Prevention of allergic diseases

Prevalencija alergijskih bolesti pokazuje brzu tendenciju rasta diljem svijeta. Identificiranje mehanizama kojima bi se u ranom djetinjstvu prevenirale alergije značajno bi smanjilo teret bolesti kasnije u životu i smanjilo bi morbiditet i mortalitet uzrokovan anafilaksijom. Preventivne mjere možemo podijeliti u primarne, sekundarne i tercijarne. Primarnom prevencijom djelujemo na sprječavanje senzitizacije na pojedine alergene. Dokazi sugeriraju da izbjegavanje pojedinih alergena u hrani tijekom trudnoće ili dojenja neće značajno utjecati na razvoj alergije u potomka. Poželjno je rano uvođenje namirnica s visokim alergenim potencijalom u prehranu doječeta (kikiriki, mlijeko, jaja). Sekundarna prevencija usmjerena je na bolesnike s već postojećim alergijama u svrhu širenja senzitizacijskog profila. Tercijarnoj prevenciji alergijskih bolesti cilj je smanjiti rizik anafilaksije i inducirati toleranciju.The prevalence of allergic diseases shows a rapid tendency to increase worldwide. Identifying mechanisms to prevent allergies in early childhood would significantly reduce the burden of disease later in life and reduce morbidity and mortality caused by anaphylaxis. Preventive measures can be divided into primary, secondary and tertiary. Evidence suggests that avoiding certain food allergens during pregnancy or breastfeeding will not significantly affect the development of allergy in the offspring. It is desirable to introduce foods with a high allergenic potential into the diet of infants (peanuts, milk, eggs). Secondary prevention is aimed at patients with already existing allergies in order to prevent further sensitization. The objective of tertiary prevention of allergic diseases is to reduce the risk of anaphylaxis and induce allergen tolerance

Neonatal Hemophagocytic Lymphohistiocytosis – Case Report

Hemophagocytic lymphohystiocytosis (HLH) represents a severe hyperinflammatory condition with the cardinal symptoms prolonged fever, hepatosplenomegaly, and cytopenias. The most prominent histopathological feature of HLH is an accumulation of activated T lymphocytes and macrophages predominantly in lymphoid tissues. Although it can occur in all age groups, neonatal-onset HLH is very rare. We report on a case of HLH presenting with anemia and respiratory distress at birth. Several weeks prior to diagnosis the symptoms were attributed to a systemic infection. The child developed typical clinical and laboratory findings, and was diagnosed with HLH according to HLH-2004 guidelines. Chemo- -immunotherapy was initiated, but after a temporary control of the disease the patient succumbed to rapidly progressive HLH. Post-mortem, extensive hemophagocytosis was found in multiple organs. No specific genetic defect was identified. HLH is potentially fatal childhood disease. It is important for pediatricians to be able to early identify this disorder and commence the therapy before overwhelming disease activity develops

Nutritional Risk Screening in Hospitalized and Haemodialysis Patients

Malnutrition is an independent risk factor impacting on higher complications and increased length of hospital stay and costs. The aim of this study was to determine the prevalence of nutritional risk among patients on regular haemodialysis (HD) (Group I, N=105) and among the patients at Gastroenterology, Endocrinology, Hematology and Clinical Immunology (Group II, N=652). Cross-sectional nutritional evaluation was done using Nottingham Hospital Screening Tool (NS). The prevalence of nutritional risk was 9% in Group I and 21% in Group II (p=0.0002). We found statistically significant larger quantity of malnourished patients among acute internistic patients than among chronic from the same Group II. Malnutrition among patients on HD didn’t differ statistically to chronic internistic patients. We didn’t found a significantly higher percentage of nutritional risk among elderly patients (65 years and more). Correlation between body mass index (BMI) and NS was significant, but weak (r=–0.32). We can conclude that the prevalence of nutritional risk among HD patients was lower than we had expected. It seems that the screening tool we used is not sensitive enough for HD patients and needs further investigations

