Chylothorax treatment with thoracic duct embolization

The authors present a case of a patient with non-traumatic right-sided chylothorax which was successfully treated by thoracic duct embolization. The procedure was performed through the cisterna chyli which was visualised by intranodal lymphography. The coils and acrylic tissue glues were used for embolization. The patient has been followed for 5 months and is free of recurrence of chylothorax.

Prognostic factors affecting the outcome after allogeneic haematopoietic stem cell transplantation for myelodysplastic syndrome.

In the present study, we retrospectively analysed the results of HSCT in 47 consecutive patients with MDS diagnosed at our department between 2002 and 2019, with a focus on possible predictive factors influencing overall survival (OS), the development of relapse, infections, and the occurrence of graft versus host disease (GvHD). In a univariate analysis, the pre-transplantation value of blasts in the marrow < 5% (p = 0.006), the revised International Prognostic Scoring System (IPSS-R) (p = 0.041), and karyotype (p = 0.009) were predictive of OS. Neither the elevation of serum ferritin (> 1000 ug/ml) nor increased C-reactive protein (CRP) (> 5 mg/l) was associated with shorter OS. In contrast, elevated serum lactate dehydrogenase (LDH) (> 213 U/l) was associated with shorter OS (p = 0.04).

Evaluation of serum levels of selected cytokine receptors in adult B-cell precursor acute lymphoblastic leukemia and their association with prognostic factors and survival.

AIM: To evaluate serum levels of selected cytokine receptors in B-cell precursor acute lymphoblastic leukemia (B-ALL) and their association with acknowledged prognostic factors, relapse-free survival (RFS) and overall survival (OS). MATERIALS AND METHODS: A total of 42 de novo adult B-ALL patients, 19 BCR/ABL positive, were included in this study. Soluble receptor α for IL-2 (sIL-2Rα), soluble receptor for IL-6 (sIL-6R), soluble receptor for TNF-α type I and II (sTNFR-1, sTNFR-2) and matrix metalloproteinase-9 (MMP-9) were measured by biochip array technology at diagnosis and in complete remission (CR). RESULTS: At diagnosis of B-ALL, we found significantly higher levels of sIL-2Rα, sIL-6R, sTNFR-1, sTNFR-2 and significantly lower levels MMP-9 in comparison with CR (p < 0.001 in all cases). BCR/ABL positive patients had higher levels of sIL-2Rα at diagnosis (r = 0.484; p = 0.014). Serum levels of evaluated cytokines were not associated with achievement of CR after one cycle of induction therapy, RFS or OS. CONCLUSION: Serum levels of all evaluated cytokines are significantly altered in newly diagnosed B-ALL reflecting activity of the disease. No significant correlations with response to first induction therapy, RFS or OS were found. Further studies with a longer follow-up will be needed.

Blastic plasmacytoid dendritic cell neoplasm: First retrospective study in the Czech Republic.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic malignancy with aggressive behavior and poor prognosis. We present the first retrospective analysis mapping its incidence and therapeutic outcomes in patients diagnosed and treated from 2000 to 2017 in the Czech Republic. The cohort comprised 14 patients (10 males, 4 females) with a median age at diagnosis of 39 years (range, 5-68 years). Initially, skin involvement was noted in 10 (71%) patients and bone marrow infiltration was present in 9 (64%). The first complete remission was achieved in 6/14 (43%) patients after acute lymphoblastic leukemia/lymphoma induction therapy and in 3/14 (21%) patients after acute myeloid leukemia regimen. Nine patients underwent allogeneic hematopoietic cell transplantation, with two patients achieving the first complete remission only after allogeneic transplantation. Patients undergoing allogeneic hematopoietic cell transplantation had longer overall survival than those treated without transplantation (the median survival over the period 16.4 vs. 8.1 months). Relapse of the disease was a significant predictor of mortality (p=0.05). Over the study period, patients' survival ranged from 3.3 to 44.2 months, with a median overall survival of 13 months. Our results revealed an effectivity of allogeneic hematopoietic cell transplantation on complete remission achievement in refractory/relapsed disease. The study aimed to present the actual data from the Czech Republic and thus contribute to a global understanding of BPDCN.

BAL fluid analysis in the identification of infectious agents in patients with hematological malignancies and pulmonary infiltrates.

