Obwodzenie – Epidemiologia

Obwodzenie
Epidemiologia

Obrzęk naczynioruchowy (ON) to schorzenie charakteryzujące się przejściowym, ograniczonym obrzękiem tkanek podskórnych, podśluzówkowych lub błon śluzowych, spowodowanym wzrostem przepuszczalności naczyń. Epidemiologia wskazuje, że ON dotyka do 7,4% populacji w ciągu życia, z około 0,5% przypadków przewlekłych lub nawracających. Dziedziczny obrzęk naczynioruchowy (HAE), spowodowany niedoborem funkcjonalnego inhibitora C1 (C1-INH), występuje u około 1 na 50 000 osób, z typem 1 stanowiącym 80-85% przypadków, a typem 2 – 15-20%. ON wywołany przez inhibitory ACE występuje u 0,1-6% leczonych pacjentów, z wyższym ryzykiem u Afroamerykanów (4-krotnie większe). Nabyty obrzęk naczynioruchowy (AAE) z niedoborem C1-INH jest rzadki, z częstością 0,15 na 100 000. Opóźnienia diagnostyczne w HAE są znaczące, sięgając od 3,9 do 26 lat, co prowadzi do zwiększonej zachorowalności i śmiertelności, zwłaszcza z powodu ataków krtaniowych. Wskaźnik hospitalizacji z powodu ON rośnie o 3,0% rocznie, a śmiertelność związana z HAE wynosi około 8,6%, głównie z powodu uduszenia.

Epidemiologia obrzęku naczynioruchowego (obwodzenia)

Rozpowszechnienie ogólne obrzęku naczynioruchowego
Częstość występowania dziedzicznego obrzęku naczynioruchowego
Obrzęk naczynioruchowy wywołany przez inhibitory ACE
Nabyty obrzęk naczynioruchowy
Zachorowalność i umieralność

Opóźnienia w diagnozie i wpływ na jakość życia

Wpływ na jakość życia i obciążenie ekonomiczne

Epidemiologia w różnych populacjach i regionach

Różnice związane z płcią i wiekiem

Wyzwania w nadzorze epidemiologicznym

Znaczenie czasowej diagnozy i właściwego leczenia
Dalsze badania i potrzeby niezaspokojone
Kolejne rozdziały

Epidemiologia obrzęku naczynioruchowego (obwodzenia)

Obrzęk naczynioruchowy (obwodzenie) jest schorzeniem charakteryzującym się przejściowym, ograniczonym obrzękiem tkanek podskórnych, podśluzówkowych lub błon śluzowych, powodowanym przez tymczasowy zlokalizowany wzrost przepuszczalności naczyń. Dane epidemiologiczne dotyczące tego schorzenia są ograniczone, chociaż wiadomo, że dotyka ono zarówno dorosłych, jak i dzieci i nie jest rzadkim zaburzeniem¹.

Rozpowszechnienie ogólne obrzęku naczynioruchowego

Według Światowej Organizacji Alergii (WAO), pokrzywka i obrzęk naczynioruchowy dotykają do 20% populacji. Szacuje się, że około 10-20% populacji może doświadczyć przynajmniej jednego epizodu obrzęku naczynioruchowego w ciągu życia¹. W danych z populacyjnego badania duńskiego odnotowano, że częstość występowania obrzęku naczynioruchowego wynosi 7,4% w ciągu życia (dane samodzielnie zgłaszane)¹. Szacuje się, że około 0,5% populacji ma przewlekły lub nawracający obrzęk naczynioruchowy².

Wskaźniki występowania na całym świecie uważa się za podobne do tych zgłaszanych w Stanach Zjednoczonych. Obrzęk naczynioruchowy może wpływać na osoby w każdym wieku. Obserwuje się ciągły wzrost liczby przyjęć do szpitala z powodu obrzęku naczynioruchowego (3,0% rocznie), przy czym wskaźnik hospitalizacji jest najwyższy u osób w wieku 65 lat i starszych¹.

