Hereditary angioedema (HAE) is a rare autosomal dominant disorder resulting from the deficiency of C1 esterase inhibitor. Decreased C1 inhibitor activity leads to uncontrolled activation of multiple pathways, including the complement system, the fibrinolysis and coagulation systems, and the plasma kallikrein-kinin system. The latter mechanism is involved in major manifestations of the disease, i.e. recurrent episodes of swelling of the extremities, abdomen, face, and upper airway. Although HAE is often inherited, 20-25% of cases are from new spontaneous mutations. Inherited deficiencies of the classical complement pathway components are strongly associated with the development of Systemic Lupus Erythematosus (SLE). However, the association between HAE and SLE has been described in few series. Here we describe the case of a 22-year-old man presenting with a previous diagnosis of familial HAE(functional C1-Inh < 30% [n.v. 70-130%], C1-Inh antigen < 25% [n.v. 70-115%], C4 antigen < 25% [n.v. 60-140%]) whose mother and older brother were also affected. Moreover his mother was also diagnosed in another Center, to be affected by SLE. The patient came to our attention due to appearance of erythematous lesions on hands, on shoulders and on face. A skin biopsy was consistent with cutaneous lupus. Blood tests showed a low titre homogeneous ANA positivity, a negative anti-dsDNA, and positive ENA SS-A [79 U / ml]. Signs of systemic involvement were absent. We performed a diagnosis of oligo expressed SLE with prevalent cutaneous manifestations and treated the patient with dapsone, hydroxychloroquine, and low-dose steroids with a good clinical response.
Association between hereditary angioedema and lupus erythematosus in the mother and the son
BALDOVINO, Simone;SCIASCIA, Savino;ROCCATELLO, Dario
2012-01-01
Abstract
Hereditary angioedema (HAE) is a rare autosomal dominant disorder resulting from the deficiency of C1 esterase inhibitor. Decreased C1 inhibitor activity leads to uncontrolled activation of multiple pathways, including the complement system, the fibrinolysis and coagulation systems, and the plasma kallikrein-kinin system. The latter mechanism is involved in major manifestations of the disease, i.e. recurrent episodes of swelling of the extremities, abdomen, face, and upper airway. Although HAE is often inherited, 20-25% of cases are from new spontaneous mutations. Inherited deficiencies of the classical complement pathway components are strongly associated with the development of Systemic Lupus Erythematosus (SLE). However, the association between HAE and SLE has been described in few series. Here we describe the case of a 22-year-old man presenting with a previous diagnosis of familial HAE(functional C1-Inh < 30% [n.v. 70-130%], C1-Inh antigen < 25% [n.v. 70-115%], C4 antigen < 25% [n.v. 60-140%]) whose mother and older brother were also affected. Moreover his mother was also diagnosed in another Center, to be affected by SLE. The patient came to our attention due to appearance of erythematous lesions on hands, on shoulders and on face. A skin biopsy was consistent with cutaneous lupus. Blood tests showed a low titre homogeneous ANA positivity, a negative anti-dsDNA, and positive ENA SS-A [79 U / ml]. Signs of systemic involvement were absent. We performed a diagnosis of oligo expressed SLE with prevalent cutaneous manifestations and treated the patient with dapsone, hydroxychloroquine, and low-dose steroids with a good clinical response.
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