Prophylactic therapeutic plasma exchange in pregnant woman with Familial Chylomicronemia Syndrome - A case report.

CONTEXT: Familial Chylomicronemia Syndrome (FCS) is an inherited disease where lack of lipoprotein lipase results in severe hypertriglyceridemia that frequently leads to recurrent acute pancreatitis. Pregnancy in patients with familial chylomicronemia syndrome (FCS) post a risk for mother and baby with potential complications (pancreatitis, miscarriage and death). Therapeutic approach includes strict dietary measures and plasma exchange. Despite the development of new drugs for FCS, their safety in pregnancy has not yet been confirmed. CASE DESCRIPTION: We present a case of a young, pregnant female with FCS who had miscarriage in the past during one episode of acute pancreatitis. Due to the inability to achieve lower TG levels with current therapy, from 27-th week of pregnancy we have started prophylactic therapeutic plasma exchange (two times per week). Patient was followed up until the delivery of a healthy baby boy and did not experience an episode of acute pancreatitis. CONCLUSIONS: With adequate supervision and monitoring therapeutic plasma exchange represents a safe approach in pregnant women with FCS in order to reduce TGs and prevent pancreatitis. Therefore, we prevented potential complications for both mother and child.

Acute pancreatitis after ocrelizumab treatment for relapsing remitting multiple sclerosis.

Ocrelizumab is an anti-CD20 monoclonal antibody used in the treatment of relapsing remitting and primary progressive multiple sclerosis. The main side effects are infusion-related with long term administration raising the risk of infections. During randomized controlled trials five cases of pancreatitis have been reported. We present a case of a patient with no risk factors for pancreatitis who after administration developed acute pancreatitis albeit with a good recovery.

[Management of mucopolysaccharidosis type VI in adults]. / SMJERNICE ZA LIJECENJE MUKOPOLISAHARIDOZE (MPS) VI U ODRASLIH BOLESNIKA.

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is a progressive multisystemic lysosomal storage disease. Physical symptoms generally include growth retardation, and bone dysplasia. Enzyme replacement therapy is the treatment of choice and is done with recombinant version of enzyme N-acetylgalactosamine 4-sulfatase (galsulfase) which is administered intravenously. The enzyme replacement therapy should be applied once a week as a life-long treatment. Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb continues with the treatment of MPS VI patients after they turn 18 years of life and are not treated any more by the pediatricians. The aim of this document is to provide the guidelines for diagnosis and management of adult patients with MPS VI which consists not only of regular galsulfase adiministration, but also of regular follow up and treatment of numerous comorbidities. These guidelines were produced by experts from the Division of metabolic diseases, Department of internal medicine, University Hospital Center Zagreb which is the Referral center for rare and metabolic diseases of the Ministry of Health, Republic of Croatia. The guidelines are result of collaboration with pediatricians, radiologists and biochemists without whose experience and advices appropriate treatment of these patients would not be possible. The guidelines were endorsed by the Croatian society for rare diseases, Croatian Medical Association.

[POMPE DISEASE - GUIDELINES FOR DIAGNOSIS AND MANAGEMENT OF ADULT PATIENTS]. / POMPEOVA BOLEST - SMJERNICE ZA DIJAGNOZU I LIJECENJE ODRASLIH BOLESNIKA.

These guidelines provide a short summary of recommendations on Pompe disease, how to diagnose this disease, management of adult patients with this disease, follow-up of the patients and recommendations on therapy and genetic testing. Early diagnosis and management of patients with Pompe disease requires a multidisciplinary approach of several different experts. These guidelines were produced by the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is a Referral expert center for rare and metabolic diseases of the Ministry of Health of the Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association.These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Pompe disease.

[Gaucher disease--guidelines for diagnosis and management of adult patients]. / Gaucherova bolest--smjernice za dijagnozu i lijecenje odraslih bolesnika.