W retrospektywnym przeglądzie wszystkich hospitalizacji w stanie Nowy Jork przez 13 lat, obrzęk naczynioruchowy był drugą co do częstości „alergiczną” chorobą wymagającą hospitalizacji, ustępując jedynie astmie. W tym badaniu liczba hospitalizacji z powodu obrzęku naczynioruchowego na rok więcej niż podwoiła się w okresie badania, co sugeruje, że częstość występowania może wzrastać¹. Afroamerykanie byli nieproporcjonalnie dotknięci, ponieważ stanowili 42% przyjęć z powodu obrzęku naczynioruchowego, ale tylko 16% populacji stanu¹².

Częstość występowania dziedzicznego obrzęku naczynioruchowego

Dziedziczny obrzęk naczynioruchowy (HAE) jest rzadkim zaburzeniem autosomalnym dominującym, spowodowanym niedoborem funkcjonalnego inhibitora C1, który dotyka szacunkowo 1 na 50 000 osób w Stanach Zjednoczonych¹. Choroba ta charakteryzuje się nawracającymi epizodami obrzęku naczynioruchowego, bez pokrzywki lub świądu, które najczęściej dotykają skórę lub tkanki śluzowe górnych dróg oddechowych i przewodu pokarmowego¹.

Szacunki dotyczące częstości występowania HAE różnią się znacznie w zależności od regionu, od 1:10 000 do 1:150 000¹²³⁴. W systematycznym przeglądzie badań epidemiologicznych, częstość występowania HAE z niedoborem inhibitora C1 (C1-INH) oszacowano na 1,1 do 1,6 przypadków na 100 000¹². HAE typu 1 występuje u 80% do 85% pacjentów z HAE, a typu 2 u pozostałych 15% do 20%¹².

Według raportu epidemiologicznego z analizy 7 głównych rynków (7MM), całkowita zdiagnozowana populacja HAE w 2017 roku wynosiła 14 435 przypadków. Stany Zjednoczone miały najwyższą chorobowość HAE z 6 566 przypadkami, a wśród krajów UE5, Francja miała najwyższą chorobowość – 1 346 przypadków¹.

Typ 3 HAE (HAE z normalnym C1-INH) początkowo uważano za występujący wyłącznie u kobiet, ale badania rodzinne opisały również przypadki u mężczyzn. Niemniej jednak, HAE z normalnym poziomem inhibitora C1 nadal uważa się za chorobę występującą głównie u kobiet¹².

Obrzęk naczynioruchowy wywołany przez inhibitory ACE

Zgłaszana częstość występowania obrzęku naczynioruchowego wywołanego przez inhibitory ACE waha się od 0,1% do 6%¹. Częstość występowania obrzęku naczynioruchowego związanego z inhibitorami ACE u osób czarnoskórych jest nawet czterokrotnie wyższa niż u osób białych¹². Roczna skumulowana częstość występowania obrzęku naczynioruchowego wywołanego przez inhibitory ACE oszacowano na wartość od 0,12 (analizy populacyjne) do 0,30 (meta-analizy badań klinicznych) na 100 pacjento-lat¹.

Częstość występowania obrzęku naczynioruchowego wywołanego przez inhibitory ACE w populacji modelowano na wartości między 7 a 26 na 100 000¹². Odsetek ten zależy od specyficznego dla danego kraju stosowania leków przeciwnadciśnieniowych. W USA oszacowano, że waha się on między 0,7 a 1,7 na 10 000 mieszkańców przy uwzględnieniu ryzyka obrzęku naczynioruchowego wywołanego przez inhibitory ACE wśród osób rasy kaukaskiej i Afroamerykanów. W Niemczech oszacowano, że waha się on między 1,0 a 2,6 na 10 000, podczas gdy we Francji oszacowano, że jest niższy i waha się między 0,4 a 1,0 na 10 000¹².

Nabyty obrzęk naczynioruchowy

Częstość występowania nabytego obrzęku naczynioruchowego (AAE) z niedoborem C1-INH oszacowano na 0,15 na 100 000 w jednym badaniu epidemiologicznym AAE w Danii¹². Częstość występowania AAE jest bardzo niska; do 2006 roku w literaturze opisano tylko około 136 przypadków¹.

