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A case of hereditary angioneurotic edema associated with systemic lupus erythematosus
Insights
Hereditary angioneurotic edema (HANE) is linked to C1 inhibitor deficiency, which can trigger systemic lupus erythematosus (SLE)-like symptoms. Treatment with methylprednisolone improved C1 inhibitor levels and clinical outcomes in a patient with HANE and SLE.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Hereditary angioneurotic edema (HANE) is a rare genetic disorder characterized by recurrent episodes of severe swelling.
- C1 inhibitor (C1 INH) deficiency is the primary cause of HANE, leading to dysregulation of the complement system.
- Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with diverse clinical manifestations.
Observation:
- A family presented with a pedigree of C1 inhibitor deficiency, with some members exhibiting idiopathic edema characteristic of HANE.
- The proband, initially diagnosed with HANE, later developed serological and hematological indices consistent with definite SLE, including positive LE cell, elevated DNA antibodies, antinuclear factor (ANF), and nephropathy.
- Despite the absence of idiopathic edema, the proband had low C1 INH levels and lack of complement hemolytic activity (CH50).
Findings:
- The proband's clinical course suggests SLE developed secondary to a hereditary deficiency in a complement component (C1 INH).
- Elevated levels of anti-virus antibodies were observed, consistent with the hypothesis that complement deficiencies predispose individuals to viral infections, potentially triggering SLE-like disease.
- Treatment with methylprednisolone normalized C1 INH levels and ameliorated the proband's clinical symptoms.
Implications:
- This case highlights a potential link between C1 inhibitor deficiency and the development of SLE, suggesting complement deficiencies can unmask or trigger autoimmune conditions.
- The findings support the hypothesis that recurrent infections, facilitated by complement deficiencies, may play a role in the pathogenesis of SLE-like diseases.
- Methylprednisolone therapy shows promise in managing both HANE and associated SLE-like manifestations by restoring C1 INH levels.
Abstract:
A pedigree of C1 inhibitor (C1 INH) deficiency associated with positive LE cell and an elevated titer of DNA antibodies and antinuclear factor (ANF) and nephropathy was presented. The proband of this family was diagnosed as having definite systemic lupus erythematosus (SLE) after a clinical course of several year since her first visit to our hospital and because of the lack of hemolytic activity of complement (CH50), in spite of the absence of idiopathic edema, C1 INH levels were 1.2 mg/dl (3.8% NHS) determined as antigen and 65 site forming unit (SFU) (5.8% NHS) determined by hemolytic assay in her blood. Her mother and brother had characteristic idiopathic edema of her face, larynx, hand and bowel and they had low levels of C1 INH of 1.8 mg/dl (5.8% NHS) and 4.8 mg/dl (15.5% NHS) respectively in their blood. On the basis of these findings, this family was diagnosed as having a pedigree of hereditary angioneurotic edema (HANE) which is supposedly an inherited autosomal positive trait. Actually, however, the proband's serological and hematological indices became positive and progressed year by year, which implies that SLE was absent for the first several years. It might be said that this interesting clinical course indicates that SLE appeared chronologically as a hereditary deficiency in one of the complement components in this case. In concurrence with the general observation that recurrent viral infections due to the deficiency of complement components are presumed to be responsible for SLE-like disease. Her levels of several kinds of anti-virus antibodies were high. Methylprednisolone helped normalize her level of C1 INH and ameliorate the clinical course.