Allergic sensitization related to age and clinical presentation

Cilj: Odrediti profil alergijske senzitizacije i okidače alergijskih simptoma prema dobi djeteta i tipu alergijske bolesti. Ispitanici i metode: Restrospektivno su analizirani rezultati kožnih ubodnih testova na inhalatorne i nutritivne alergene u lokalnoj populaciji ispitanika (n=1102; dob 0-18 god; 58% (n=640) dječaka i 42% (n=462) djevojčice) koji boluju od: astme s pridruženim alergijskim rinitisom ili rinokonjunktivitisom 29% (n=323), alergijskog rinitisa 24% (n=269), atopijskog ekcema 21% (n=226), alergijskog rinokonjunktivitisa 13% (n=148), astme 8% (n=85), te akutne alergijske urtikarije 5% (n=51). Podaci o neposredno zamijećenim okidačima alergijskih simptoma dobiveni su analizom anamnestičkih podataka. Rezultati: U ispitanika dojenačke dobi značajno dominira senzitizacija na nutritivne alergene (P<0,001). Senzitizacija na inhalatorne alergene ima značajniju učestalost tek nakon treće godine života. Od inhalatornih alergena najranije se pojavljuje senzitizacija na alergene grinja i na alergene dlakavih kućnih ljubimaca (P=0,003). Senzitizacija na peludi postaje važnija tek u školskoj dobi. U ispitanika s astmom i alergijskim rinitisom prevladava senzitizacija na inhalatorne alergene, dominantno na grinje (P=0,007), osim u alergijskom rinokonjunktivitisu gdje dominira senzitizacija na peludi trava. Ispitanici s ekcemom i akutnom urtikarijom većinom su senzitizirani na nutritivne alergene kao što su jaja, orašasti plodovi i kravlje mlijeko, ali značajno je prisutna i senzitizacija na grinje. Ispitanici i njihovi roditelji rijetko povezuju alergene kao neposredne okidače alergijskih simptoma. Ukoliko ih povezuju, najčešće kao okidače navode sezonu cvatnje, kontakt s dlakavim kućnim ljubimcima i konzumaciju jajeta. Zaključak: Dobiveni rezultati imaju praktičnu vrijednost u svakodnevnom radu s lokalnom populacijom bolesnika. Oni mogu pomoći u racionalnom odabiru aktualnih i relevantnih alergena za kožno alergijsko testiranje vodeći računa o dobi djeteta i njegovoj alergijskoj bolesti.Aim: To determine sensitization profile and allergic triggers related to allergic disease and the age of the child. Subjects and methods: Results of skin prick tests were retrospectively analyzed to inhalational and nutritive allergens in the local population of subjects (n=1102; age 0-18 years; 58% (n=640) boys and 42% (n=462) girls) who suffer from asthma associated with allergic rhinitis or rhinoconjunctivitis 29% (n=323), allergic rhinitis 24% (n=269), atopic eczema 21% (n=226), allergic rhinoconjunctivitis 13% (n=148), allergic asthma 8% (n=85) and acute allergic urticaria 5% (n=51). Data considering diretcly notable triggers of allergic symptoms were obtained from medical history. Results: Sensitization to nutritive allergens dominates in infants (P=0.001). Sensitization to inhalant allergens has siginificant frequency in children after three years of age Sensitization to mite allergens and hairy pets appeared firstly (P=0.003). Sensitization to pollen becomes significant at school age. In subjects with asthma and allergic rhinitis dominate sensitization to inhalant allergens, mostly on mites (P=0.007), except in allergic rhinoconjunctivitis where sensitization to grass pollen is dominant. Subjects with eczema and acute urticaria are mostly sensitized to nutritive allergens such as eggs, nuts and cow's milk. However, sensitization to mites seems to be also important. Allergens are seldom observed as direct triggers of allergic symptoms. In case they are mostly associated with pollination, with hairy pets and with the consumption of eggs. Conclusion: The results are of practical importance for everyday evaluation of allergic sensitization in local population of patients. They can help in the rational selection of current and relevant allergens for skin prick testing taking care of the child's age and its allergic disease or symptoms