Zachorowalność i umieralność

W populacyjnym badaniu obrzęku naczynioruchowego w Korei odnotowano, że częstość występowania obrzęku naczynioruchowego w ciągu 5 lat wynosiła 0,027%. Wyższy odsetek kobiet niż mężczyzn (59% vs 41%) był dotknięty, a pacjenci w grupie wiekowej 30-49 lat byli najczęściej dotknięci. Roczna częstość występowania obrzęku naczynioruchowego wzrosła z 0,021% do 0,033% w ciągu 5 lat¹.

W australijskim badaniu analizującym przyjęcia do szpitala i zgony związane z obrzękiem naczynioruchowym w latach 2000-2013, odnotowano 18 722 hospitalizacji z powodu obrzęku naczynioruchowego w ciągu 14 lat, a roczna liczba wzrosła w okresie badania (o 1,2% rocznie). Australian Bureau of Statistics odnotowało 26 zgonów związanych z obrzękiem naczynioruchowym w ciągu 8 lat, wszystkie u pacjentów powyżej 50. roku życia; 69% stanowiły kobiety¹.

Szacowane ryzyko zgonu z powodu uduszenia u pacjentów z HAE wynosi 8,6%¹. Ataki krtaniowe mogą być śmiertelne, jeśli nie zostaną szybko i odpowiednio leczone¹. Brytyjski audyt z 2013 roku, obejmujący 376 pacjentów w Anglii, Walii i Szkocji, zidentyfikowanych jako mających dziedziczny lub nabyty obrzęk naczynioruchowy (z których 91% miało HAE typu I lub II), odnotował historię rodzinną 55 zgonów w 33 rodzinach, od jednego do trzech zgonów na rodzinę¹.

Opóźnienia w diagnozie i wpływ na jakość życia

Jednym z głównych problemów w epidemiologii obrzęku naczynioruchowego, szczególnie HAE, są znaczne opóźnienia w diagnostyce. Opóźnienie w diagnozie zostało zgłoszone przez 34 badania, przy czym średni lub mediana zakresu wynosiły od 3,9 do 26 lat od pierwszego wystąpienia objawów HAE do potwierdzonej diagnozy¹.

Nawet w dzisiejszych czasach większość lekarzy amerykańskich szacuje, że większość pacjentów doświadcza objawów średnio przez 7 lat przed postawieniem ostatecznej diagnozy¹. Inni badacze odnotowali, że opóźnienie diagnostyczne typowo wynosi 10-12 lat od początku objawów¹. W badaniu Banerji i współpracowników stwierdzono, że prawie połowa pacjentów z C1-INH-HAE (47,1%) i 56,7% pacjentów z nC1-INH-HAE nie otrzymało prawidłowej diagnozy aż do ponad 10 lat po pierwszych objawach HAE¹.

Opóźnienia w diagnozowaniu HAE są trwałym problemem z poważnymi konsekwencjami¹. Długie opóźnienia w diagnozie w połączeniu z możliwością błędnej diagnozy i ogólnym brakiem rozpoznania choroby oznaczają, że rzeczywista częstość występowania może być wyższa niż sugerują szacunki¹.

Niepotrzebna operacja brzuszna nie była rzadkością u pacjentów z niezdiagnozowanym HAE, szczególnie jeśli silny ból brzucha był objawem prezentującym lub dominującym¹. W badaniu online przeprowadzonym wśród 63 pacjentów z HAE w 2004 roku stwierdzono, że pacjenci średnio odwiedzali SOR 4,7 razy każdego roku; prawie 21% otrzymało leczenie z powodu anafilaksji na SOR¹.

Wpływ na jakość życia i obciążenie ekonomiczne

HAE powoduje ogromne obciążenie humanistyczne dla pacjentów, wpływając zarówno na zdrowie fizyczne, jak i psychiczne, z negatywnym wpływem na edukację, karierę i wydajność pracy, oraz ze znacznymi obciążeniami ekonomicznymi¹².

