A team from the Division of Hematology, Rheumatology and Respiratory Medicine at Kagawa University in Japan presented the case of a 31-year-old female patient diagnosed with type 1 hereditary angioedema (HAE) and systemic lupus erythematosus (SLE) who developed multiple symptoms. The case report was recently published in Allergy, Asthma & Clinical Immunology.

Though SLE is one of the most common autoimmune diseases in patients with type 1 HAE, the interplay between the 2 conditions is not completely understood.

“Registries for patients with HAE are needed to more accurately identify the frequency of SLE in this population, to better characterize the clinical characteristics of SLE in this population, and to determine whether HAE disease activity and management could play a role in SLE presentation,” the authors of the case study wrote.

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The patient was diagnosed with type 1 HAE in her 20s. She had a family history of HAE (mother and grandmother), and her blood tests revealed quantitative deficiencies in C4 and C1 esterase inhibitor (C1-INH). The patient complained of recurrent episodes of skin and gastrointestinal angioedema and an episode of laryngeal edema, which were managed using plasma-derived C1-INH. She refused prophylactic treatment.

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Ten years later, she started to develop malar rash, alopecia, and arthralgia in her hands and elbows in addition to skin and gastrointestinal angioedema episodes. Blood tests suggested that the arthritis was associated with Sjögren’s syndrome, and the patient was prescribed prednisolone.

Eight months later, the patient presented with general malaise. She had fever, oral ulcers, and a discoid rash on the anterior chest. She was admitted to the hospital and antibiotics were initiated, but her condition did not improve.

Biochemical analysis showed proteinuria and occult blood in the urine; increased levels of C-reactive protein, aspartate transaminase, alanine transaminase, lactate dehydrogenase, and ferritin; decreased levels of complement C4 and complement total CH50; leukopenia; and thrombocytopenia. Moreover, she had positive results for antiribonucleoprotein, anti-Sjögren’s-syndrome-related antigen A, and antinuclear antibodies (ANA).

Further examination revealed hemophagocytosis by macrophages, splenomegaly, lupus-associated retinopathy, and nephritis.

“Based on the findings of positive ANA, fever, nonscarring alopecia, oral ulcers, malar rash, discoid rash, arthralgia, leukopenia, thrombocytopenia, hypocomplementemia, lupus retinopathy, and nephritis, she was diagnosed with SLE according to the 2019 European League Against Rheumatism/American College of Rheumatology classification criteria,” the authors wrote.

The patient was treated with a combination of prednisolone, hydroxychloroquine, and tacrolimus. Her condition improved, and she was still in remission of SLE 7 months later.


Ushio Y, Wakiya R, Kameda T, et al. Systemic lupus erythematosus with various clinical manifestations in a patient with hereditary angioedema: a case report. Allergy Asthma Clin Immunol. 2022;18(1):84. doi:10.1186/s13223-022-00725-8