An unusual clinical course of congenital subglottic stenosis – case report

Cilj: Prikazati slučaj neuobičajenog kliničkog tijeka prirođenog laringealnog stridora i razmotriti indikacije za endoskopskim pregledom u takvim slučajevima. Prikaz slučaja: Terminsko eutrofično muško novorođenče je po porodu radi akutnog skrotuma te respiratornih teškoća u vidu tahipneje i hipoksemije primljeno u Kliniku za pedijatriju. Neposredno nakon kirurškog zahvata dijete je rutinski ekstubirano. Međutim, vrlo brzo nakon odvajanja od tubusa ponovno je naglo razvilo respiratorne teškoće obilježene stridorom i hipoksemijom. Dijete je ponovno intubirano i vraćeno na strojnu ventilaciju. U daljnjem tijeku se u više navrata pokušavao provesti postupak ekstubacije. Isti nije bilo moguće učiniti jer bi se nakon odvajanja od tubusa vrlo brzo vratili znakovi respiratornih teškoća pod kliničkom slikom akutnog laringotraheobronhitisa. S obzirom na probleme otežane ekstubacije i ovisnosti o tubusu te na perzistentne atipične simptome krupa i neučinkovitost farmakoterapije, dijete je u dobi od mjesec dana podvrgnuto endoskopskom pregledu dišnih putova. Vizualizirana je koncentrična subglotična stenoza membranskog tipa. U pripremama za liječenje endoskopskom laserskom ablacijom stridor je bivao sve manje izražen. Dva tjedna nakon prvog endoskopskog pregleda učinjen je kontrolni na kojem je vizualni nalaz sugerirao značajnu regresiju subglotičnog membranskog suženja. Odustalo se stoga od planirane intervencije laserom, a stridor se u dojenčeta spontano povukao. Zaključak: Iako je laringomalacija daleko najčešća etiološka podloga prirođenog stridora, i ne predstavlja apsolutnu indikaciju za endoskopijom dišnog puta, isti može biti izazvan nizom drugih rijetkih stanja uključujući prirođenu subglotičnu stenozu. U prikazanom slučaju zabilježena je neuobičajena spontana regresija subglotične stenoze membranskog tipa.Aim: To report an unusual clinical course of an infant with congenital laryngeal stridor. Indications for endoscopic examination of airways in such cases have also been discussed. Case report: A full-term male newborn was admitted to the Department of Paediatrics because of the symptoms of acute scrotum as well as because of breathing difficulties and severe hypoxemia. Soon after surgery the child was extubated but breathing difficulties persisted. A loud inspiratory stridor together with rapid respiratory deterioration occurred. The infant was intubated and underwent mechanical ventilation again. In the following period several trials of extubation were repeatedly unsuccessful despite favourable weaning parameters. Just few hours after each trial of extubation symptoms of acute laryngotracheobronchitis were apparent. Because of extubation failure, tube dependency and persistent atypical symptoms of croup unresponsive to standard pharmacotherapy, endoscopic assessment was performed at the age of one month. Concentric central membranous subglottic stenosis was visualized. While preparing for the endoscopic laser ablation treatment, stridor was getting less pronounced. Two weeks later patient underwent endoscopy again and significant regression of subglottic membrane narrowing was documented. Planned laser intervention was canceled. At the age of four months stridor disappeared. Conclusion: Laryngomalacia is the most common cause of congenital laryngeal stridor and endoscopic evaluation is usually not indicated in such cases. However, there are other causes of congenital stridor which are not so common, including congenital subglotttic stenosis. In this case an unusual spontaneous regression of congenital membranous subglottic stenosis was reported

GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF HEREDITARY ANGIOEDEMA

Hereditarni angioedem (HAE) rijetka je, ali potencijalno za život opasna bolest zbog nepredvidivih napadaja bezbolnih, ograničenih, recidivirajućih otoka supkutanog ili submukoznog, intersticijskog tkiva u trajanju od nekoliko sati do nekoliko dana. Oboljelih od HAE u RH ima oko 100 (ali vjerojatno ima više nedijagnosticiranih). Poseban kvalitativni napredak u usklađivanju dogovora o liječenju HAE jesu Smjernice Svjetske alergološke organizacije koje su donesene 2012. Oslanjajući se na taj dokument, Radna grupa hrvatskih stručnjaka pripremila je prijedlog smjernica za liječenje HAE u Hrvatskoj. Napadaji angioedema u HAE posljedica su mutacije gena za plazmatski protein inhibitor C1. Zbog manjka inhibitora ili njegove disfunkcionalnosti dolazi do okidačem (trigerom) potaknute autoaktivacije C1 i cijele kaskade s konačno povećanom propusnošću krvnih žila i edemom tkiva. Postoje tri tipa hereditarnog angioedema: tip I uzrokovan sniženom razinom C1inh proteina, tip II uzrokovan proizvodnjom nefunkcionalnog C1inh proteina te tip III karakteriziran normalnom funkcijom i razinom C1inh. U svih bolesnika sa sumnjom na HAE mora se odrediti nivo C4 i inhibitora C1, kao i funkcija inhibitora C1. Liječenje akutne atake HAE: Svi napadaji angioedema koji onesposobe dijelove tijela i/ili zahvaćaju lice, vrat, trbuh, a pogotovo gornje dišne putove zahtijevaju liječenje. Terapija mora biti odmah dostupna (On-Demand Treatment). U akutnoj ataci treba odmah primijeniti koncentrat inhibitora C1 (dobiven iz plazme ili rekombinantni), ikatibant ili ekalantid. Ako ovi lijekovi nisu dostupni, akutni napadaji edema mogu se liječiti plazmom obrađenom detergentom. Ako se ovakva plazma ne može dobiti, angioedemi se liječe svježe smrznutom plazmom. Intubacija ili traheotomija moraju se izvesti na vrijeme ako progredira edem gornjih dišnih putova. U napadaju angioedema bolesnik može dobiti i adjuvantnu terapiju (analgetike, infuzije). Preporučuje se da svi bolesnici uvijek nose sa sobom lijekove za samoprimjenu. Preporučljiva je kratkoročna profilaksa edema prije kirurških zahvata (osobito stomatoloških zahvata), zahvata u kojima je potrebna endotrahealna intubacija, zahvata na gornjim dišnim putovima ili farinksu te prije bronhoskopije i endoskopije. Dugoročna profilaksa indicirana je ako se javi jedna ili više težih ataka angioedema na mjesec. Kao dugoročna profilaksa mogu se rabiti koncentrat inhibitora C1 ili androgeni. Probir djece za HAE trebalo bi odgoditi do 12. mjeseca života. Sve potomke bolesnika treba testiratiHereditary angioedema (HAE) is a rare but potentially fatal genetic disorder with nonpitting, nonerythematous, and not pruritic swelling which can affect the hands, feet, face, genitals and visceral mucosa. The type, frequency, and severity of the attacks vary between patients, and over the lifetime of an individual patient. Efforts in Croatian counties have identified approximately 100 patients (but there must be more undiagnosed patients). The first global guideline for the management of HAE was developed by the World Allergy Organization HAE International Alliance and published in 2012. Based on that document the Working group of Croatian experts was assigned to propose guideline for HAE management in Croatia. HAE is is most often related to decreased or dysfunctional C1 inh with autoactivation of C1 and bradykinin accumulation leading to localized dilatation and increased permeability of blood vessels resulting in tissue swelling. A diagnosis of HAE can be confirmed by measuring complement and C1 inh quantitative and functional levels.Three HAE types could be differentiated: HAE type 1 (C1 inh level is low), HAE type 2 (C1 inh level is normal but dysfunctional), and HAE type 3 (normal level and function of C1 inh). All patients suspected to have HAE-1/2 should be assessed for blood levels of C4, C1 inh protein, and C1 inh function. All attacks that result in debilitation/dysfunction and/or involve the face, the neck, or the abdomen should be considered for on-demand treatment. It is recommended that attacks are treated as early as possible. HAE attacks are treated with C1 inh, ecallantide, or icatibant.If these drugs are not available, attacks should be treated with solvent detergent-treated plasma (SDP). If SDP is not available, then attacks should be treated with frozen plasma.Intubation or tracheotomy should be considered early in progressive upper airway edema. Patients with attacks could receive adjuvant therapy when indicated (pain management, intravenous fluids). All patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times. The administration of short-term prophylaxis should be considered before surgeries (dental/intraoral surgery, where endotracheal intubation is required), where upper airway or pharynx is manipulated, and before bronchoscopy or endoscopy. Long-term prophylaxis should be considered in all severely symptomatic HAE-1/2 patients. C1 inh concentrate or androgens can be used. Screening children for HAE-1/2 should be deferred until the age of 12 months, and all offspring of an affected parent should be tested

Smjernice za dijagnostiku i liječenje hereditarnog angioedema [Guidelines for the diagnosis and treatment of hereditary angioedema]