Nieprzewidywalność ataków obrzęku naczynioruchowego, wysokie ryzyko uduszenia i konieczność interwencji w nagłych wypadkach często powodują znaczne obciążenie dla pacjentów z C1-INH-HAE¹. Badanie jakości życia (QoL) zostało zgłoszone w 23 publikacjach. Średnie ogólne wyniki podsumowujące dla fizycznego komponentu podsumowującego (PCS) w badaniu SF-36 wahały się od 40,9 do 49,8, a dla psychicznego komponentu podsumowującego (MCS) wahały się od 41,6 do 50,4¹.

W badaniu Banerji i współpracowników przeprowadzonym wśród 186 pacjentów z zdiagnozowanym HAE stwierdzono, że 72% pacjentów z HAE typu I lub II i 76% z HAE typu III zgłosiło, że HAE miało znaczący wpływ na jakość ich życia¹.

Główne składniki odpowiadające za wzrost kosztów ekonomicznych to hospitalizacje, leczenie, niepotrzebne operacje, wizyty lekarskie, usługi specjalistyczne i koszty pielęgniarskie¹. Koszty pośrednie wynikały głównie z nieobecności w pracy (3402 USD rocznie) i utraty produktywności (5750 USD rocznie)¹.

Epidemiologia w różnych populacjach i regionach

Dowody epidemiologiczne dotyczące bradykinino-zależnego obrzęku naczynioruchowego są ograniczone do Ameryki Północnej i Europy¹². Obrzęk naczynioruchowy wywołany przez inhibitory ACE jest częstszy niż HAE z niedoborem C1-INH (~10:1), który jest częstszy niż nabyty obrzęk naczynioruchowy z niedoborem C1-INH (~10:1)¹².

Wydaje się, że epidemiologia HAE z niedoborem C1-INH jest stabilna w regionach geograficznych objętych tym przeglądem. Może to być wynikiem stabilnej mieszanki spontanicznych mutacji i wzorców dziedziczenia¹².

Różnice związane z płcią i wiekiem

Przewlekły idiopatyczny obrzęk naczynioruchowy jest częstszy u kobiet niż u mężczyzn¹. Osoby dowolnej rasy mogą być dotknięte HAE, bez zgłaszanego uprzedzenia w różnych grupach etnicznych. Mężczyźni i kobiety są w równym stopniu dotknięci HAE typu I i II, chociaż kobiety mają tendencję do cięższych ataków¹.

Niedobór C1-INH jest obecny przy urodzeniu w HAE, chociaż tylko kilku pacjentów zgłoszono z okołoporodowym obrzękiem naczynioruchowym. Objawy zwykle stają się widoczne w pierwszej lub drugiej dekadzie życia. Około 40% osób z HAE doświadcza swojego pierwszego epizodu przed 5. rokiem życia, a 75% przedstawia się przed 15. rokiem życia. Pacjenci typowo doświadczają niewielkiego obrzęku w dzieciństwie, który może pozostać niezauważony, z zwiększoną ciężkością około okresu dojrzewania¹.

Jednakże HAE z normalnym poziomem inhibitora C1 występuje w drugiej dekadzie życia lub później i występuje tylko rzadko przed okresem dojrzewania¹. HAE to dożywotnia dolegliwość, chociaż niektórzy zgłaszają zmniejszenie objawów wraz z wiekiem. Pięć procent dorosłych nosicieli HAE jest bezobjawowych i są identyfikowani tylko wtedy, gdy ich dzieci okazują się być symptomatyczne¹.

Typ obrzęku naczynioruchowego	Częstość występowania	Najczęściej dotknięta populacja	Główne cechy
Obrzęk naczynioruchowy ogółem	7,4% w ciągu życia	Różnorodna, dotyka obu płci i wszystkich grup wiekowych	Około 50% przypadków staje się przewlekłymi
HAE typu 1	80-85% wszystkich przypadków HAE	Równa częstość u obu płci, początek w dzieciństwie/młodości	Niski poziom i funkcja C1-INH
HAE typu 2	15-20% wszystkich przypadków HAE	Równa częstość u obu płci, początek w dzieciństwie/młodości	Normalna ilość ale dysfunkcyjny C1-INH
HAE typu 3 (z normalnym C1-INH)	Bardzo rzadki, dokładne dane niedostępne	Przewaga u kobiet, początek po okresie dojrzewania	Normalny poziom i funkcja C1-INH
Obrzęk naczynioruchowy wywołany przez ACE-I	0,1-6% leczonych pacjentów	Wyższe ryzyko u Afroamerykanów (4x)	7-26 przypadków na 100,000 w populacji ogólnej
Nabyty obrzęk naczynioruchowy (AAE)	0,15 na 100,000	Początek zazwyczaj po 40. roku życia	~136 przypadków opisanych do 2006 roku

