Marija Crnić-Martinović

Hemochromatosis gene mutations in the Croatian and Slovenian populations

The study provide the prevalence of the C282Y, H63D and S65C. mutations in two Slavic populations (Croatian and Slovenian) in SE Europe which further support the well documented European NW-too-SE gradient of the C282Y mutation distribution. Our results have an important clinical implication for the detection and management of hemocromatosis in both observed populations.

Cytomegalovirus reactivation after low-dose steroid treatment for hemolytic anemia in a patient with primary Epstein-Barr virus infection.

ZusammenfassungBei Cytomegalie-seropositiven Patienten kann eine intensive therapeutische Suprimierung der Immunabwehr zur Reaktivierung einer latenten Cytomegalovirus-Infektion führen. Viele dieser immunsuppressiven Therapie-Protokolle enthalten auch hochdosierte Kortikosteroide. Nicht bekannt ist hingegen, ob eine Behandlung mit niedrigen Dosen von Kortikosteroiden bei sonst gesunden Personen eindeutig mit einer Reaktivierung von Cytomegalovirus verbunden ist. Wir beschreiben die Reaktivierung einer Cytomegalovirus-Infektion mit bei einem 21-jährigen immunkompetenten Mann, der einen Monat lang mit niedrigen Dosen von Kortikosteroiden behandelt wurde. Die Indikation zur Steroidtherapie war eine ausgeprägte hämolytische Anämie, ausgelöst durch eine primäre Mononukleose (Epstein-Barr).SummaryCytomegalovirus reactivation is a well described event occurring after intensive therapeutic suppression of the immune function in patients with latent infection. Treatment protocols for suppression of the immune response often include high-dose steroids. However, it is not known whether even a low-dose steroid treatment can reactivate latent cytomegalovirus in otherwise healthy persons. We documented cytomegalovirus reactivation after low-dose steroid treatment for autoimmune hemolytic anemia as a complication of Epstein-Barr virus mononucleosis in an immunocompetent 21-year-old man.

A Case of Lichen Ruber Planus in a Patient with Familial Multiple Sclerosis

Multiple sclerosis and lichen ruber planus are clinically and histologically distinct complex disorders of putative autoimmune aetiology that are fairly commonly observed in isolation but rarely found in combination. Only two previous reports have described lichen skin disorders in association with multiple sclerosis. The present report describes the case of a 51-year old Caucasian woman exhibiting both familial multiple sclerosis and lichen ruber planus. This combination may have occurred by chance or it might imply that these disorders share common mechanisms in their pathogenesis.

Low frequency of HFE gene mutations in Croatian patients suspected of having hereditary hemochromatosis

Summary Background Hereditary hemochromatosis (HH) is a common autosomal recessive disorder in populations of European descent. It is characterized by a variable prevalence of mutations in the hemochromatosis gene (HFE) in different countries and a complex relationship between the HFE genotype and the HH phenotype. Genetic analysis has not been conducted in Croatian patients with iron overload. The aim of this study was to determine whether HFE mutations, C282Y, H63D, and S65C were correlated with clinical and biochemical parameters in Croatian patients with suspected HH. Material/Methods Clinical examination, biochemical analysis, and genotyping were performed in 175 patients suspected of having HH. The control group consisted of 350 healthy blood donors. Results Among the patients, 20% had genotypes related to HH – 7.4% were homozygous for C282Y, 6.3% were compound heterozygous for C282Y and H63D, 5.7% were homozygous for H63D, and 0.6% was compound heterozygous for C282Y and S65C. The allelic frequencies were 14.6% for C282Y mutation, 23.7% for H63D mutation, and 1.4% for S65C mutation. A comparison of the clinical and laboratory profiles of patients revealed that C282Y homozygotes had higher frequencies of all clinical symptoms and higher levels of biochemical parameters than others. The C282Y/H63D compound heterozygotes and H63D homozygotes were found to be clinically important, despite the fact that they were associated with less severe disease. Conclusions Our results show that HFE mutations are responsible for only about 20% of Croatian patients with suspected HH. Screening with biochemical methods and HFE genotyping may be not sufficient for diagnoses in the Croatian population.