Gaucher disease is an autosomal recessive disorder, characterized by decreased levels of the lysosomal enzyme glucocerebrosidase. This deficiency results in a decreased breakdown of this glycosphingolipid glucocerebroside, which accumulates in the lysosomes of the monocyte-macrophage system. It is the most common form of sphingolipidosis. Clinically, the principle signs of Gaucher's disease are hepatosplenomegaly, bone involvement, hematological changes and CNS involvement. The diagnosis of Gaucher disease has to be confirmed by the measurement of the activity of the enzyme glucocerebrosidase in leukocytes or fibroblasts and genetic testing. An effective therapy for Gaucher disease has now been available for more than 10 years. It consists of life-long intravenous replacement of the deficient enzyme--glucocerebrosidase. If enzyme replacement therapy is started early enough, it leads to significant improvement in patient's general condition and quality of life. The aim of this document is to provide to the Croatian medical audience the guidelines for diagnosis and management of adult patients with Gaucher disease. These guidelines are produced by specialists who have long lasting experience with patients with rare metabolic diseases working in the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb which is the Referral Center for Rare and Metabolic diseases of the Ministry of Health, Republic of Croatia. They were endorsed by the Croatian Society for Rare Diseases, Croatian Medical Association. These are the first guidelines published in Croatia on diagnosis, treatment and follow-up of Gaucher disease.

[Fabry disease--guidelines for diagnosis and management of adult patients]. / Fabryjeva bolest- smjernice za dijagnozu i lijecenje odraslih bolesnika.

Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with Fabry disease. These guidelines were produced by the staff of the Division of Metabolic Diseases, Department of Internal Medicine, University Hospital Center Zagreb, which is the Referral Expert Center for Rare and Metabolic Diseases of the Ministry of Health, Republic of Croatia. The first guidelines ever published in Croatia concerning a rare metabolic disease are presented. This document provides a short summary on Fabry disease, how to diagnose Fabry disease, management of patients with this disease, follow-up of the patients, and gives recommendations on therapy and genetic testing.

Risk factors for microvascular atherosclerotic changes in patients with type 2 diabetes mellitus.

Diabetes mellitus is a metabolic disorder primarily characterized by elevated blood glucose levels and by microvascular and macrovascular complications which increase the morbidity and mortality. The aim of this study was to assess whether in high risk patients with type 2 diabetes mellitus whose blood pressure and lipid levels are well controlled still exist risk factors for microvascular changes and target organ damage (nephropathy and retinopathy). In this case control retrospective study 326 patients (111 with nephropathy and/or retinopathy and 215 controls) were enrolled. Nephropathy or retinopathy was present in 10.1% and 26.9% cases, respectively. Only 71% of patients (no significant difference between cases and controls) were treated with antidiabetic drugs. Therefore their diabetes was not properly controlled (hemoglobin A1c was 7.96% in cases and 7.58% in controls). Patients with microvascular changes had significantly longer diabetes than the controls (p < 0.05) but there were no significant differences between these two groups concerning lipids concentrations. Statins and fibrates were used by significantly less (p < 0.05) patients with microvascular complications than by those without them (21.6% vs. 36.3% and 1.8% vs. 17.2% respectively). The results of this study suggest that the duration of the disease and adequate control of glycaemia in patients with type 2 diabetes mellitus are more important for microvascular complications than the serum lipoproteins levels. Lipid-lowering treatment might have an impact on microvascular complications in patients with type 2 diabetes, irrespectively of their serum lipid levels.

[Familial hypercholesterolemia - do we think enough about this severe disease?]. / Porodicna hiperkolesterolemija - mislimo li dovoljno o ovoj teskoj bolesti?

Familial hypercholesterolemia is the most common genetic metabolic disorder and is associated with significant morbidity and mortality from cardiovascular disease, in particular coronary heart disease (CHD). Gene mutations for LDL receptor, APOB or PCSK9 are the main causes of the disease. The incidence of homozygous form of disease is 1:1000000 and ofheterozygous 1:500. Some of the patients have clinical signs like xanthomas, xanthelasmas and corneal arcus. More predictive for the diagnosis are elevated serum LDL cholesterol values and positive family history of early CHD. Identification of the causative mutation provides definitive diagnosis. Diet, statins, combined therapy (statins and ezetimibe) are the first line of treatment, mostly in high doses. LDL apheresis is the procedure of mechanical removal of LDL particles from plasma and has to be performed in patients with homozygous or severe heterozygous form of the disease together with drug treatment. There is a need to increase the awareness of this disease in Croatia but also worldwide with one main goal: to early diagnose and prevent cardiovascular morbidity and mortality.