Hereditary C1q deficiency and systemic lupus erythematosus

We describe a 27-year-old woman with systemic lupus erythematosus,C1q deficiency and cytomega-lovirus retinitis. She sufferedfrom severe SLE, with cutaneous and CNS involvement, and diedof CNS disease aged 28. Review of 29 other published cases ofC1q deficiency shows that SLE in these patients is often severe(five with CNS disease, ten with glomerulonephritis). The resultsof autoantibody studies in this and another patient with C1qdeficiency and SLE are presented—both patients had autoantibodiesto the extractable nuclear antigens, Sm, RNP and Ro, and onepatient had high titres of antibodies to dsDNA. One of the patientshad previously been treated with fresh frozen plasma, and antibodiesto C1q were present in his serum. Homozygous C1q deficiencyis associated with a very high prevalence of severe SLE withthe full panoply of autoantibodies characteristic of this disease.     

TYPE 1 CRYOGLOBULINAEMIA ASSOCIATED WITH A THYMIC TUMOUR: SUCCESSFUL TREATMENT WITH PLASMA EXCHANGE

Thymic tumours are associated with a wide range of autoimmuneand haematological disorders, notably myasthenia gravis, redcell aplasia, and systemic lupus erythematosus. An associationwith cryoglobulinaemia has only once been reported previously.In this report we describe a 60-yr-old male patient with a spindlecell thymoma, treated surgically, who also had type 1 cryoglobulinaemia,with severe peripheral circulatory impairment with digital ulcerationand a mononeutitis multiplex. The patient has been successfullytreated with prednisolone, immunosuppression and plasma exchange. KEY WORDS: Cryoglobulinaemia, Thymoma, Plasma exchange, Immunosuppression, Tumour, Corticosteroids     

Hereditary complement factor I deficiency

We describe four cases (from three families) of hereditary factorI deficiency, bringing the total number of cases now reportedto 23. In one family there are two affected siblings: one hassuffered recurrent pyogenic infections; the other is asymptomatic.In the second family, the patient had recurrent pyogenic infectionsand a self-limiting vasculitic illness; in the third family,the patient suffered recurrent pyogenic and neisserial infections.All four patients had markedly reduced concentrations of C3in the serum (family 1 propositus: 28%; family 1 asymptomaticsibling: 15%; family 2: 31%; and family 3: 31 % normal humanserum) which was in the form of C3b. Low lgG₂ levels may occurin primary C3 deficiency, and reduction in lgG₂ concentrationto 1.14 g/l (normal: 1.30–5.90 g/l) was found in the patientfrom family 2. Using radioligand binding assays, we demonstratedincreased binding of C3b to erythrocytes in a patient with factorI deficiency. This C3b could not be cleaved by autologous serumbut could be cleaved by normal serum or purified factor I. Wereview and compare the published cases of C3, factor H and factorI deficiency.     

Comparative study of dual energy X‐ray absorptiometry and quantitative ultrasonography with the use of biochemical markers of bone turnover in boys with haemophilia

Summary. Our aim was to evaluate bone status in boys with haemophilia using dual energy X‐ray absorptiometry (DXA) and quantitative ultraSonography (QUS), and in addition, to compare these two methods with the use of biochemical markers of bone turnover. Twenty‐six boys with a mean decimal age of 12.08 ± 4.44 years were included in the study which included a DXA scan at lumbar spine and radial, as well as tibial QUS. Serum levels of soluble receptor activator of nuclear factor κB ligand (sRANK‐L), osteoprotegerin (OPG) and osteocalcin (OC) were measured and joint evaluation was performed using the Hemophilia Joint Health Score (HJHS). With regard to the study results, only 2 of 26 patients (7.7%) had bone mineral density (BMD) Z‐scores Z‐scores between ?1 and ?2. Only one patient had radial and other two had tibial QUS Z‐scores P = 0.063). Haemophiliacs had significantly higher serum levels of sRANK‐L (21.04 ± 4.78 vs. 18.58 ± 2.28 ng mL^?1, P = 0.038) and of OC (5.35 ± 2.29 vs. 3.09 ± 0.61 ng mL^?1, P = 0.002) and significantly decreased levels of OPG (15.78 ± 2.53 vs. 23.79 ± 4.39 pg mL^?1, P < 0.001) compared with controls. QUS Z‐scores at tibia significantly correlated with HJH Scores (r = ?0.450, P = 0.040), whereas lumbar BMD Z‐scores significantly correlated with body mass index Z‐scores (r = 0.500, P = 0.009). More studies are warranted to identify the most accurate densitometric method for assessing bone status in haemophiliacs.