Interests:Urs Borner: None declared, Lluis Nisa Hernandez: None declared, Adela-Cristina Sarbu: None declared, Lisa Christ Shareholder of: Roche, Grant/research support from: Gilead, Roche, Pfizer, Yara Banz: None declared, Britta Maurer Speakers bureau: Boehringer-Ingelheim, Grant/research support from: Abbvie, Protagen, Novartis Biomedical Research and congress support from Pfizer, Roche, Actelion, mepha, and MSD. BM has a patent for mir-29 for the treatment of systemic sclerosis issued (US8247389, EP233143)., Marco D. Caversaccio Grant/research support from: Medel, Cochlear, Oticon, Storz, Florian Kollert Shareholder of: Roche, Consultant of: Actelion, BMS, Boehringer-Ingelheim, Pfizer, Grant/research support from: Gilead, Pfizer, Employee of: In the past at Novartis, currently at Roche

Application of Lip Biopsy for the Histological Diagnosis of Immunoglobulin G4-Related Disease

We describe the case of a 51-year-old woman with immunoglobulin G4-related disease (IgG4-RD) diagnosed using lip biopsy. She reported having bilateral submandibular nodules for a month. Magnetic resonance imaging showed diffuse swelling in the bilateral submandibular glands (SMGs), suggesting inflammatory changes. Laboratory data revealed an elevated level of serum IgG4. Fine needle aspiration cytology of the SMG showed a considerable number of lymphocytes with degeneration but did not demonstrate specific findings for a definitive diagnosis of IgG4-RD. Lip biopsy was performed, and a biopsy specimen from the labial salivary gland showed abundant lymphoplasmacytic infiltration with a large number of IgG4-positive cells. The patient was diagnosed with IgG4-RD based on histological and laboratory findings. Findings of further examinations revealed that the patient had autoimmune pancreatitis, confirming our diagnosis. Four months after prednisolone administration, improvement of the submandibular and pancreatic lesions was observed. One year after the initial presentation, the serum IgG4 level was normalized. In cases of IgG4-RD with salivary gland involvement, lip biopsy might be one of the options for the histological diagnosis of IgG4-RD.

O10 A case of sarcoidosis mimicking Sjögren’s syndrome along with abnormal nailfold capillaroscopy

Case report - Introduction Sicca symptoms and Raynaud’s disease are amongst the common presentation of Sjögren’s syndrome (SS) which has an estimated prevalence of 1%. We are reporting a case that was initially considered as SS, but subsequent lip biopsy confirmed histological evidence of sarcoidosis in the presence of abnormal nailfold capillaroscopy and negative autoimmune profile. Sarcoidosis can be associated with various autoimmune diseases including systemic sclerosis, Hashimoto's thyroiditis, systemic lupus erythematosus, rheumatoid arthritis, Sjögren’s syndrome and spondyloarthropathy. Case report - Case description A 29-year-old Caucasian man was referred to rheumatology clinic, suffering with ongoing sicca symptoms including dry itchy gritty eyes, sore red eyelids, persistent mouth dryness and cracking ulcers. He has history of Raynaud’s disease, dysphagia for solid, dry cough and photosensitive rash on his chest and arms. His other symptoms were polyarthralgia, myalgia, headache, persistent fatigue, poor memory, dry skin over the hands and tingling sensation at the feet. There was no history of joint swelling, uveitis, chest pain or shortness of breath. He has hypothyroidism secondary to radioiodine treatment and is currently on levothyroxine. He works in a factory, drinks alcohol occasionally and is non-smoker. There was no family history of autoimmune conditions. General and systemic examination was unremarkable, and there were no stigmata of connective tissue disease except for tenderness and crepitus at the right knee joint. His saliva flow rate was 0.4ml/5 mins and Schirmer’s test was 20mm/5 mins (both were normal values). Autoimmune profile was negative; ANA: 0.2 units, RF factor: <10, CCP antibodies (IgG): 1.1U/mL. Apart from mild lymphopenia, the other laboratory tests were at normal range including CK, CRP, adjusted calcium, ACE, immunoglobulins, serum protein electrophoresis and urine test for protein. Chest X-ray and lung function test were both normal. Nailfold capillaroscopy shows grade1 enlarged capillaries, prominent capillary ramifications in the form of bushy capillaries and some microhaemorrhages, a pattern suggestive of mixed connective tissue disease. Lip biopsy showed small non-caseating epithelioid granuloma within the parenchyma. The initial working diagnosis was a possible serology-negative SS, but the later results of lip biopsy confirmed sarcoidosis. He was commenced on Hydroxychloroquine and advised about cognitive-behavioural therapy for generalised ache and fatigue. As he was not responding to pilocarpine, a referral for ophthalmology review was requested. Case report - Discussion Sarcoidosis is a multisystem disease of unknown aetiology, known to exist worldwide with a variable prevalence of around 20 per 100,000 in the UK. It is characterized by the presence of multiple non-caseating granulomas, inflammation which may occur in any tissue in the body manifested as local symptoms with or without systemic features. Involvement of the salivary and lacrimal glands can result in xerostomia and xerophthalmia, respectively. Chronic sarcoid has an often subtle, insidious, progressive, and highly variable clinical course; it can be asymptomatic in a significant percentage of the cases. In addition to the clinical and radiological findings, the diagnosis of sarcoidosis should be based on the histological proof of non-caseating granulomas and ruling out other diseases that shares similar features. SS has many features in common with sarcoidosis; these may include sicca symptoms, arthralgia, myalgia, arthritis, erythematous rash, lymphadenopathy, peripheral neuropathy, fatigue and raised inflammatory markers. Moreover, positive rheumatoid factor, defective T suppressor cell regulation and HLA-DR3 are linked to both diseases. Pulmonary involvement in either of them may have similar clinical and radiographic manifestations, making it difficult for the clinician to distinguish between these diseases. In terms of management, hydroxychloroquine may help the skin and joint manifestations in both diseases whereas more severe diseases may require treatment with glucocorticoids, methotrexate, and azathioprine. Nevertheless, prompt confirmation of the diagnosis is crucial provided the difference in response to medication, complications, outcome, and prognosis. Based on the clinical and lip biopsy findings, the above case was diagnosed with sarcoidosis. The case did not meet the criteria for the diagnosis of SS provided the negative results of Schirmer’s test, saliva flow test and autoimmune profile. Case report - Key learning points Raynaud’s phenomenon (secondary Raynaud’s) with positive capillaroscopy findings was an unusual early presenting feature of sarcoidosis in the above case. There was one case report of similar presentation published in 2011. However, literature did not reveal specific information about abnormal nailfold capillaroscopy results in sarcoidosis. Dry eyes and dry mouth may occur in sarcoidosis mimicking the presentation of primary SS. In addition, true coexistence of sarcoidosis and SS has also been defined based on the histopathologic examination of the exocrine glands. Diagnostic criteria need to be applied for patients with suspected overlap of the two diseases. Clinicians will need to be vigilant and perform appropriate investigations for overlapping rheumatic conditions with sarcoidosis. Lip biopsy remains a crucial investigation for cases referred with sicca features, not only to establish the diagnosis of SS but also to exclude associated lymphoma or sarcoidosis.