Hereditary angioedema (HAE) is a rare but potentially fatal genetic disorder with nonpitting, nonerythematous, and not pruritic swelling which can affect the hands, feet, face, genitals and visceral mucosa. The type, frequency, and severity of the attacks vary between patients, and over the lifetime of an individual patient. Efforts in Croatian counties have identified approximately 100 patients (but there must be more undiagnosed patients). The first global guideline for the management of HAE was developed by the World Allergy Organization HAE International Alliance and published in 2012. Based on that document the Working group of Croatian experts was assigned to propose guideline for HAE management in Croatia. HAE is is most often related to decreased or dysfunctional C1 inh with autoactivation of C1 and bradykinin accumulation leading to localized dilatation and increased permeability of blood vessels resulting in tissue swelling. A diagnosis of HAE can be confirmed by measuring complement and C1 inh quantitative and functional levels.Three HAE types could be differentiated: HAE type 1 (C1 inh level is low), HAE type 2 (C1 inh level is normal but dysfunctional), and HAE type 3 (normal level and function of C1 inh). All patients suspected to have HAE-1/2 should be assessed for blood levels of C4, C1 inh protein, and C1 inh function. All attacks that result in debilitation/dysfunction and/or involve the face, the neck, or the abdomen should be considered for on-demand treatment. It is recommended that attacks are treated as early as possible. HAE attacks are treated with C1 inh, ecallantide, or icatibant.If these drugs are not available, attacks should be treated with solvent detergent-treated plasma (SDP). If SDP is not available, then attacks should be treated with frozen plasma.Intubation or tracheotomy should be considered early in progressive upper airway edema. Patients with attacks could receive adjuvant therapy when indicated (pain management, intravenous fluids). All patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times. The administration of short-term prophylaxis should be considered before surgeries (dental/intraoral surgery, where endotracheal intubation is required), where upper airway or pharynx is manipulated, and before bronchoscopy or endoscopy. Long-term prophylaxis should be considered in all severely symptomatic HAE-1/2 patients. C1 inh concentrate or androgens can be used. Screening children for HAE-1/2 should be deferred until the age of 12 months, and all offspring of an affected parent should be tested

GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF HEREDITARY ANGIOEDEMA

Hereditarni angioedem (HAE) rijetka je, ali potencijalno za život opasna bolest zbog nepredvidivih napadaja bezbolnih, ograničenih, recidivirajućih otoka supkutanog ili submukoznog, intersticijskog tkiva u trajanju od nekoliko sati do nekoliko dana. Oboljelih od HAE u RH ima oko 100 (ali vjerojatno ima više nedijagnosticiranih). Poseban kvalitativni napredak u usklađivanju dogovora o liječenju HAE jesu Smjernice Svjetske alergološke organizacije koje su donesene 2012. Oslanjajući se na taj dokument, Radna grupa hrvatskih stručnjaka pripremila je prijedlog smjernica za liječenje HAE u Hrvatskoj. Napadaji angioedema u HAE posljedica su mutacije gena za plazmatski protein inhibitor C1. Zbog manjka inhibitora ili njegove disfunkcionalnosti dolazi do okidačem (trigerom) potaknute autoaktivacije C1 i cijele kaskade s konačno povećanom propusnošću krvnih žila i edemom tkiva. Postoje tri tipa hereditarnog angioedema: tip I uzrokovan sniženom razinom C1inh proteina, tip II uzrokovan proizvodnjom nefunkcionalnog C1inh proteina te tip III karakteriziran normalnom funkcijom i razinom C1inh. U svih bolesnika sa sumnjom na HAE mora se odrediti nivo C4 i inhibitora C1, kao i funkcija inhibitora C1. Liječenje akutne atake HAE: Svi napadaji angioedema koji onesposobe dijelove tijela i/ili zahvaćaju lice, vrat, trbuh, a pogotovo gornje dišne putove zahtijevaju liječenje. Terapija mora biti odmah dostupna (On-Demand Treatment). U akutnoj ataci treba odmah primijeniti koncentrat inhibitora C1 (dobiven iz plazme ili rekombinantni), ikatibant ili ekalantid. Ako ovi lijekovi nisu dostupni, akutni napadaji edema mogu se liječiti plazmom obrađenom detergentom. Ako se ovakva plazma ne može dobiti, angioedemi se liječe svježe smrznutom plazmom. Intubacija ili traheotomija moraju se izvesti na vrijeme ako progredira edem gornjih dišnih putova. U napadaju angioedema bolesnik može dobiti i adjuvantnu terapiju (analgetike, infuzije). Preporučuje se da svi bolesnici uvijek nose sa sobom lijekove za samoprimjenu. Preporučljiva je kratkoročna profilaksa edema prije kirurških zahvata (osobito stomatoloških zahvata), zahvata u kojima je potrebna endotrahealna intubacija, zahvata na gornjim dišnim putovima ili farinksu te prije bronhoskopije i endoskopije. Dugoročna profilaksa indicirana je ako se javi jedna ili više težih ataka angioedema na mjesec. Kao dugoročna profilaksa mogu se rabiti koncentrat inhibitora C1 ili androgeni. Probir djece za HAE trebalo bi odgoditi do 12. mjeseca života. Sve potomke bolesnika treba testiratiHereditary angioedema (HAE) is a rare but potentially fatal genetic disorder with nonpitting, nonerythematous, and not pruritic swelling which can affect the hands, feet, face, genitals and visceral mucosa. The type, frequency, and severity of the attacks vary between patients, and over the lifetime of an individual patient. Efforts in Croatian counties have identified approximately 100 patients (but there must be more undiagnosed patients). The first global guideline for the management of HAE was developed by the World Allergy Organization HAE International Alliance and published in 2012. Based on that document the Working group of Croatian experts was assigned to propose guideline for HAE management in Croatia. HAE is is most often related to decreased or dysfunctional C1 inh with autoactivation of C1 and bradykinin accumulation leading to localized dilatation and increased permeability of blood vessels resulting in tissue swelling. A diagnosis of HAE can be confirmed by measuring complement and C1 inh quantitative and functional levels.Three HAE types could be differentiated: HAE type 1 (C1 inh level is low), HAE type 2 (C1 inh level is normal but dysfunctional), and HAE type 3 (normal level and function of C1 inh). All patients suspected to have HAE-1/2 should be assessed for blood levels of C4, C1 inh protein, and C1 inh function. All attacks that result in debilitation/dysfunction and/or involve the face, the neck, or the abdomen should be considered for on-demand treatment. It is recommended that attacks are treated as early as possible. HAE attacks are treated with C1 inh, ecallantide, or icatibant.If these drugs are not available, attacks should be treated with solvent detergent-treated plasma (SDP). If SDP is not available, then attacks should be treated with frozen plasma.Intubation or tracheotomy should be considered early in progressive upper airway edema. Patients with attacks could receive adjuvant therapy when indicated (pain management, intravenous fluids). All patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times. The administration of short-term prophylaxis should be considered before surgeries (dental/intraoral surgery, where endotracheal intubation is required), where upper airway or pharynx is manipulated, and before bronchoscopy or endoscopy. Long-term prophylaxis should be considered in all severely symptomatic HAE-1/2 patients. C1 inh concentrate or androgens can be used. Screening children for HAE-1/2 should be deferred until the age of 12 months, and all offspring of an affected parent should be tested

