Multisystem Sarcoidosis Research Articles

OA28 The use of ACE and sIL2-R in a large tertiary cohort of patients with multi-system sarcoidosis

Abstract Background/Aims Sarcoidosis is a systemic inflammatory disorder characterised by the formation of non-caseating granulomas, and can affect almost any organ, ranging from self-limiting to a chronic and progressive disease. There are no validated biomarkers that help establish diagnosis or monitor disease progression. Serum Angiotensin-Converting Enzyme (ACE) is used in clinical practice despite some studies reporting a poor reflection of disease activity. Soluble interleukin 2 receptor (sIL-2R) is being used with increasing frequency and may be a useful tool in establishing diagnosis and monitoring disease progression. Our objectives were to evaluate the use of ACE and sIL2-R in a large tertiary cohort of patients with multisystem sarcoidosis. Methods This was an observational cohort study. Patients with a confirmed diagnosis of sarcoidosis at King’s College Hospital between 2013 and 2023 were identified. Demographics, symptoms onset, clinical features, ACE, sIL2-R, high-resolution computed tomography (HRCT), Positron emission tomography-computed tomography (PET-CT), histology and immunomodulating therapy were extracted from electronic health records. Cross sectional correlations between ACE and sIL2-R was assessed by Spearman’s correlation coefficient (rs). Results Data were extracted for 196 individuals diagnosed with sarcoidosis. The mean age was 55 (SD 16) with a female and black predominance (table 1). A prior exposure risk of silica or dust was identified in 5 individuals. At diagnosis the most frequently reported organ involvement was lung (65%), eye (20%), musculoskeletal (13%) and skin (12%). Organ involvement on PET-CT was seen in 77%. 22% had interstitial lung disease (ILD) confirmed on HRCT and 3% had myocarditis on cardiac MRI. Steroids were commenced in 56%, with a mean dose of 19mg (SD 13mg). The mean duration of follow up was 7 years (IQR 2.9-14.4), 11% developed symptoms suggestive of new organ involvement, 7% had PET-CT evidence of new organ involvement, 4% had evidence of ILD progression and 14% underwent re-initiation or escalation of steroid therapy. 42% (n = 82) had results for both sIL2-R and ACE biomarkers. The median ACE was 55u/L (IQR 40-83) and sIL2-R 1781ng/L (IQR 1328-2436). 50% (41/82) had a sIL2-R >1800ng/L and 59% (48/82) had an ACE >50u/L. Interestingly, 32% (13/41) with a sIL2-R >1800 had a normal ACE and 42% (20/41) with an ACE >50 had a normal sIL2-R results. sIL2-R correlated with ACE (rs = 0.34, p = 0.0018). There was no significant difference in ACE levels in those taking ACE inhibitors (n = 9) compared to those (n = 73) not: 55u/L (IQR 41-83) versus 39u/L (IQR 30-65) p = 0.30. Conclusion sIL2-R significantly correlated with serum ACE, although the rs value is not particularly strong, suggesting other factors may be influencing the relationship. These biomarkers represent different aspects of the disease; serum ACE reflects granulomatous inflammation whilst sIL2-R implies immune system activation and T-cell involvement, which may explain our findings. Disclosure M. Hughes: None. K. Bechman: Honoraria; UCB, Viforpharma. Grants/research support; NIHR, Versus Arthritis/Pfizer. R. Roy: None. M. Omar: None. D. Mehta: None. D. Nagra: None. S. Walsh: None. S.S. Birring: None. D.M. Sado: None. P.A. Brex: None. J. Galloway: Honoraria; Abbvie, Biovitrum, Bristol Myers Squib (BMS), Celgene, Chugai, Gilead, Janssen, Lilly, Novartis, Pfizer, Roche, Sanofi, Sobi, UCB.