The present study aims to evaluate the diagnostic yield of bronchoalveolar lavage (BAL) fluid in patients with hematological malignancies and describe the most common pathogens detected in BAL fluid (BALF.) An analysis of 480 BALF samples was performed in patients with hematological malignancies over a period of 7 years. The results of culture methods, PCR, and immunoenzymatic sandwich microplate assays for Aspergillus galactomannan (GM) in BALF were analyzed. Further, the diagnostic thresholds for Aspergillus GM and Pneumocystis jiroveci were also calculated. Microbiological findings were present in 87% of BALF samples. Possible infectious pathogens were detected in 55% of cases; 32% were classified as colonizing. No significant difference in diagnostic yield or pathogen spectrum was found between non-neutropenic and neutropenic patients. There was one significant difference in BALF findings among intensive care units (ICU) versus non-ICU patients for Aspergillus spp. (22% versus 9%, p = 0.03). The most common pathogens were Aspergillus spp. (n = 86, 33% of BAL with causative pathogens) and Streptococcus pneumoniae (n = 46, 18%); polymicrobial etiology was documented in 20% of cases. A quantitative PCR value of > 1860 cp/mL for Pneumocystis jirovecii was set as a diagnostic threshold for pneumocystis pneumonia. The absorbance index of GM in BALF of 0.5 was set as a diagnostic threshold for aspergillosis. The examination of BAL fluid revealed the presence of pathogen in more than 50% of cases and is, therefore, highly useful in this regard when concerning pulmonary infiltrates.

Reduction of Thymoglobuline from 7.5 mg/kg to 6 mg/kg in conditioning regimen extended time to the first cytomegalovirus detection after allogenic haematopoietic stem cell transplantation.

INTRODUCTION: The optimal dosage of anti-thymocyte globulin (ATG) may influence the outcome of patients after allogenic haematopoietic stem cell transplantation (HSCT). The aim of our study was to analyse human cytomegalovirus (CMV) infection data, incidence of graft-versus-host disease and other clinical endpoints comparing two patients cohorts that were administered two different Thymoglobuline Genzyme doses as part of the HSCT conditioning regimen. MATERIALS AND METHODS: Total of 65 adult patients received ATG (7.5 mg/kg or 6 mg/kg) as a part of the fludarabine/busulfan/ATG conditioning regimen. CMV DNAemia was monitored after HSCT using quantitative real-time PCR and preemptive treatment was started for viral loads above 1000 cp/ml. RESULTS: The mild ATG dose reduction extended the time to the first CMV detection after transplantation (28 days for 7.5 mg/kg dose vs. 40 days for 6 mg/kg dose, p = 0.04). But it did not reduce the incidence or influence first anti-CMV treatment onset, the initial viral load, peak viral load in whole blood or the antiviral therapy parameters (all p 0.18). No impact of ATG dose reduction on incidence of graft-versus-host-disease, relapse of underlying disease or mortality within first year after transplantation (all p 0.32) were observed. CONCLUSIONS: The reduced ATG dosages can allow lower toxicity of conditioning regimen while keeping the performance.

Correlation of tumor necrosis factor alpha, interleukin 6 and interleukin 10 with blood pressure, risk of preeclampsia and low birth weight in gestational diabetes.

Several pathophysiological mechanisms have been proposed in the development of pregnancy complications, including endothelial dysfunction, an inflammatory pathway and oxidative stress. The aim of the present study was to evaluate the correlation between proinflammatory cytokines TNF-alpha, IL-6 and dual cytokine IL-10 in the mother's peripheral blood and systolic blood pressure, risk of preeclampsia and low birth weight in gestational diabetes (GDM). We observed 40 women with GDM divided into a gestational hypertension group (n=20) and comparison group (n=20) with normal blood pressure. We found a significant positive correlation between TNF-alpha; IL-6; IL-10 levels and systolic blood pressure (SBP) in the second trimester (p<0.001; p<0.001; p<0.001); the third trimester (p<0.001; p<0.001; p<0.05). We also proved correlations for diastolic blood pressure (DBP) during the second; third trimester (p<0.001; p<0.001; p<0.001); (p<0.001; p<0.001; p<0.0015). We demonstrated a statistically significant positive association between high TNF-alpha group and preeclampsia risk in the third trimester (p=0.04). We also determined the negative correlation in the second trimester between birth weight and TNF-alpha; IL-6, IL-10 levels (p<0.05; p<0.001; p<0.001). To conclude, our data highlight the importance of cytokines TNF-alpha, IL-6 and IL-10 in blood pressure regulation. In addition, high levels of TNF-alpha have been associated with increased risk of preeclampsia. We found a significant negative correlation between levels of TNF-alpha, IL-6, IL-10 and birth weight.