GUIDELINES FOR THE DIAGNOSIS AND TREATMENT OF HEREDITARY ANGIOEDEMA

Hereditarni angioedem (HAE) rijetka je, ali potencijalno za život opasna bolest zbog nepredvidivih napadaja bezbolnih, ograničenih, recidivirajućih otoka supkutanog ili submukoznog, intersticijskog tkiva u trajanju od nekoliko sati do nekoliko dana. Oboljelih od HAE u RH ima oko 100 (ali vjerojatno ima više nedijagnosticiranih). Poseban kvalitativni napredak u usklađivanju dogovora o liječenju HAE jesu Smjernice Svjetske alergološke organizacije koje su donesene 2012. Oslanjajući se na taj dokument, Radna grupa hrvatskih stručnjaka pripremila je prijedlog smjernica za liječenje HAE u Hrvatskoj. Napadaji angioedema u HAE posljedica su mutacije gena za plazmatski protein inhibitor C1. Zbog manjka inhibitora ili njegove disfunkcionalnosti dolazi do okidačem (trigerom) potaknute autoaktivacije C1 i cijele kaskade s konačno povećanom propusnošću krvnih žila i edemom tkiva. Postoje tri tipa hereditarnog angioedema: tip I uzrokovan sniženom razinom C1inh proteina, tip II uzrokovan proizvodnjom nefunkcionalnog C1inh proteina te tip III karakteriziran normalnom funkcijom i razinom C1inh. U svih bolesnika sa sumnjom na HAE mora se odrediti nivo C4 i inhibitora C1, kao i funkcija inhibitora C1. Liječenje akutne atake HAE: Svi napadaji angioedema koji onesposobe dijelove tijela i/ili zahvaćaju lice, vrat, trbuh, a pogotovo gornje dišne putove zahtijevaju liječenje. Terapija mora biti odmah dostupna (On-Demand Treatment). U akutnoj ataci treba odmah primijeniti koncentrat inhibitora C1 (dobiven iz plazme ili rekombinantni), ikatibant ili ekalantid. Ako ovi lijekovi nisu dostupni, akutni napadaji edema mogu se liječiti plazmom obrađenom detergentom. Ako se ovakva plazma ne može dobiti, angioedemi se liječe svježe smrznutom plazmom. Intubacija ili traheotomija moraju se izvesti na vrijeme ako progredira edem gornjih dišnih putova. U napadaju angioedema bolesnik može dobiti i adjuvantnu terapiju (analgetike, infuzije). Preporučuje se da svi bolesnici uvijek nose sa sobom lijekove za samoprimjenu. Preporučljiva je kratkoročna profilaksa edema prije kirurških zahvata (osobito stomatoloških zahvata), zahvata u kojima je potrebna endotrahealna intubacija, zahvata na gornjim dišnim putovima ili farinksu te prije bronhoskopije i endoskopije. Dugoročna profilaksa indicirana je ako se javi jedna ili više težih ataka angioedema na mjesec. Kao dugoročna profilaksa mogu se rabiti koncentrat inhibitora C1 ili androgeni. Probir djece za HAE trebalo bi odgoditi do 12. mjeseca života. Sve potomke bolesnika treba testiratiHereditary angioedema (HAE) is a rare but potentially fatal genetic disorder with nonpitting, nonerythematous, and not pruritic swelling which can affect the hands, feet, face, genitals and visceral mucosa. The type, frequency, and severity of the attacks vary between patients, and over the lifetime of an individual patient. Efforts in Croatian counties have identified approximately 100 patients (but there must be more undiagnosed patients). The first global guideline for the management of HAE was developed by the World Allergy Organization HAE International Alliance and published in 2012. Based on that document the Working group of Croatian experts was assigned to propose guideline for HAE management in Croatia. HAE is is most often related to decreased or dysfunctional C1 inh with autoactivation of C1 and bradykinin accumulation leading to localized dilatation and increased permeability of blood vessels resulting in tissue swelling. A diagnosis of HAE can be confirmed by measuring complement and C1 inh quantitative and functional levels.Three HAE types could be differentiated: HAE type 1 (C1 inh level is low), HAE type 2 (C1 inh level is normal but dysfunctional), and HAE type 3 (normal level and function of C1 inh). All patients suspected to have HAE-1/2 should be assessed for blood levels of C4, C1 inh protein, and C1 inh function. All attacks that result in debilitation/dysfunction and/or involve the face, the neck, or the abdomen should be considered for on-demand treatment. It is recommended that attacks are treated as early as possible. HAE attacks are treated with C1 inh, ecallantide, or icatibant.If these drugs are not available, attacks should be treated with solvent detergent-treated plasma (SDP). If SDP is not available, then attacks should be treated with frozen plasma.Intubation or tracheotomy should be considered early in progressive upper airway edema. Patients with attacks could receive adjuvant therapy when indicated (pain management, intravenous fluids). All patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times. The administration of short-term prophylaxis should be considered before surgeries (dental/intraoral surgery, where endotracheal intubation is required), where upper airway or pharynx is manipulated, and before bronchoscopy or endoscopy. Long-term prophylaxis should be considered in all severely symptomatic HAE-1/2 patients. C1 inh concentrate or androgens can be used. Screening children for HAE-1/2 should be deferred until the age of 12 months, and all offspring of an affected parent should be tested