Granulomatous Acute Interstitial Nephritis Revealing Multisystem Sarcoidosis Associated with Thyroiditis and Cushingoid Syndrome: Report of a Case and Review of the Literature

Introduction: Sarcoidosis can present with acute renal failure (ARF) due to granulomatous interstitial nephritis (GIN). We report the case of granulomatous acute renal failure (ARF) revealing multisystemic sarcoidosis in the nephrology department of the Aristide Le Dantec hospital in Dakar. Observation: Mrs. kD aged 54 with a past history of high blood pressure for 22 years, a multi nodular euthyroid goiter, referred to the nephrology department for impaired renal function. The clinical examination revealed at entry, deterioration in the general condition with weight loss and non-selective anorexia. Clinical anemia was also noted. The clinical examination also revealed Cushingoid syndrome and dry mouth syndrome. On biology, the blood count showed bicytopenia with anemia at 10.9 g/dl and leukopenia at 2620/mm3. There was an impairment of renal function with creatinine at 139.2 mg/l and blood urea at 1.76 g/l. The renal ultrasound became normal. Cervical ultrasound showed an aspect of abscessed thyroiditis of the right lobe. Chest computed tomography (CT) showed bilateral hilar adenomegaly and a band of bilateral basal linear atelectasis. The renal biopsy showed glomeruli of subnormal structure, the interstitium is riddled with tuberculoid follicles formed of epithelioid and multinucleated histiocytes of the Langhans type. The diagnosis of granulomatous acute interstitial nephritis revealing multisystemic sarcoidosis was kept. The evolution was favorable after 1 month of treatment with corticosteroid therapy with a clear improvement in renal function. Conclusion: Renal manifestations during sarcoidosis are rare. They can be indicative of the disease as in our patient. Renal biopsy is essential in any patient presenting with impaired renal function with extra-renal signs.

OA12 Grimey granulomas of sarcoidosis

Abstract Introduction Sarcoidosis affects approximately 1% of the population. There are two situations where it came become life threatening: seizures secondary to neuro-sarcoidosis and arrhythmias due to cardiac infiltration. Currently there are limited licenced therapies for the treatment of sarcoidosis. We describe a case of cutaneous and neuro-sarcoidosis who developed subsequent multi-system sarcoidosis. Case description A previously fit and well 50-year-old presented to his local hospital with tonic clonic seizures. He worked as a mortgage broker and never smoked. There was no pro-drome and on examination it was noted he had erythema nodosum on his shins. He was investigated with a CT head and subsequent MRI demonstrating enhancement of his leptomeninges, mid brain parenchyma, hypothalamus and pituitary gland. A lumbar puncture was performed with an elevated protein level of 934g with a normal glucose and lymphocyte level. The CSF was negative for TB. A CT of his chest was performed demonstrating bilateral hilar lymphadenopathy and subsequent histology of these lymph nodes demonstrated non-necrotising, non-caseating epithelioid granulomas. A diagnosis of sarcoidosis was made and he was commenced on mycophenolate. His disease remained quiescent for 5 years before the eruption of further skin lesions. He developed multiple subdermal nodules on his fingers, wrists, elbows which were biopsied demonstrating cutaneous sarcoidosis. Neurological examination demonstrated brisk lower limb reflexes with upgoing plantars. He was commenced on a tapering course of prednisolone and an evaluation for extra-cutaneous disease was made. An IL2Ra was 4719ng/L (423-1843) with a normal ACE. Pituitary axis testing revealed a slightly raised prolactin (326 mIU/L). A CT-PET was performed demonstrating extensive metabolic activity in his skin, central nervous system, liver, spleen, salivary glands, skeletal uptake in both humeral heads alongside myocardial uptake. An urgent cardiac MRI was performed demonstrating active myocardial disease. An ECG did not demonstrate any conduction abnormalities. A diagnosis of multi-system sarcoidosis was made warranting an urgent MDT discussion given the progression of his disease. Discussion In this particular case, it had been assumed that his sarcoidosis was inactive until the emergence of the skin lesions. It was the skin lesions that lead to an assessment for multi-system sarcoidosis. It is common for the serum ACE level to be normal, as seen in up to 50% of cases and it was the Il2Ra elevation that prompted the CT-PET request. Given the extent and progression of disease despite treatment with mycophenolate, this gentlemen was given a tapering regime of prednisolone (starting at 20mg) and his mycophenolate was switched to methotrexate which has shown to have superior efficacy to mycophenolate for sarcoidosis. Furthermore, infliximab at a dose of 5mg/kg was commenced shortly after to control the increasing CNS lesions. Infliximab is a well recognised treatment for sarcoidosis; however, due to limited clinical trial data, it remains unlicenced for use in sarcoidosis with the exception of neuro-sarcoidosis (following the failure of DMARD therapy). To date, the patient remains well with no further worsening in his disease. Key learning points Sarcoidosis is a clinical entity with no one specific test. The diagnosis should be constructed using multiple parameters including radiographic findings, biochemical and histological proof. We advocate that suspected cases of sarcoidosis should have a thorough assessment and discussion in the MDT. When isolated skin disease is suspected or confirmed, baseline testing for extra-cutaneous involvement should be sent including NT-proBNP, troponin I and T, creatinine kinase, a full pituitary profile, ACE and cytokine assessment for Il2Ra, amongst other routine blood tests. An ECG is of paramount importance as arrhythmias are common cardiac features of sarcoidosis. Should there be ongoing suspicion of multiple organ involvement, a CT-PET should be performed at baseline. Isolated lymph node disease does not commonly warrant treatment; however, this cohort of patients should be closely monitored. The management of sarcoidosis in the acute setting is commonly prednisolone, but steroid sparing therapies should be considered in patients needing recurrent, prolonged courses of corticosteroids or those with evidence of critical organ involvement such as CNS, cardiac or lung disease. Life threatening disease or disease refractory to DMARD therapy should be considered for anti-TNF therapy with infliximab or adalimumab. More recently, tofacitinib has been promising as a treatment for sarcoidosis with clinical trials in Yale and Portland. Newer therapies in development include the GM-CSF inhibitor namilumab, and efzofitimod, a neuropilin 2 inhibitor.