Highly selective hydrosilylation of olefins and acetylenes by platinum(0) complexes bearing bulky N-heterocyclic carbene ligands.

Platinum complexes bearing bulky N-heterocyclic carbene (NHC) ligands, i.e., [Pt(IPr*)(dvtms)] (where, IPr* = 1,3-bis{2,6-bis(diphenylmethyl)-4-methylphenyl}imidazol-2-ylidene) and [Pt(IPr*OMe)(dvtms)] (where, IPr*OMe = 1,3-bis{2,6-bis(diphenylmethyl)-4-methoxyphenyl}imidazol-2-ylidene, dvtms = divinyltetramethyldisiloxane) catalyse nearly quantitatively and highly or completely the selective hydrosilylation of terminal olefins as well as terminal or internal acetylenes.

Viridans group streptococci bloodstream infections in neutropenic adult patients with hematologic malignancy: Single center experience.

Viridans group streptococci bloodstream infections (VGS BSI) remain a significant cause of mortality and morbidity in patients with severe neutropenia. The goal of our study was to evaluate clinical course and microbiological susceptibility of VGS BSI at our center. Retrospective analysis of all microbiologically documented bloodstream infections caused by VGS during the 9-year time period (from January 2006 until December 2014) was carried out. Only patients with severe neutropenia (< 500/µL) were included in the study. Clinical outcome and microbiological susceptibility pattern of isolates were recorded. Fifty-one individual patients with episode of VGS BSI were identified. The most frequent agent was Streptococcus mitis (23/51 cases, 45.1%). 88.2% (45/51) of patients were on recommended ciprofloxacin prophylaxis. 20/51 (39.2%) of patients suffered from mucositis at the time of diagnosis (10 patients had oral mucositis, 2 patients had bowel mucositis, and 8 patients both). Twenty-six patients (51.0%) had clinically relevant lung damage caused by VGS BSI (i.e., acute lung injury or acute respiratory distress syndrome). Twenty-four (47.0%) patients presented with bilateral lung infiltrated upon chest imaging, and two (4.0%) patients had unilateral lung infiltrates. Three patients (5.9%) died due to VGS BSI until day 28 of observation. No difference in signs of shock syndrome was observed in the patients during transplantation procedures compared to patients without transplantation as well as in a group received previous high-dose chemotherapy with cytosinarabinoside or in patients with mucositis. Only 3/51 of isolates (5.9%) were resistant to penicillin. All isolates were susceptible to empirical treatment. While the penicillin resistance of VGS remains low in middle Europe, initial antibiotic therapy of febrile neutropenia are still effective in most cases. The mortality and complication rates of VGS BSI were comparable to other studies, and no specific risk factor of shock presence could be identified.

Selective synthesis of E-vinylsilanes and E,E-divinylsilanes via platinum-catalyzed hydrosilylation of alkynes with secondary silanes.

Platinum-N-heterocyclic carbene complex with the formula [Pt(IPr*OMe)(dvtms)] (where IPr*OMe = 1,3-bis{2,6-bis(diphenylmethyl)-4-methoxyphenyl}imidazol-2-ylidene, dvtms = divinyltetramethyldisiloxane) exhibits a high catalytic activity towards the ß-E-selective hydrosilylation of terminal acetylenes with many secondary silanes (46 examples). Depending on the ratio of the reagent concentrations, the products of mono- or disubstitution are selectively obtained. Moreover, the one-pot sequential hydrosilylation of two different alkynes with secondary silane was also achieved over the same platinum catalyst.

Antioxidant defense system in familial hypercholesterolemia and the effects of lipoprotein apheresis.

Oxidative stress is thought to play an important role in the pathogenesis of disorders associated with atherosclerosis. Alpha-tocopherol is considered to be an effective lipophilic antioxidant, which protects lipid membranes against peroxidation and thus prevents cell damage by reaction with free radicals. However, measurement of alpha-tocopherol concentration in serum does not reflect the content of α-tocopherol in membranes whereas erythrocyte alpha-tocopherol may be good indicator of antioxidative status. Therefore a simple isocratic reversed phase HPLC method has been developed and validated for the determination of alpha-tocopherol in human erythrocytes in a clinical setting. The content of alpha-tocopherol in human erythrocyte membrane and lipoperoxidation were studied in patients with severe hypercholesterolemia treated by lipoprotein apheresis. The group of hypercholesterolemic patients (n = 14) treated by lipoprotein apheresis was compared to healthy adult normolipidemic controls. After lipoprotein apheresis, the content of in membrane alpha-tocopherol did not change significantly despite decreased tocopherol in serum and lipoprotein fractions. We observed significantly decreased lipoperoxidation as revealed by serum TBARS, representing end products of lipid peroxidation, which increased from third day afterwards and remained significantly higher in comparison to controls until the next LDL-apheresis. We conclude that aggressive lipid lowering procedure with lipoprotein apheresis was associated with favorable transient decrease of lipoperoxidation. Simultaneously the cell membrane bound antioxidative defense mechanisms as reflected by the content of alpha-tocopherol in human erythrocyte membrane where not depressed in spite of its decreased plasma lipid carrier. Another variables involved remain to be investigated.