Wyzwania w nadzorze epidemiologicznym

Brak kompleksowych danych epidemiologicznych na temat częstości występowania HAE tworzy lukę w wiedzy dotyczącą prawdziwego ogólnego obciążenia HAE dla społeczeństwa¹. Rzeczywista częstość występowania HAE pozostaje niejasna, ponieważ choroba jest rzadka¹.

Z powodu rzadkości i nakładania się objawów z innymi stanami, HAE jest często niedostatecznie rozpoznawany, co prowadzi do opóźnionego rozpoznania¹. Historycznie, współczynnik śmiertelności był wyższy u niezdiagnozowanych pacjentów z HAE z powodu braku świadomości na temat potencjalnie śmiertelnych ataków krtaniowych i nieadekwatnego leczenia¹.

Diagnoza HAE stanowi wyzwanie z powodu jej rzadkości i braku świadomości i/lub możliwości diagnostycznych¹. Ze względu na brak świadomości, choroba często pozostaje niezdiagnozowana przez dłuższy czas. Istnieje natychmiastowa potrzeba zwiększenia świadomości klinicznej i dostępności zasobów laboratoryjnych, aby zmniejszyć opóźnienia diagnostyczne i poprawić ogólne wyniki¹.

Znaczenie czasowej diagnozy i właściwego leczenia

Szybka diagnoza jest kluczowa, ponieważ opóźnienia w diagnozie mogą prowadzić do śmiertelnych wyników¹. Istnienie lub brak diagnozy HAE ma istotny wpływ na progresję choroby: liczba hospitalizacji rocznie z powodu ciężkich ataków wynosiła 14,3 przed diagnozą i spadła do zaledwie 4,3 po diagnozie¹.

Terminowe i właściwe stosowanie leczenia specyficznego dla choroby może poprawić jakość życia pacjentów, zmniejszyć zachorowalność i śmiertelność specyficzną dla choroby, a co nie mniej ważne, zmniejszyć koszty związane z hospitalizacją i wizytami na oddziale ratunkowym¹².

Znaczące postępy poczyniono w ostatniej dekadzie w rozszerzaniu zarówno opcji leczenia ostrego, jak i profilaktycznego dla pacjentów z HAE, obniżając zarówno obciążenie chorobą i leczeniem, jak i poprawiając jakość życia pacjentów z HAE¹²³.

Dalsze badania i potrzeby niezaspokojone

Istnieje potrzeba przeprowadzenia większej liczby badań, aby kompleksowo ocenić epidemiologiczne obciążenie bradykinino-zależnym obrzękiem naczynioruchowym¹². Obrzęk naczynioruchowy wywołany przez inhibitory ACE może być obecnie niedostatecznie zdiagnozowany w niektórych populacjach¹.

Główny motyw nowoczesnego zarządzania HAE to poprawa jakości życia związanej ze zdrowiem osób dotkniętych i ich rodzin¹. Lepszy dostęp do skutecznego leczenia HAE, czy to z perspektywy ostrego leczenia, czy z naciskiem na długoterminową profilaktykę, jest jednym z kluczowych czynników, które mogą poprawić jakość życia osób dotkniętych¹.

Poznanie epidemiologii obrzęku naczynioruchowego może pomóc w optymalizacji jego leczenia¹². Ustanawianie i prowadzenie globalnych rejestrów dla wszystkich pacjentów z obrzękiem naczynioruchowym ma na celu zbieranie rzeczywistych danych z zamiarem poprawy wiedzy na temat przewlekłego obrzęku naczynioruchowego, między innymi dotyczących jego epidemiologii (np. częstości, czasu trwania, przebiegu choroby), leżących u podstaw przyczyn, chorób współistniejących, czynników wyzwalających, odpowiedzi na leczenie, kosztów i wpływu choroby, a także globalnej poprawy zrozumienia przewlekłego obrzęku naczynioruchowego i jego typów oraz podtypów¹.