P15 JAKi of all trades

P15 JAKi of all trades

MULTISYSTEM SARCOIDOSIS ASSOCIATED WITH THE COVID-19 MRNA VACCINE

MULTISYSTEM SARCOIDOSIS ASSOCIATED WITH THE COVID-19 MRNA VACCINE

Rossolimo–Melkersson–Rosenthal syndrome as a manifestation of lip sarcoidosis

A 38-year-old female patient complained of lip augmentation. With a preliminary diagnosis of RossolimoMelkerssonRosenthal syndrome (monosymptomatic form), chronic fissure of the lower lip, the patient was sent for examination in order to exclude tumor pathology and vascular malformation. According to the results of a comprehensive clinical and laboratory examination, it was found that lip enlargement is due to the formation of granulomas. Additional follow-up by a pulmonologist confirmed the presence of sarcoidosis of the lungs with involvement of the mediastinal lymph nodes. A comprehensive examination made it possible to verify the diagnosis of multisystem sarcoidosis in a patient with macrocheilitis. As a result of complex therapy using surgical methods and systemic glucocorticosteroids, a rapid dynamics of clinical symptoms was observed and remission was achieved. This clinical case demonstrates a combination of sarcoid lesions of the tissues of the mediastinal lymph nodes, lung parenchyma and lips. It was the presence of macrocheilitis that was the main reason for visiting a dermatovenereologist and was the reason for choosing the subsequent tactics of examination and treatment. As a result of complex therapy using surgical methods of treatment and systemic glucocorticosteroids, carried out entirely within the framework of the program of state guarantees of free medical care for citizens, a stable remission of the disease was achieved.

Sarcoidosis Illuminations on Living During COVID-19: Patient Experiences of Diagnosis, Management, and Survival Before and During the Pandemic.