Age-related adaptive responses of mitochondria of the retinal pigment epithelium to the everyday blue LED lighting.

The effect of everyday blue light (λ = 440-460 nm) on mitochondria of the retinal pigment epithelium of different age groups of Japanese quail was studied using electron microscopy, morphometric methods, and biochemical analysis. We have found a significant increase in the number of mitochondria, including those modified, mainly in young birds. In addition, cell metabolic activity increased in response to blue lighting. These changes are assumed to reflect an adaptive response of mitochondria aimed at neutralizing the phototoxic effect of blue light caused by accumulation of lipofuscin granules.

Apheresis data registration in WWA registry-10-year experience of our center.

INTRODUCTION: The WAA Registry allows detailed registration of hemapheresis data. Our center registers results there as well. We summarize our results as compared to those of the WAA Registry. MATERIALS AND METHODS: Hemapheresis results are registered in the WAA Registry in Umea, Sweden. The patients' identity is protected by coding. General data (age, gender, weight, procedure, technique used etc.) or special data (occurrence and type of adverse reactions, health condition, quality of life etc.) are completed in a pre-defined form. RESULTS: In 2006-2016, we registered 7,927 hemaphereses in 956 patients in the WAA Registry; 40.4% in men and 59.6% in women aged 53±15years. There were mostly no significant differences in the individual interventions between our center and the WAA Registry; only the share of cascade filtrations/rheophereses is quite different (9 times higher in our center - 18.2% of interventions as compared to 2.1% in the WAA Registry). The share of photophereses (32.1%) is relatively high - due to cooperation with the bone marrow transplantations department. DISCUSSION AND CONCLUSION: In regular quality assessment, one center usually does not have enough data and experience with some diseases or interventions; therefore, comparison with the WAA Registry results is valuable not only for the quality of interventions but also for side effect prevention. On the other hand, the advantage is that every center has its unique code and may work quite independently (quick and independent non-competitive assessments). Five-minute duration of registration is advantageous in a time-demanding work; moreover, the registration is free.

Lipoprotein apheresis in the treatment of dyslipidaemia - the Czech Republic experience.

In 1984, we started using therapeutic plasmapheresis (plasma exchange) as a method of extracorporeal lipoprotein elimination for the treatment of hypercholesterolemic patients. We evaluated the results of long-term therapy in 14 patients, 8 men and 6 women. The average age was 55.6+/-13.2 (range 28-70), median 59.5 years. 14 patients were diagnosed with familial hypercholesterolemia (FH): 5 homozygous, 9 heterozygous. Ten patients in the group were treated using immunoadsorption lipoprotein apheresis and 4 using hemorheopheresis. Immunoapheretic interventions decreased LDL-cholesterol (82+/-1 %), ApoB (73+/-13 %) and even Lp(a) by 82+/-19 %, respectively. Selected non-invasive methods are important for long-term and repeated follow-up. Carotid intima-media thickness showed improvement or stagnation in 75 % of the patients. Biomarkers of endothelial dysfunction such as endoglin (in the control group: 3.85+/-1.25 microg/l, in lipoprotein apheresis-treated hypercholesterolemic individuals 5.74+/-1.47 microg/l), CD40 ligand (before lipoprotein apheresis: 6498+/-2529 ng/l, after lipoprotein apheresis: 4057+/-2560 ng/l) and neopterin (before lipoprotein apheresis: 5.7+/-1.1 nmol/l, after lipoprotein apheresis: 5.5+/-1.3 nmol/l) related to the course of atherosclerosis, but did not reflect the actual activity of the disease nor facilitate the prediction or planning of therapy. Hemorheopheresis may improve blood flow in microcirculation in familial hypercholesterolemia and also in some other microcirculation disorders via significantly decreased activity of thrombomodulin (p<0.0001), tissue factor (p<0.0001), aggregation of thrombocytes (p<0.0001) and plasma and whole blood viscosity (p<0.0001). In conclusion, lipoprotein apheresis and hemorheopheresis substantially lowered LDL-cholesterol in severe hypercholesterolemia. Our experience with long-term therapy also shows good tolerance and a small number of complications (6.26 % non-serious clinical complications).

