spontaneous regression of acquired C1 esterase inhibitor deficiency associated with splenic marginal zone lymphoma presenting with recurrent angio-oedema

Abstract

A 52 year old woman with marginal zone lymphoma developed recurrent episodes of angio-oedema and was found to have C1 esterase inhibitor deficiency. She declined chemotherapy for the lymphoma. Fourteen months after her initial presentation she was found to be in partial remission, and this was confirmed by peripheral blood film and bone marrow examinations. This was associated with normalisation of C1 esterase inhibitor, C1q, and C4 values. Regression of acquired C1 esterase inhibitor deficiency associated with spontaneous partial remission of lymphoma has not been reported previously.

Case Details

Disease Location

Splenic marginal zone lymphoma lips and tongue (angio-edema)

Personal Characteristics

52 -year-old female no history of urighticaria, angio-edema, allergy, and she did not suffer from allergic rhinitis, hay fever, or bronchial asthma no family history of urighticaria or angio-edema

Clinical Characteristics

Was reffered for the investigation of lymphocytosis, she was asymptomatic and denied fever, night sweats, or weight loss. Physical exam revealed no abnormality and no palpable lymphadenopathy or hepatosplenomegaly hemoglobin was 130g/l, wbc count was 27x10^9/l (neutrophils 5.6x10^9/l, lymphocytes 15.4x10^9/l), platelet count 278x10^9/l peripheral blood film showed atypical lymphoid cells with irregular cytoplasmic outline, suggesting splenic marginal zone lymphoma serum urea, creatinine, electrolytes, and liver function tests were normal, chest x-ray was normal, CT of chest, abdomen, and pelvis were normal with no evidence of hepatosplenomegaly or lymphadenopathy, ebv and cytomegalovirus tests were negative bone marrow aspiration revealed 46% atypical lymphocytes, similar to those in the peripheral blood normal hemopoiesis was well-preserved a trephine biopsy showed a diffuse infiltration of small lymphocytes which showed positive staining with anti-CD20 immunophenotyping on the peripheral blood lymphocytes showed positive staining for CD19, 20, 79a, IGM, and lambda light chains. The cells were negative for CD5, 11c, 23, and 103. There was a week positive staining for CD25. These findings were consistent with splenic marginal zone lymphoma no paraprotein was demonstrated in the serum or urine by immunofixation tests for antinuclear antibody, rheumatoid arthritis latex, and antineutrophil cytoplasmic antibody were negative as were tests for IGG and IGM anticardiolipin antibodies wait-and-see was adopted. 8 months later she was admitted with an episode of swelling of the lips and tongue associated with stridor and urticarial skin rash. She had a total of 3 episodes of angioedema affecting the lips and the tongue over a period of 2-3 months. 1 episode resolved on its own, 2 of the three were treated with IV hydrocortisone, chlorphenamine, and im epinephrine she was discharged with epi-pens acquired deficiency of c1 esterase inhibitor was considered and investigated. Investigation revealed low c4 (0.04g/l), and normal c3 values, the c1 esterase inhibitor concentration was low (0.13g;l) and the c1q value was reduced at 47%, consistent with acquired c1 esterase inhibitor deficiency complement assays were done using rate nephelometry on a beckmann array system, repeat serum electrophoresis and an autoantibody screen were normal repeat CT of abdomen and thorax showed no evidence of lymphadenopathy but some increase splenic size compared with scan 8 months prior diagnosis of acquired c1 esterase inhibitor deficiency secondary to marginal zone lymphoma chemo was declined and patient was followed-up regularly

Remission Characteristics

One episode of angio-edema resolved on its own after the treatment for angio-edema, each episode resolved within 24 hours during the 14 months follow up, she had no recurrence of angio-edema and remained aympatientomatic over the same period, her full blood count showed a gradual reduction in the white cell count (6.5x10^9/l) consistent with sr bone marrow aspirate and trephine biopsy 14 months after presentation showed a >50% reduction in atypical lymphocytes, consistent with partial remission of lymphoma repeat assays of c1q, c4, and c1 esterase inhibiter were initially low but subsequently returned to normal, consistent with regression of the acquired deficiency

Treatment & Mechanisms

Proposed Remission Mechanisms

No major mechanisms proposed

Clinical Treatment

IV hydrocortisone, chlorphenamine, and im epinephrine

Non-Clinical Treatment

None reported