Background: Inspired by intense challenges encountered by patients and clinicians, we examined the experiences of living with sarcoidosis in three of the hardest impacted English-speaking cities during the early COVID-19 pandemic: London, New Orleans, and New York. Methods: A multi-disciplinary, multi-national research team including 6 patient leaders conducted qualitative investigations with analyses rooted in grounded theory. Recruitment occurred by self-referral through patient advocacy groups. Results: A total of 28 people living with sarcoidosis participated. The majority of patients had multi-system and severe sarcoidosis. Dominant themes were consistent across groups with differences expressed in spirituality and government and health systems. Racial, gender, and able-bodied inequity were voiced regarding healthcare access and intervention, societal interactions, and COVID-19 exposure and contraction. Agreement regarding extreme disruption in care and communication created concern for disability and survival. Concerns of COVID-19 exposure triggering new sarcoidosis cases or exacerbating established sarcoidosis were expressed. Pre-COVID-19 impediments in sarcoidosis healthcare delivery, medical knowledge, and societal burdens were intensified during the pandemic. Conversely, living with sarcoidosis cultivated personal and operational preparedness for navigating the practicalities and uncertainties of the pandemic. Optimism prevailed that knowledge of sarcoidosis, respiratory, and multi-organ diseases could provide pathways for COVID-19-related therapy and support; however, remorse was expressed regarding pandemic circumstances to draw long-awaited attention to multi-organ system and respiratory conditions. Conclusion: Participants expressed concepts warranting infrastructural and scientific attention. This framework reflects pre- and intra-pandemic voiced needs in sarcoidosis and may be an agent of sensitization and strategy for other serious health conditions. A global query into sarcoidosis will be undertaken.

An uncommon presentation of a common disease

A 24 year old woman presented to our institution with a two week history of multiple discrete, painful, nodular and indurated foci of erythema on her lower limbs against a six week background history of a constellation of more nonspecific symptoms including intermittent dry cough, malaise, migrating arthralgias, subjective fevers, anorexia and weight loss. She denied B symptoms. There were no ophthalmic, neurological or cardiovascular symptoms. Examination was significant for features of mild hyper-metabolism manifest by low grade pyrexia with accompanying diaphoresis in conjunction with bilateral lower limb predominant erythema nodosum. Laboratory studies revealed a neutrophilic leucocytosis, raised acute phase reactants/ inflammatory markers, normal serum calcium, ACE, Vitamin D, renal and liver indices. Chest radiography revealed bilateral hilar adenopathy with minimal interstitial involvement. A diagnosis of Löfgren’s syndrome was suspected, an uncommon variant of multisystem sarcoidosis. Subsequent bronchoscopy with trans-bronchial tissue biopsy revealed non-caseating granulomas. The diagnosis was confirmed and treatment instituted with non-steroidal anti-inflammatory medication.