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Materiały źródłowe

#1 An overview of angioedema: Pathogenesis and causes – UpToDate
https://www.uptodate.com/contents/an-overview-of-angioedema-pathogenesis-and-causes
Data regarding the epidemiology of angioedema are limited, although it affects both adults and children and is not a rare disorder. In a retrospective review of all hospital admissions in New York State over 13 years, angioedema was the second most common „allergic” disease to necessitate hospitalization, exceeded only by asthma. In this study, the number of angioedema hospitalizations per year more than doubled during the study period, suggesting that the prevalence may be increasing. […] African Americans were disproportionately affected as they accounted for 42 percent of the admissions for angioedema but only 16 percent of the state’s population. […] The epidemiology of specific forms of angioedema, such as hereditary angioedema (HAE) due to C1 inhibitor (C1INH) deficiency, is discussed separately.
#1 Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135208-overview
The reported incidence or prevalence of angioedema varies depends on the study population and the method of study (eg, patient reported vs physician diagnosed). The World Allergy Organization (WAO) notes that urticaria and angioedema affects up to 20% of the population. It is estimated that approximately 10-20% of population may experience at least 1 episode of angioedema during their lifetime. […] Approximately 40-50% of patients with chronic spontaneous urticaria have angioedema, and about 10% have angioedema alone. […] Up to 0.5% of the population is estimated to have chronic or recurrent angioedema. […] HAE has an estimated prevalence of 1:10,000 to 1:50,000. […] The prevalence of AAE is very low; until 2006, only about 136 cases had been reported in the literature. […] The reported incidence of ACE inhibitor-induced angioedema ranges from 0.1% to 6%.
#1 Epidemiology of Non-hereditary Angioedema | HTML | Acta Dermato-Venereologica
https://www.medicaljournals.se/acta/content/html/10.2340/00015555-1389
The prevalence of non-hereditary angioedema was investigated in a general population sample (n = 7,931) and in a sample of Danish patients (n = 7,433) tested for deficiency of functional complement C1 esterase inhibitor protein (functional C1 INH). The general population sample (44% response rate) reported a lifetime prevalence of 7.4% for angioedema. […] Non-hereditary angioedema has high lifetime prevalence and becomes chronic in approximately 50% of affected patients. […] The epidemiology of acute and chronic non-HAE in 2 large Danish populations is reported here. To our knowledge this is the first epidemiological study to focus on non-HAE. […] Few epidemiological studies have been published on non-HAE. […] Approximately one-third of patients in the C1 INH group reported symptoms located in the throat without a choking sensation and one-sixth in the C1 INH group reported symptoms located in the throat with a choking sensation. […] In conclusion, non-HAE angioedema is a common disease with a high lifetime prevalence of 7:100 compared with that of HAE (1.4:100,000) and a slightly increased mortality.
#1 Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135208-overview
International occurrence rates are believed to be similar to those reported in the United States. […] Angioedema can affect people of all ages. […] There is a continuous increase in the rate of hospital admissions for angioedema (3.0% per year). […] The rate of hospitalization is highest in persons aged 65 years and older. […] Chronic idiopathic angioedema is more common in females than in males. […] No specific racial predilection exists for angioedema. However, black individuals are more susceptible to angioedema induced by ACE inhibitors.
#1 Overview of Epidemiology, Pathophysiology, and Disease Progression in Hereditary Angioedema
https://www.ajmc.com/view/ace010_13jun_lumry1_s103to10
