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It was difficult to get a clear diagnosis, and in the end he died.......
Written by: Ling
White camels
Middle-aged female patients have recurrent rashes for more than 2 years and intermittent fever for 2 years, and there are still recurrences after adjusting medication many times during this period, is it due to infection, autoimmune disease, or other reasons? Let's learn today's cases together!
A long and repeated process of diagnosis and treatment
2 years ago: The patient had a rash on the frontal face, cervix, chest, and limbs without obvious cause, which was a red papule protruding from the skin surface, accompanied by itching, and no fever, and the effect of anti-allergic treatment was not good for 3 days, and the rash improved after 1 and a half months of oral and external Chinese medicine treatment.
After a few months, the rash and unprovoked fever reappeared, the highest body temperature was 38 °C, more than the fever at night, the rash increased during the fever, the rash improved after the fever subsided, accompanied by sore throat, and the effect of anti-infective treatment with cephalosporins for 3 days was not good. Ft 14106 pg/mL, WBC is elevated, ESR and CRP are significantly elevated, and RF is negative, and it is considered that adult Still's disease is more likely. After the treatment of prednisone 25mg/d and leflunomide 10mg/d, the hormone dose was reduced regularly, the fever frequency was reduced compared with before, and the fever was once every 2~15 days, and the nature was the same as before.
1 and a half years ago: The patient visited the hospital again due to recurrent fever, checked the antinuclear antibody spot type 1:320, positive anti-SSA antibody, and weak positive anti-centromere antibody, considered the possibility of connective tissue disease, adjusted the treatment to prednisone 15mg qd, total tripterygium wilfordii 20mg tid, 2 months later due to menstrual irregularities, stop using triptolide total glycosides, regular oral hormone therapy, and intervals of 3~15 days for low-grade fever.
10 months ago: Adjusted the treatment regimen to tacrolimus (unknown) combined with prednisone 15 mg once a day, and gradually tapered the hormone within 1 month, but still had intermittent fever and no regularity.
8 months ago: Adjust the regimen to cyclosporine (dose adjusted from 75 mg twice a day to 100 mg twice a day according to blood levels).
7 months ago: the rash of the whole body is worse than before, the fever is 1 time at an interval of 2~3 days, the rash is related to fever, accompanied by pain in both wrists and ankle joints, no joint swelling, morning stiffness, limited activity, the frequency of fever decreases after adding methylprednisolone 4mg bid, about 1 time of low-grade fever in about half a month, joint pain and rash improve.
5 months ago: Adjusted the treatment regimen to a biologic, 300 mg per week, 5 times, then changed to 300 mg every 4 weeks, 3 times a total of 3 times, regular methylprednisolone 4 mg twice, and no more fever, rash resolution, residual pigmentation and itching.
4 days ago: The patient had fever again without obvious cause, with a maximum body temperature of 39°C, accompanied by a red rash on the neck, back and front chest, obvious fatigue, accompanied by pain in the 4th proximal interphalangeal joint of the right hand and both wrist joints, and methylprednisolone 8mg/d was added by himself, and the body temperature returned to normal after taking hormones, and the rash subsided. Admitted to hospital for further treatment.
Is autoimmunity causing disease recurrence?
The patient had recurrent fever for more than 2 years, was in good health before, had no family genetic history, and had visited the hospital many times. Physical examination: T 36°C, P 71 times/min, R 16 times/min, BP 131/74 mmHg. The neck and back are scattered with dark brown old rash, the superficial lymph nodes are not palpable and swollen, the breath sounds in both lungs are clear, and no dry and wet rales are heard. The abdomen is soft, the spleen is enlarged, there is no edema in both lower limbs, and there is no tenderness and swelling in the joints.
▌Laboratory tests:
There were no obvious abnormalities in urine and bowel routine, blood lipids, coagulation function, four preoperative items, autoimmune liver disease-related laboratory tests, blood culture, bone marrow culture, blood NGS, EB antibody, CMV antibody, EB-DNA, CMV-DNA, G test, GM test, T-spot.TB, immunoglobulin fixation electrophoresis, tumor markers, anti-ds-DNA antibody, complement, RF, anti-CCP antibody, and ANCA.
▌Imaging tests:
CT chest: micronodules in both lungs.
Ultrasound of superficial lymph nodes: multiple slightly larger lymph nodes (structurally clear) in the bilateral supraclavicular region.
PET-CT: multiple hypermetabolic lymph nodes in both necks, supraclavicular area, left internal mammary area, mediastinum, bihila, axillary, hepatic hila, retroperitoneal and bilateral iliac vascular hypermetabolism are considered to be probable, and splenomegaly with elevated metabolism and axial bone metabolism is considered, and reactive changes are considered. Recurrent fever and rash are difficult to diagnose, can bone marrow aspirate identify the cause?
The patient had fever and splenomegaly, and laboratory results showed ferritinemia, decreased NK activity, and elevated sCD25.
Bone marrow aspiration report: bone marrow hyperplasia was active, granuloline ratio increased in 71.5%, some of which showed toxic changes, occasional macrophages, no tumor cells, EBV-EBER (-).
According to the HLH-2004 diagnostic criteria, do you know what the patient is suffering from?
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[3] Imashuku S, Morimoto A, Ishii E. Virus-triggered secondary hemophagocytic lymphohistiocytosis. Acta Paediatr. 2021 Oct; 110(10):2729-2736.
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