A RECIPE FOR REFRACTORY, RESISTANT, AND RECALCITRANT SYSTEMIC SARCOIDOSIS

TOPIC: Lung Pathology TYPE: Fellow Case Reports INTRODUCTION: Sarcoidosis is an immune mediated, systemic granulomatous disease which may exhibit ocular and dermatological involvement apart from pulmonary disease. While corticosteroids demonstrate excellent efficacy, refractory sarcoidosis often necessitates the use of immunosuppressant or biological agents. Infliximab binds to and inhibits TNF-a, which mediates granuloma formation, and is validated for use as therapy in immunosuppressant-refractory cases. We report a case of refractory multisystem sarcoidosis to the currently recommended regimen of Infliximab 5 mg/kg every 8 weeks to discuss alternative options and literature review of the current practice. CASE PRESENTATION: A 55-year-old female with a history of multisystem sarcoidosis was diagnosed by transbronchial biopsies revealing noncaseating granulomas. She had upper lobe predominant subpleural reticulation and traction bronchiectasis, transaminitis, macular rash, and ocular disease with posterior uveitis. Treatment was changed from methotrexate 17.5 mg weekly to Infliximab due to the poor control of her ocular and skin manifestations. While treated with Infliximab 5 mg/kg every 8 weeks, she had worsening of obstructive lung disease, new skin rash and exacerbation of ocular manifestations requiring systemic steroids. Infliximab was then increased to 7.5 mg/kg every 8 weeks. However, with persistent posterior uveitis the decision was made to increase her dose to 10 mg/kg every 8 weeks, and Methotrexate 10 mg weekly was added. DISCUSSION: We present a case of a patient with multisystem sarcoidosis with pulmonary, dermatological and uncontrolled ocular manifestations despite Infliximab therapy. Increasing dosing to 7.5 mg/kg, used in previous non-randomized studies [1], did not achieve remission of her uveitis.Clinical improvement is usually observed in 64% of patients [2] and factors associated with clinical improvement on TNF inhibitors are low baseline FVC, CRP?>?0.8?mg/dL and high TNF expression [1] while refractory response is reported in 10.6% of patients [3]. Switching to another TNF inhibitor or addition of an immunosuppressant has shown complete or partial response in 62% (10/16 patients) and 77% (7/9 patients) [3] of such patients respectively. The use of Rituximab in treatment of refractory sarcoid with favorable response has also being reported in recent case series. CONCLUSIONS: Treatment options of multisystem sarcoidosis refractory to TNF-targeted therapy are limited. Increasing the dose, adding a second line steroid sparing agent to current therapy or use of a second TNF inhibitor are strategies described in the literature. Randomized clinical trials to validate their long-term safety and efficacy in such patients would be warranted. REFERENCE #1: Adler, Brandon L., et al. "Anti-tumor necrosis factor agents in sarcoidosis: a systematic review of efficacy and safety." Seminars in arthritis and rheumatism. Vol. 48. No. 6. WB Saunders, 2019. REFERENCE #2: Jamilloux Y., et al. Efficacy and safety of tumor necrosis factor antagonists in refractory sarcoidosis: a multicenter study of 132 patients. Seminars in Arthritis Rheumatism. 2017. 47(2): 288-294. REFERENCE #3: Clemence, T.C., et al. Outcome of patients with sarcoidosis refractory to TNF antagonists: A case series. Sarcoidosis Vasculitis & Diffuse Lung Diseases. 2018. 35(4):371-375 DISCLOSURES: No relevant relationships by ALAA ABU SAYF, source=Web Response No relevant relationships by Heather Bachert, source=Web Response No relevant relationships by Muhammad Hashmi, source=Web Response Grant for research relationship with Sanofi Please note: January 2021 Added 04/20/2021 by Daniel Ouellette, source=Web Response, value=Grant/Research No relevant relationships by Krishna Thavarajah, source=Web Response, value=speaker fees for IPF rally Removed 04/30/2021 by Krishna Thavarajah, source=Web Response No relevant relationships by Krishna Thavarajah, source=Web Response, value=stockholder Removed 04/30/2021 by Krishna Thavarajah, source=Web Response

A Hemolytic Event in a Heartmate 3 Patient in the Setting of Polycythemia

Introduction The Heartmate 3 (HM3) LVAD has significantly reduced hemocompatibility events. We present a case of a hemolytic event in a HM3 patient likely related to underling polycythemia. Case Report A 49-year-old man with multisystem sarcoidosis (pulmonary and cardiac) complicated by stage D systolic heart failure status post HeartMate 3 left ventricular assist device (LVAD) implantation and secondary polycythemia attributed to chronic hypoxic respiratory disease and pulmonary hypertension presented with symptoms of left arm numbness and tingling followed by severe substernal chest pain. Initial examination was unremarkable. EKG revealed nonspecific intraventricular conduction delay. Troponin I was elevated at 6.1. Hemoglobin was elevated to 19. LDH was elevated to LDH 568 from baseline of 300s. INR was 1.6 upon arrival. LVAD interrogation revealed speed 5600 rpm, flow 4.5 L/min, power 4.4 Watts and pulsatility index of 4.8. Heparin drip, aspirin and statin were initiated for presumed NSTEMI. LDH remained elevated to 600s. Left heart catherization revealed an acute clot in mid-circumflex associated with 50% stenosis consistent with partial resolution of thrombosis. Further workup revealed normal haptoglobin, erythropoietin and total bilirubin levels however plasma free hemoglobin was elevated to 63.1. Urine hemoglobin was not detected. A JAK2 mutation was excluded. Slow therapeutic phlebotomies with replacement of 125cc of blood with equivalent normal saline were initiated given concern for hemolytic event in the setting of worsening polycythemia. Renal imaging was negative and pretest probability for hematologic malignancies remained low. Of note, the patient reported non-compliance with home oxygen therapy used only at the time of exertion. Compliance was reinforced. Subsequently, LDH trended down to baseline following successful heparin bridge to therapeutic warfarin level. The patient was discharged in stable condition. Summary An acute hemolytic event (and possible cardioembolic NSTEMI) was seen in our patient evidenced by an elevation of LDH, plasma hemoglobin and new coronary thrombus in the setting of worsening polycythemia. Despite a remarkable low rate of pump thrombosis, HM3 recipients with acquired pro-thrombotic states such as polycythemia maybe at risk for adverse hemocompatibility events. Close surveillance is warranted for these special populations.