Hereditary angioedema (HAE) is an autosomal dominant disease caused by a deficiency in functional C1 inhibitor affecting an estimated 1 in 50,000 individuals in the United States. […] The condition is thought to affect anywhere between 1 in 10,000 and 1 in 150,000 individuals worldwide, but its rarity makes accurate prevalence estimations difficult. […] Long delays in diagnosis (averaging 13.1 years in the Spanish study) combined with the possibility of misdiagnosis and a general lack of disease recognition mean that the actual prevalence may be higher than estimates suggest. […] Despite advances in testing procedures and more disease recognition, the diagnosis of HAE still presents considerable challenges for physicians, particularly in the primary care setting. […] Delayed diagnosis of HAE has been a persistent problem with serious consequences.
#1 Hereditary angioedema (due to C1 inhibitor deficiency): Epidemiology, clinical manifestations, exacerbating factors, and prognosis – UpToDate
https://www.uptodate.com/contents/hereditary-angioedema-due-to-c1-inhibitor-deficiency-epidemiology-clinical-manifestations-exacerbating-factors-and-prognosis
Hereditary angioedema (HAE) is a disease characterized by recurrent episodes of angioedema, without urticaria or pruritus, which most often affect the skin or mucosal tissues of the upper respiratory and gastrointestinal tracts. […] The epidemiology, clinical manifestations, triggering and exacerbating factors, and prognosis of HAE are discussed in this topic review.
#1 Hereditary angioedema: epidemiology, management, and role of icatibant
https://pmc.ncbi.nlm.nih.gov/articles/PMC3647445/
The estimated prevalence of HAE is 1 in 50,000, with reported ranges from 1:10,000 to 1:150,000. HAE has been reported in all races and sexes. Type 1 is estimated to occur in 80% to 85% of HAE patients and type 2 in the remaining 15% to 20%. HAE can present as a cutaneous swelling in almost three-fourths of patients and as severe abdominal attacks in approximately one-fourth. Episodes of laryngeal edema are the least frequent, but are the primary cause of mortality in patients with HAE because they may progress to asphyxiation. The frequency of attacks in most symptomatic untreated patients ranges from weekly to less than a year. Each attack typically lasts for a few days before spontaneous resolution, thus it is estimated that the average patient with HAE has the potential to be debilitated by their symptoms for 20 to 100 days per year.
#1 Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0815-5
Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. […] We identified 4 relevant publications on the prevalence of ACEI-AE, 6 on the prevalence of C1-INH-HAE, and 1 on the prevalence of C1-INH-AAE. The 1st year cumulative incidence of ACEI-AE was estimated to vary between 0.12 (population-based analyses) and 0.30 (meta-analyses of clinical trials) per 100 patient-years. The population prevalence of ACEI-AE was modeled to vary between 7 and 26 in 100,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 0.15 per 100,000 in one epidemiological investigation of AAE in Denmark. […] Epidemiological evidence on Bk-AE is limited to North America and Europe. ACEI-AE is more common than C1-INH-HAE (~10:1), which is more common than C1-INH-AAE (~10:1). More studies are needed to comprehensively assess the epidemiological burden of Bk-AE.
#1 Hereditary Angioedema Epidemiology Forecasts to 2030 – ResearchAndMarkets.com
https://www.businesswire.com/news/home/20200714005671/en/Hereditary-Angioedema-Epidemiology-Forecasts-to-2030—ResearchAndMarkets.com
The epidemiology segment also provides the Hereditary Angioedema (HAE) epidemiology data and findings across the United States, EU5 (Germany, France, Italy, Spain, and the United Kingdom) and Japan. […] The total diagnosed prevalent population of Hereditary Angioedema Associated in 7MM countries estimated to be 14,435 cases in 2017. […] As per the estimates, the United States has the highest prevalent population of Hereditary Angioedema with 6,566 cases in 2017. […] Among the EU5 countries, France had the highest prevalent population of 1,346 cases, followed by the UK. […] Hereditary Angioedema (HAE) Epidemiology Report and Model provide an overview of the risk factors and global trends of Hereditary Angioedema (HAE) in the seven major markets (7MM: US, France, Germany, Italy, Spain, UK, and Japan).
#1 Hereditary Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135604-overview
