PO:10:150 | A case of pulmonary hypertension in Whipple's disease

Alba Chiara Pozzi^1|2, Giulia Fontana^1|2, Francesca Crisafulli^1|2, Guarino Daniele³, Monica Salvi³, Massimiliano Palazzini³, Francesco Biagi^4|5, Ilaria Cavazzana^1|2, Franco Franceschini^1|2, Micol Frassi¹. | ¹Rheumatology and Clinical Immunology Unit ERN-ReCONNECT, ASST Spedali Civili, Brescia, Italy; ²Department of Clinical Experimental Sciences, University of Brescia, Brescia; ³IRCCS Azienda Ospedaliero-Universitaria di Bologna, University of Bologna, Cardiology Unit, DIMEC, Bologna; ⁴University of Pavia, Department of Internal Medicine and Therapeutics, Pavia; ⁵Istituti Clinici Scientifici Maugeri IRCCS, Gastroenterology Unit of Pavia Institute, Pavia, Italy.

Background. Whipple’s disease is a rare and multisystemic disorder caused by T. whipplei and pulmonary hypertension (PH) is a rare complication.

Case presentation. A 41-year-old Caucasian woman, with wrist arthritis and elevated inflammatory markers was diagnosed with seronegative arthritis in 2017. She was initially treated with hydroxychloroquine (ineffective), and anti- inflammatory drugs. We first evaluate her in 2022 with mild articular pain, occasional low-grade fever < 38°C, non-specific perivascular dermatitis and elevated inflammatory markers C-Reactive Protein (CRP 50 mg/L), Serum Amyloid A (SAA, 182 mg/L). Routine, immunological and infectious blood tests were negative or in normal range. PET and CT scans showed mediastinal, mesenteric, axillary and inguinal enlarged lymph nodes and a tru-cut biopsy showed non-specific micro-granulomatous inflammation. In the suspect of an autoinflammatory disease Colchicine was started with no clinical improvement and persistent elevated inflammatory markers (CRP 45 mg/L, SAA 76 mg/L). In July 2023, Anakinra was started with clinical improvement and CRP reduction but persistently elevated SAA (56 mg/L). NGS for recurrent periodic fever resulted negative. In March 2024, the patient was hospitalized for dyspnoea. HRTC showed dilation of pulmonary arteries and lymph nodes enlargement. Because echocardiography revealed elevated pulmonary pressure the patient underwent right heart catheterization (RHC) that showed mild pre-capillary PH. The patient was discharged with diuretic therapy. The patient was admitted again in April and immediately referred an Italian center for PH. RHC confirmed precapillary PH [mean PAP 34 mmHg; cardiac output 4.4 l/min; pulmonary vascular resistance 6.1 uW]. Vasoreactivity testing with nitric oxide was positive. Spirometry revealed severe reduction of DLCO (34%). Diuretic and 5 mg tid of sildenafil were started. The repeated lymph node biopsy showed granulomas suggestive for lymph node sarcoidosis. Anakinra was discontinued, prednisone and methotrexate were started. Immediately the patient developed diarrhoea, and the gastroscopy enabled Whipple's disease to be diagnosed (PAS positive macrophages at the jejunal biopsy) and antibiotic was started: ceftriaxone iv for fifteen days and then cotrimoxazole. On 25^th June 2024 , sildenafil was discontinued because RHC showed normalization of the haemodynamic profile (mPAP 19 mmHg) confirmed also on 12^th September 2024. Learning points for clinical practice Whipple’s disease must be considered as a possible cause of reversible PH.

References. Boumaza A et al. Lancet Infect Dis 2022;22: e280-e291.