A case of multisystem sarcoidosis on 18F-FDG PET/CT

We present in a 67-year-old woman with multisystem sarcoidosis on 18F-FDG PET/CT

EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

EP23 Symptomatic sarcoid myopathy: a rare extra-pulmonary manifestation of sarcoidosis

EP21 Tumour necrosis factor inhibitor for the treatment of refractory extra-pulmonary disease including sarcoid arthritis and myositis

EP21 Tumour necrosis factor inhibitor for the treatment of refractory extra-pulmonary disease including sarcoid arthritis and myositis

EP25 Blau syndrome: a lifetime of sarcoid

Case report - IntroductionHere we explore a case of a 31-year-old female treated with juvenile arthritis rebranded as Blau syndrome. This is characterised by sarcoid involvement principally of her eyes as well as skin, kidneys, and joints. We aim to explore her management challenges and complications.Case report - Case description31 MS of Afro-Caribbean descent was diagnosed with early onset sarcoidosis at the age of 18 months. She was later found to be NOD2 gene positive but has no significant family history. Her health has been further complicated by her diagnoses of growth hormone deficiency and hyperthyroidism secondary to multinodular goitre.Clinically MS has a short stature and profound deafness. A legacy of the ophthalmic morbidity, panuveitis, has led to a visual acuity is 6/15 in her left eye and her right reduced to counting fingers due to developing endophthalmitis in 2019. Her arthritis is stable, but there are flexion deformities primarily involving her proximal interphalangeal joints reducing her grip function. In adulthood she does not have significant cutaneous changes.Investigations have revealed her to be anti-nuclear and anti-neutrophil cytoplasmic antibody negative. Radiologically, hand films show sparing of erosive changes, radiocarpal subluxation, and deformity of carpi in keeping with bilateral Madelung deformity. MRI has never suggested synovial enhancement of sacroiliac joints.Therapeutically she has trialled conventional disease modifying therapy including azathioprine, mycophenolate, and methotrexate. Disease activity continues to be high despite anti-TNF biologic DMARDs (adalimumab, infliximab and golimumab). Use of anti-TNF therapy has been complicated by development of CMV disease and identification of anti-infliximab antibodies following interruption.Ongoing steroid use from 18 months, hyperthyroidism and a chronic inflammatory state has led to osteoporosis. DEXA Z-scores reveal lumbar -2.7, right femoral neck -3.2 and left femoral neck -4.7. Systemic corticosteroid has tried to be offset through dexamethasone intravitreal implants.Consequentially, uncontrolled disease burden has also led to significant input from orthopaedics, including bilateral total knee replacements by age 28.However, with MS, we are hopeful with the commencement of anti-IL6 receptor therapy (Tocilizumab) that this may represent a new line of effective treatment.Case report - DiscussionBlau syndrome is a juvenile sarcoidosis characterised by the triad of granulomatous arthritis, recurrent uveitis, and dermatitis. It is inherited in an autosomal dominant pattern due to a missense mutation in the gene encoding for nucleotide-binding oligomerisation domain containing protein 2 (NOD2/CARD15). It is proposed that NOD2 as intracellular receptors, for antigen such as lipopolysaccharide, may subsequently act like toll-like receptors to cascade NF-kappa B and downstream inflammatory pathways. Its role is also implicated in other inflammatory conditions such as Crohn’s disease.As represented in our case, uveitis presents the highest morbidity, with median age of eye disease presenting at 60 months and remains persistent despite topical or systemic therapy in more than 50% of patients. In comparison to Juvenile idiopathic arthritis, Blau often leads to a pan rather than anterior segment only uveitis and in a greater proportion of cases.In addition to biological factors, much of MS’s treatment decisions have been guided by her and her psychology. In attempting to address the difficulties of her condition, including coordinating several specialities clinics whilst developing as a young woman, she has frequently discontinued therapy which may represent an area that she can exact control given little perceived benefit.TNF-alpha inhibitors have been validated through randomised controlled trials for the use of refractory sarcoidosis. However recent literature has highlighted the use of targeting the IL-6 pathway in multisystem chronic sarcoidosis. It is believed this may represent a key cytokine in promoting Th17 effector cells that have been implicated in sarcoidosis bio-pathology. However ongoing case reports and ideally large-scale studies are needed.Case report - Key learning pointsBlau syndrome as a rare lifelong form of early onset sarcoidosis offers insight into challenging therapeutic decision making where limited clinical trial data is available.

