A 37-year-old Bangladeshi woman with Cushingoid face presented with complaints of inflammatory low back and several large and small joint pain and swelling that affected symmetrically the upper extremities involving both the wrists and bilateral 2nd and 3rd metacarpophalangeal (MCP) joint and asymmetrically in the lower limbs involving the right knee and both ankle joints with significant morning stiffness longer than one hour for the last four years. Pain aggravated during inactivity and rest and partially relieved with activity and steroidal and nonsteroidal anti-inflammatory drugs (NSAIDs) such as indomethacin and naproxen. Moreover, she complained of headaches, shortness of breath (exertional and lying bed), malaise, and anorexia; however, the patient had no leg swelling. There was a history of repeated spontaneous miscarriage at the first trimester of pregnancy, itching, and foreign-body sensation in the eyes and alopecia, though the history of photosensitivity, rash, reddening of the eye, oral ulcer, tingling and numbness of both the upper and lower limbs, and loss of weight or contact with a TB patient was insignificant. She had a positive family history of RA and AS in her 1st-degree relatives. AS and RA was diagnosed: AS in an elder brother and nephew and RA in a younger sister. Painless mouth ulcer involved the tongue, soft palate, and gum.
She was anemic (hemoglobin 8.7 gram/dl, range 13.5-16.00), and she had a puffy face. She neither had cough, palpitation, vomiting of blood, or chest pain. Her bowel and bladder habits were also normal. Her vital signs were stable, though her breathing pattern was reversed (abdominothoracic). Besides, grade II tenderness elicited over sacroiliac joints. Modified Schober's test and chest expansion and occiput-wall distance were recorded as 4, 2, and 1 cm, respectively. However, the Owen Thomas test was negative. She neither had a rounded shoulder, protruded abdomen, flat chest, or stooping forward posture while standing or walking, typical AS phenotype. Examination of higher psychic function and cranial nerves unveiled no abnormality.
Biochemical investigations unveiled low hemoglobin, microcytic hypochromic anemia, low hematocrit (30%), thrombocytopenia, leucopenia, and raised ESR (40 mm in 1st hour, range 0-10), raised CRP (24 mg/dl, reference value >3), and mild proteinuria were seen. Schirmer's test was positive. She was positive for RA (test value 41.4 U/ml, reference value <16), anti-CCP (test value 42.5 U/ml, reference value-<5 U/ml), ANA (performed in indirect immunofluorescence on Hep-2 cell and titer was 1 : 320), anti-Sm antibody, anti-SSA, anti-SSB, antiphospholipid IgG/IgM (anticardiolipin and anti-b2glycoprotein1), and HLA B27, but prothrombin time (PT), partial thromboplastin time (PTT), and dilute Russell viper venom test (DRVVT) were normal. She was negative for anti-dsDNA, anti- RNP, anti-Jo-1 (antibody is directed against the histidyl-tRNA synthetase), anti- Scl70 (antitopoisomerase antibody type of ANA), antineutrophil cytoplasmic antibodies (p-ANCA and c-ANCA), and Coomb's test (used to detect antibodies that act against the surface of red blood cells). Screening for quantiferon TB gold, ICT for malaria, and ICT for filarial was uneventful. Her serum thyroid status and complements (C3 and C4) levels were within normal values; however, she had elevated serum basal cortisol level (1203 nmol/L (reference range 140-690 nmol/L), and IgE was 175.4 IU/ml (cut off value <100)).
Radioimaging included X-ray sacroiliac joint that revealed grade II bilateral sacroiliitis (grade III right side, grade II left side) (Figure 1(a)). MRI also confirmed bilateral sacroiliitis (Figures 1(b) and 1(c)). CXR showed cardiomegaly; echocardiography unveiled atrial regurgitation and ascending aorta aneurysm, with an ejection fraction of 62%. CT angiogram of the heart and great vessels further explored a large aneurysm with thrombus at the aortic root (Figure 2). High-resolution computed tomography (HRCT) depicted scattered fibrosis at the inferior segment of the left upper lobe favoring interstitial lung disease (ILD).
RA (ACR 2010 score was 8), AS (according to modified New York criteria), SLE (according to ACR and SLICC criteria), SS (according to 2002 American-European criteria, score 4/6, including serology for anti-SSA/SSB), and APS (based on clinical and immunology profile) were the ultimate diagnosis. Her disease activity score (DAS28), ASDAS, SLE disease activity index (SLEDAI), and Systemic Lupus International Collaborating Clinics/American College of Rheumatology (SLICC/ACR) scores was 3.46, 2.36, 23, and 5, respectively. A multidisciplinary approach was made to treat the patient. The patient is under hydroxychloroquine 200 mg daily, prednisolone 20 mg in the morning, and naproxen 500 mg twice daily with omeprazole and calcium supplementation. Pulsed cyclophosphamide (CYC) was given. Unfortunately, we lost the patient due to a massive hemorrhagic stroke from ruptured aneurysm after two weeks of the 1st dose of CYC; at that time, she developed thrombocytopenia (130 thousand/mm3 (reference value 150-450)).