Melkersson-Rosenthal syndrome with coeliac and allergic diseases

A 45-year-old man presented with a 10-year history of relapsing oedema of the lips. Moreover, he exhibited recurrent facial nerve palsy since the age of 10 years, coeliac disease since the age of 12 years, atopic eczema, allergic rhinitis and asthma. Physical examination revealed lip swelling and lingua plicata. Thus, he presented the classic triad of Melkersson-Rosenthal syndrome which includes recurrent orofacial oedema, facial nerve palsy and fissured tongue. A lip biopsy confirmed our clinical diagnosis.This case is particularly rare, as the classic triad is seen only in a minority of the cases. Moreover, allergic and coeliac diseases were observed concomitantly. This paper illustrates a potential pathophysiological interconnection between these pathologies in which interferon gamma could play a key role. To our knowledge, this is the first case report in which Melkersson-Rosenthal syndrome has been observed concurrently with coeliac disease.

Fordyce's Disease Treated with Pimacrolimus: A Rare Case Report

Fordyce's disease, a rarely found disease of lips has been reported recently in department of Skin and VD, Gonosashthaya Somaj Vittic Medical College Hospital, Savar, Dhaka. Occasionally it may not be possible to identify the cause. The patient presented with identical features of Fordyce's disease and lip biopsy for histopathology showed the features of Fordyce's disease. Then patient was treated with Pimecrolimus cream and improved. Fordyce's disease is an extremely rare disorder. So its cutaneous findings, histopathology and treatments are highlighted here.Anwer Khan Modern Medical College Journal Vol. 9, No. 2: Jul 2018, P 148-151

Correlation and Accuracy of Labial Minor Salivary Gland Biopsy in the Establishment of Diagnosis in Patients with Suspected Sjögren’s Syndrome

Purpose. The goal of this paper is to find out the correlation, and evaluate the accuracy of labial minor salivary gland biopsy as a diagnostic tool in the multidisciplinary management of patients with Sjögren’s syndrome. Patients and Methods. Thirty seven patients referred to our outpatient office between January 2016 and December 2017 from a rheumatologist for biopsy examination, as part of the complex diagnostic plan for suspected Sjögren syndrome were included in the current study. Each specimen was examined histomorphometrically by the pathologist to calculate the focus score describing the degree of salivary gland inflammatory infiltration. Results. From the total number of patients, 25 presented with an established Sjögren syndrome diagnosis by fulfilling the revised American-European criteria. From those 15 had a positive lip biopsy. The rest 10 patients from the total group who were diagnosed with Sjögren syndrome based on the same criteria had a negative lip biopsy. Conclusion. The labial minor salivary gland biopsy is a valuable diagnostic tool to establish the diagnosis of Sjögren syndrome. However, a positive biopsy result must always be correlated with all the other diagnostic criteria to prove the exact diagnosis.

Primary Systemic Al Amyloidosis Presenting as Temporal Arteritis

Temporal arteritis is most common vasculitis in elderly and imitated by miscellaneous disorders. Temporal artery biopsy is the gold standard test in the diagnosis of giant cell arteritis (GCA). Hereby, we describe a case of a 67-year-old man who presented initially with temporal arteritis; however, a lip biopsy then revealed AL amyloidosis. In this respect, temporal artery biopsy should be performed for definitive diagnosis of GCA particularly patients with systemic symptoms and treatment resistant.