Characteristics and outcome of patients with therapy-related acute promyelocytic leukemia front-line treated with or without arsenic trioxide.

Therapy-related acute promyelocytic leukemia (t-APL) is relatively rare, with limited data on outcome after treatment with arsenic trioxide (ATO) compared to standard intensive chemotherapy (CTX). We evaluated 103 adult t-APL patients undergoing treatment with all-trans retinoic acid (ATRA) alone (n=7) or in combination with ATO (n=24), CTX (n=53), or both (n=19). Complete remissions were achieved after induction therapy in 57% with ATRA, 100% with ATO/ATRA, 78% with CTX/ATRA, and 95% with CTX/ATO/ATRA. Early death rates were 43% for ATRA, 0% for ATO/ATRA, 12% for CTX/ATRA and 5% for CTX/ATO/ATRA. Three patients relapsed, two developed therapy-related acute myeloid leukemia and 13 died in remission including seven patients with recurrence of the prior malignancy. Median follow-up for survival was 3.7 years. None of the patients treated with ATRA alone survived beyond one year. Event-free survival was significantly higher after ATO-based therapy (95%, 95% CI, 82-99%) as compared to CTX/ATRA (78%, 95% CI, 64-87%; P=0.042), if deaths due to recurrence of the prior malignancy were censored. The estimated 2-year overall survival in intensively treated patients was 88% (95% CI, 80-93%) without difference according to treatment (P=0.47). ATO when added to ATRA or CTX/ATRA is feasible and leads to better outcomes as compared to CTX/ATRA in t-APL.

Antibodies against Pneumococcal Capsular Polysaccharides and Natural Anti-Galactosyl (Alpha-Gal) in Patients with Humoral Immunodeficiencies.

Humoral deficiencies represent a broad group of disorders. The aim of the study was to compare the levels of antibodies against pneumococcal capsular polysaccharides (anti-PCP) and natural anti-galactosyl (anti-Gal) antibodies in (1) patients with chronic lymphocytic leukaemia (CLL), (2) patients with common variable immunodeficiency (CVID), and (3) a healthy population and to explore their diagnostic and prognostic potential. Serum immunoglobulin levels and levels of anti-Gal IgG, IgA, and IgM and anti-PCP IgG and IgG2 were determined in 59 CLL patients, 30 CVID patients, and 67 healthy controls. Levels of IgG, IgA, IgM, anti-Gal IgA, anti-Gal IgM, and anti-PCP IgA were lower in CLL and CVID patients than in healthy controls (p value for all parameters < 0.0001). Decrease in the levels of IgA, IgM, anti-Gal IgA, and anti-PCP IgA was less pronounced in the CLL group than in the CVID group. IgA decline, anti-Gal IgA, anti-PCP IgA, and anti-PCP IgG2 were negatively correlated with CLL stage. We devise the evaluation of anti-Gal antibodies to be a routine test in humoral immunodeficiency diagnostics, even in cases of immunoglobulin substitution therapy. Significant reductions, mainly in anti-Gal IgA, IgM, and anti-PCP IgA levels, may have prognostic importance in CLL patients.

Photoinduced changes in subcellular structures of the retinal pigment epithelium from the Japanese quail Coturnix japonica.

Fifteen-week-old sexually mature female Japanese quails (Coturnix japonica) grown under various lighting conditions were used in the study. It was found that the number of mitochondria and phagosomes was increased by 1.5-fold in the retinal pigment epithelium from birds reared for 95 days under blue light (440-470 nm) vs. reduced blue light component conditions. Also, it was found that egg production was increased by 15% in birds reared under blue light compared to other lightning conditions. Thus, we concluded that blue light conditions resulted in elevating metabolic activity and accelerating pace of life in Japanese quails. It is assumed that the blue light-induced effects are probably due to inhibition of melatonin synthesis.

Venous thromboembolism in patients with chronic lymphocytic leukemia.

