Hereditary angioedema: a family study.

Hereditary angioedema (HAE) is a rare, life-threatening, autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1-esterase inhibitor (C1-INH). Clinical manifestation of HAE may first develop during childhood but typically presents around puberty with nonpruritic and non-pitting edema of the subcutaneous and mucosal tissues. Up to now, there has been no published report of HAE case in Taiwan. We reported a 33 year-old female patient who had recurrent painful swelling of face and hands since 27 years of age. She first suffered from sudden onset of painful swelling of the eyelids and lips in August 1998 when she was pregnant for the first time. Subsequently, similar episodes recurred for a few times. Her blood test disclosed that her C3 and C4 were 125 mg/dl and 6 mg/dl, respectively. Her uncle died of laryngeal edema at the age of 30 years. Her father and elder brother also had the similar history of recurrent facial and hand swelling. The C4 levels of her elder brother were 6 mg/dl and 13.3 mg/dl on two separate occasions. The C1-INH antigen serum level and functional assay of the index patient and ten other family members were studied. A total of seven members of the family were confirmed to have type 1 HAE as evidenced by the low C4 and low C1-INH antigenic level and functional activity. Two of the seven cases were asymptomatic up to the date of our report.

Hypocomplementemic urticarial vasculitis and lower cranial nerve palsies.

A 55 years post menopausal lady presented with puffiness of face, and a pruritic urticarial rash over face and upper trunk of one week duration with accompanying dysphagia. Clinical examination revealed an urticarial rash over face and upper trunk, two small ulcers over floor of mouth and evidence of bilateral VIII, IX and Xth cranial nerve palsies. Hypocomplementemia, negative immune profile and evidence of vasculitis on skin biopsy suggested a diagnosis of hypocomplementemic urticarial vasculitis. The patient responded to a course of steroids.

Serum complement C4 levels during acute malarial infection and post-treatment period.

The researches are conducted in adults and children infected with the species P. falciparum and P. vivax. The results indicated that complement C4 level showed a marked fall during the course of acute malaria in both the children and adults infected with both species. A highly significant hypocomplementaemia was recorded (p < 0.01). Children infected with P. falciparum developed acute cerebral malaria, which was associated with marked hypocomplementaemia. A marked rise in C4 level was noticed on 10th day and it was found normal with reference to control, on 20th and 30th day. A considerable reduction in C4 complement was recorded in P. falciparum when compared to P. vivax.

Urticaria vasculítica: angioedema adquirido y enfermedad tiroidea autoinmune / Vasculitic urticaria: acquired angioedema and autoimmune thyroid disease

Se estudia un caso de urticaria vasculítica y deficiente adquirida del inhibidor de C1 en una paciente con historia personal y familiar de enfermedad de Graves que presenta poliquistosis ovárica. La deficiencia no es confirmada en sus familiares, es transitoria al igual que la disminución de C4 y presencia de complejos inmunes circulantes y se halla FAN + 1/250. Se cree que ambos cuadros se vinculan a la alteración inmune de la paciente, ya que la función tiroidea estaba normalizada al comenzar los brotes, y se menciona la probable acción beneficiosa de la indometacina y el antiestrógeno en la remisión clínica de ambas afecciones sin descartar la remisión espontánea