Pseudotumor is an infrequent manifestation of bleeding diathesis seen in hemophiliacs, the management of which is still controversial. To ascertain the effectiveness of the main therapies of choice, we have reviewed 1,831 patients affected by hemophilias A (1,108) and B (172), von Willebrand's disease (329), and other miscellaneous coagulopathies (222) diagnosed between 1965 and 1990 in a multicentric, retrospective study. Pseudotumor was proven in 21 patients. Replacement therapy was given in 15 cases as the first therapeutic approach, with complete success attained in only two, whereas surgery, which was carried out in 14 patients, completely resolved the process in eight (P = 0.017). Patients over 40 years of age demonstrated worse prognosis than younger patients (P = 0.02), but no other clinical parameters were shown to have influenced the patients' evolution. Surgical management was the most effective treatment for pseudotumor, although more conservative therapies cannot be overlooked in selected cases.

Intra-articular injection of Au-198 (gold synoviorthesis) has been used in the treatment of repeated haemarthroses of the elbows, knees, or ankles in 64 haemophiliacs. These patients had continued to have joint haemorrhages despite appropriate, episodic, substitutive therapy over a period of more than six months. Follow-up for an average period of 14 years in one knee in 38 male haemophiliacs showed 8 good, 23 fair, and 7 poor results with regard to their joint scores. It is concluded that Au-198 is an effective agent for radiation synovectomy, particularly in the early stages of the disease with minimal radiographic changes. It appears to reduce the incidence of haemarthrosis and to slow the rate of evolution of radiographic changes.

Septic arthritis is rare in haemophiliacs. Four new cases who were also HIV positive are reported. In three, the knee was involved, and in the fourth the elbow. The organism was streptococcus pneumoniae and staphylococcus aureus in one patient each, and salmonella in two. Although all the patients were human immunodeficiency virus (HIV) positive at the time of diagnosis, only two patients developed autoimmune deficiency syndrome (AIDS) after their septic arthritis. These two died later due to AIDS complications. Treatment was conservative in all cases with antibiotic therapy and prompt rehabilitation. The results were fair in two and good in two. Therefore nonoperative management is advocated before surgical drainage is considered. It seems likely that a positive HIV status is related to the appearance of septic arthritis in haemophiliacs.

SummaryResults are presented of a nation-wide inquiry into the management of hemophilia in Spain. It is calculated that there are 1,172 hemophilic patients in the country. A survey has been made of the therapeutic materials (prepared commercially or by hospitals) used in 1974 and their availability in the various hospitals of the Social Security Service. It is estimated that an average of 10,708 units of deficient factor were used per patient in this year. The number of patients on home therapy is 1.2% of the total. All cost of hemophilia treatment is covered by the Social Security. Comments are made on progress during the last five years.

We describe a novel point mutation due to C----G transversion at nucleotide 20518 in the exon VI of factor IX gene, resulting in the substitution of glycine (GGG) for arginine (CGG) at position 180 in the polypeptide. This point mutation was found in a patient with a haemophilia BM variant. We designated the altered factor IX produced by this new mutation as factor IXMadrid. This mutation blocks the cleavage site involved in the release of the activation peptide at Arg180-Val181. It also abolishes the Aval site (CTCGGG) in exon VI, which can be directly detected with the enzymatic DNA amplification technique (PCR) and offers the possibility of direct analysis in carrier and prenatal diagnosis in kindreds with this mutation.