1460 An Unusual Histopathology of Colonic Polyps

INTRODUCTION: Sarcoidosis is a multi-system disorder most commonly known to involve lungs, eyes, skin and joints. Colonic involvement either in isolation or as a part of systemic disease has been reported in less than 20 cases. Here, we describe a patient who presented with abdominal pain, constipation, and weight loss and was found to have colonic sarcoidosis. CASE DESCRIPTION/METHODS: A 38-year-old woman presented with chronic left lower quadrant abdominal pain, constipation, and unintentional weight loss for a few months. Her past medical history significant for treated latent tuberculosis and uterine fibroids. She denied fever, diarrhea, melena or hematochezia. Physical exam revealed tenderness in the left lower quadrant and periumbilical region. Laboratory work up showed hemoglobin of 9.6 (11.7-14.9 g/dL). Her ACE levels were elevated at 120 (8-52 U/L). Chest xray showed scattered pulmonary nodules and bilateral hilar lymphadenopathy. CT scan demonstrated extensive porta hepatis, mesenteric, portocaval, retroperitoneal, and inguinal lymphadenopathy. Biopsy of inguinal lymph node showed granulomatous lymphadenitis but no malignancy. Acid fast bacilli and fungal stains were both negative. Further, colonoscopy revealed multiple sessile polyps in descending colon ranging between 2-8 mm (Figure 1), removed with excisional biopsy. Biopsy from the colon polyps revealed numerous non-caseating granulomas (Figure 2). She was diagnosed with multi-system symptomatic sarcoidosis and was started on prednisone with improvement of her symptoms. DISCUSSION: Gastrointestinal tract involvement by sarcoidosis is seen in less than 1% of cases, with stomach being the most commonly affected organ. Colonic sarcoidosis is extremely rare and has variable clinical presentation but abdominal pain is most commonly described. Endoscopic appearance is very nonspecific and includes polyps, mass like lesions, erosions, ulcers and focal nodularity. Diagnosis requires demonstration of non necrotizing granulomas in the involved organ, evidence of sarcoidosis in at least one other organ system and exclusion of other granulomatous disorders such as tuberculosis, fungal infections, inflammatory bowel disease and malignancy. While no therapy is warranted for inactive disease, steroids are the initial treatment of choice in symptomatic patients.

Herpes zoster presenting as unilateral vasculitis

Vasculitis can be a primary disorder or a cutaneous manifestation of a viral infection. The present case describes an atypical localized cutaneous varicella-zoster virus infection inducing a small vessel vasculitis in a patient with multisystem sarcoidosis. Additionally, we discuss the differential diagnoses and treatment options. Varicella-Zoster infection occurs more frequently in immunosuppressed populations and can present with uncharacteristic clinical manifestations complicating the diagnosis as in the present case.