INTRODUCTION: Venous thromboembolism (VTE) is a major cause of morbidity and mortality in patients (pts) with malignant tumors. Increased risk of VTE is well described in a variety of hematologic malignancies; however, data regarding VTE in chronic lymphocytic leukemia (CLL) is very limited. PATIENTS AND METHODS: We retrospectively analyzed clinical and laboratory data of 346 consecutive pts with CLL followed up at 4th Department of Internal Medicine - Hematology, University Hospital, Hradec Kralove, Czech Republic, diagnosed between 1999 and 2011 (males, 64%; median age, 64 years; low/intermediate/high Rai modified risk in 41/47/12%). RESULTS: After a median follow-up of 72 months (range, 26-138), at least one episode of VTE occurred in 38 patients (11%). VTE developed after a median of 34 months from CLL diagnosis. Incidence of VTE was 1.67% per patient year of follow-up. There was a high proportion of unfavourable prognostic factors (advanced Rai stages, unmutated IgVH genes, unfavourable cytogenetics) in pts with VTE. The presence of 0/1/2/3 additional risk factors for VTE was identified in 2/16/14/6 patients. The most common risk factors for VTE besides age (n=24) were corticosteroid therapy (n=13), other malignancies (n=9) and obesity (n=7). Recurrence of VTE was diagnosed in 7 pts. Performance status ≥ 2 and inherited thrombophilia were significant risk factors for VTE development in univariate and multivariate analysis. VTE was not associated with shorter overall survival. CONCLUSION: Based on our results, VTE is a relatively frequent complication in patients with CLL. Although most patients had other known risk factors for VTE including CLL treatment, 29% had no risk factors or only age ≥ 60 years. These findings demonstrate the possible role of CLL in the development of VTE.

[Ganciclovir treatment failure in adult allogeneic hematopoietic stem cell transplant recipients with cytomegalovirus infection--a single centre experience]. / Klinická rezistence lidského cytomegaloviru pri lécbe gancyklovirem u pacientu po alogenní transplantaci hematopoetických bunek--zkusenosti jednoho centra.

OBJECTIVE: To determine the incidence of infection with ganciclovir-resistant cytomegalovirus (CMV) in adult allogeneic hematopoietic stem cell transplant (HSCT) recipients. Clinical resistance or treatment failure was defined as persistent DNAemia or increasing viral load in peripheral blood after 2 weeks of virostatic treatment. The association between the treatment failure and viral resistance was analysed. The presence of ganciclovir-resistant CMV strains was confirmed by genotypic testing able to detect mutations conferring resistance. METHODS: In 2012 and 2014, 40 patients who underwent allogeneic HSCT for hematologic malignancies and were treated for human CMV reactivation/disease were followed up prospectively. In patients with treatment failure, CMV DNA was isolated and analysed by nucleotide sequence analysis of the UL 97 and UL 54 genes conferring resistance to the virostatic agent. RESULTS: The treatment failure occurred in seven patients, but ganciclovir resistance conferring mutations were only detected in two of them (mutations L595F and M460I in the UL 97 gene). Another mutation in the UL 97 gene (N510S) was found in a patient with recurrent CMV replication who needed to be retreated but did not meet the criteria for treatment failure. CONCLUSION: The low incidence of genetically confirmed ganciclovir-resistant CMV isolates in HSCT recipients with relatively common clinical treatment failure suggests that the mechanism underlying slower viral clearance is often other than mutations conferring ganciclovir resistance to the virus.

Pregnancy in homozygous familial hypercholesterolemia--Importance of LDL-apheresis.

INTRODUCTION: Rare cases of pregnancy in women with homozygous familial hypercholesterolemia (HFH) have been reported. HFH might pose significant risks for the mother and her fetus. Statins, the most potent agents for low-density lipoprotein (LDL) cholesterol reduction, are contraindicated; thus lipoprotein apheresis remains the only effective treatment. CASE REPORT: We report on a 34-year-old pregnant woman with HFH who was treated throughout the entire pregnancy by lipoprotein apheresis (immunoadsorption method). Increasing levels of LDL-cholesterol were stabilized at 9-10 mmol/L by lipoprotein apheresis (performed every 10 days). No complications were observed during the treatment procedures. Monitoring of the fetus revealed no impairment of the umbilical cord and blood flow in the uterine arteries, as well as no intrauterine growth retardation. The delivery was spontaneous and the child was breastfed for two months. CONCLUSION: Intensive treatment by lipoprotein apheresis is an effective and safe therapeutic strategy during pregnancy, even in severe cases of HFH, as it can stabilize progressively increasing lipoprotein levels and prevent severe complications.