An Uncommon Cause of a Small Bowel Obstruction

Introduction: Sarcoidosis is a systemic granulomatous disease of unknown etiology, characterized by the formation of non-caseating granulomas. GI involvement is very rare and can occur in a patient with known sarcoidosis or as the initial manifestation of the disease. Small bowel obstruction secondary to sarcoidosis has been described in few case reports. Case Report: A 67 y/o female with previous history of inactive pulmonary sarcoidosis presented with five-day history of nausea, vomiting, abdominal pain, and constipation. Abdominal X ray and CT scan with contrast demonstrated a high grade small bowel obstruction. She was treated conservatively, but as her symptoms progressively worsened, diagnostic laparoscopy was performed and revealed skin tag appearing lesions on the antimesenteric surface of the mid jejunum causing inflammatory adhesions to the mesentery. The bowel was completely viable with no additional lesions in the liver, stomach or visible parts of the colon. Histopathology of tissue biopsy revealed lymphohistiocytic non-caseating granulomatous inflammation with multinucleated giant cells, consistent with sarcoidosis. The patient was discharged on prednisone taper dose with close follow up. Discussion: GI system involvement that is clinically recognizable occurs in 0.1-0.9% of patients with sarcoidosis, with one study revealed small intestine involvement in 0.03% of the cases. It usually occurs in patients in their fifth or sixth decade of life with evidence of multisystem sarcoidosis in approximately one-half of patients. Establishing a definitive diagnosis of GI sarcoidosis depends on three components: 1) Biopsy evidence of non-caseating granulomas in the “symptomatic organ”, 2) Exclusion of other causes of granulomatous disease, particularly mycobacterial, fungal, and parasitic infections, and 3) Clinical, radiographic, and optimally histopathologic evidence of sarcoidosis in at least one other organ system. Treatment of GI sarcoidosis depends on symptomatology. Asymptomatic patients can be monitored without active therapy, while symptomatic patients with organ involvement should be treated with steroid until a response to therapy is noted followed by gradual taper. The optimal duration of steroid treatment for GI sarcoidosis is not known, but experts recommend treating the initial manifestation for at least one year. Other treatments such as surgical intervention may be necessary in patients with bowel obstruction, perforation, or hemorrhage.Figure: Computed tomography (CT) scan of the abdomen demonstrated early complete bowel obstruction at the level of mid-jejunum (A,B). Gastrografin small bowel follow-through demonstrated failure of contrast to pass into the colon (C).Figure: Intraoperative demonstration of the skin tag appearing lesion at the level of mid jejunum causing inflammatory adhesions.Figure: Histopathology of the resected small bowel lesion (A) H&E stain revealed lymphohistiocytic non-caseating granuloma with multinucleated giant cells (black arrow). (B) Negative for acid fast bacilli (AFB) stain. (C) GMS stain negative for fungal infection.

AB0645 Sarcoid / granulomatous disease in association with helicobacter pylori

BackgroundHelicobacter Pylori (HP) has been studied in several autoimmune disorders but definite causality is perhaps restricted to MALT Lymphoma and some cases of ‘idiopathic’ immune thrombocytopenia (1,2). HP may suppress...

Alimuddin Zumla: infectious diseases guru and survivor

Two near-death experiences have made Alimuddin Zumla cherish every day of life. Zumla, now one of the world's most respected infectious and tropical diseases experts, and Professor of Infectious Diseases and International Health at University College London (UCL), often reflects on these experiences and second chances that fate has given him. The first, while working as a junior doctor in London in 1982, was a bout of crippling tuberculous meningitis. Doctors said he would never walk again, but Zumla overcame this prognosis. The second scare came in 2005; misdiagnosed as tuberculosis, the mysterious illness was eventually diagnosed as multisystem sarcoidosis from information collected by his wife Farzana from the textbook Granulomatous Disorders that Zumla himself had authored. The white plague returns to London—with a vengeanceIn 1660, John Bunyan (1628–88), an English Christian writer and preacher, described tuberculosis as “The Captain among these men of death” when tuberculosis case rates in London had reached a phenomenal 1000 per 100 000 population per year,1 far more than current rates of 340 per 100 000 in sub-Saharan African countries.2 During the 19th century, the white plague, as tuberculosis was named in Victorian Britain (due to the loss of skin colour seen in London tuberculosis patients), continued to ravage Britain, and up to 25% of deaths in Europe were caused by this disease. Full-Text PDF

Refractory multisystem sarcoidosis involving pelvic bone responding to infliximab

Background Chronic progressive multisystem granulomatous disease is seen in 10–30% of patients with sarcoidosis and can result in end organ damage [1]. Corticosteroids are the mainstay of treatment with the addition of cytotoxic agents in severe cases. Some patients are refractory to such treatment and therefore management is a challenge. There is currently limited evidence for biological agents such as infliximab, a monoclonal anti-tumor necrosis factor-a antibody in the treatment of multisystem sarcoidosis. Aim of this case report is to disseminate knowledge concerning successful treatment of multisystem sarcoidosis involving pelvis with the use of TNF-a blockers in refractory cases.