Although urticaria and angioedema are common problems that affect nearly 20% of the population, hereditary angioedema (HAE) is a rare disorder. It accounts for approximately 2% of clinical angioedema cases and occurs in 1 per 50,000-150,000 population. HAE leads to 15,000-30,000 emergency department visits per year in the United States. […] Persons of any race can be affected by HAE, with no reported bias in different ethnic groups. Men and women are equally affected for HAE types I and II, although women tend to have more severe attacks. HAE with normal C1 inhibitor levels was initially thought to occur only in women, but family studies have described males with HAE and normal C1 inhibitor levels. Nevertheless, HAE with normal C1 inhibitor levels is still thought to predominantly affect women.
#1 Angioedema | 5-Minute Clinical Consult
https://im.unboundmedicine.com/medicine/view/5-Minute-Clinical-Consult/1688768/all/Angioedema
Predominant age of onset: AAE (1): IH-AAE, InH-AAE, ACEI-AAE: any age, C1-INH-AAE: age 40 years. […] HAE: infancy to 2nd decade of life. […] Predominant gender: male = female, except FXII-HAE which predominantly affects females. […] AAE: IH-AAE: most common form of AE. […] ACEI-AAE: 0.12.2% of patients receiving ACEI (1). […] The incidence of AE related to ACEI use in black individuals is as high as four times that of whites. […] C1-INH-AAE: 1:500,000 (1). […] HAE: C1-INH-HAE: 1:10,000 to 100,000 (1). […] C1-INH accounts for 85% of cases of HAE (2).
#1 Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0815-5
The prevalence of ACEI-AE is determined by the country-specific use of antihypertensive; in the US, the prevalence was estimated to vary between 0.7 and 1.7 per 10,000 inhabitants when weighting the risk of ACEI-AE among Caucasians and African-Americans. In Germany it was estimated to vary between 1.0 and 2.6 per 10,000 while in France it was estimated to be lower and vary between 0.4 and 1.0 in 10,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 1.5 per 1 Million from the one available epidemiological investigation of C1-INH-AAE in Denmark. […] Overall, the prevalence figures would be approximately 1.5 per 10,000 for ACEI-AEs, 1.5 per 100,000 for C1-INH-HAE and 1.5 per 1 Million for C1-INH-AAE. For every 100 patients with ACEI-AE there would be 10 patients with C1-INH-HAE and 1 patient with C1-INH-AAE.
#1 Epidemiology of urticaria including physical urticaria and angioedema in Korea
https://www.kjim.org/journal/view.php?number=170063
The prevalence of angioedema over 5 years was 0.027%. A higher proportion of females than males (59% vs. 41%) was affected, and patients in the 30- to 49-year age group were most commonly affected. […] The annual prevalence of angioedema increased from 0.021% to 0.033% over the 5 years. […] A total of 29 patients among 100,000 individuals sought medical care for angioedema over 5 years in Korea. Annual prevalence of angioedema also increased over 5 years.
#1 Angioedema in Australia: hospital admission rates and fatalities, 2000â2013 | The Medical Journal of Australia
https://www.mja.com.au/journal/2018/208/7/angioedema-australia-hospital-admission-rates-and-fatalities-2000-2013
Angioedema is the tissue swelling caused by increased vascular permeability elicited by histamine or bradykinin; it can be life-threatening when the upper airway is involved. […] We examined the burden of isolated angioedema in Australia, specifically excluding angioedema related to IgE-mediated allergy or anaphylaxis. […] Consistent with overseas reports, admissions to hospital for angioedema were relatively common (18 722 over 14 years), and the annual number increased across the study period (by 1.2% per year; 95% confidence interval [CI], 0.81.6% per year; P 0.001). […] The ABS recorded 26 angioedema-related deaths over 8 years, all of patients over 50 years of age; 69% were women. […] Unlike the United States, there was no significant change in the rate of angioedema-related deaths recorded by the ABS (median rate, 0.026 cases/100 000 population; annual change in rate, 4% [95% CI, 14.0% to 18.8%]; P = 0.64), although fatality rates in the two countries were similar.
#1 Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03265-z
This systematic study aims to assess the global epidemiologic, economic, and humanistic burden of illness associated with all types of hereditary angioedema. […] In total, 65 articles that met the search inclusion criteria reported 10,310 patients with HAE, of whom 5861 were female patients. […] The overall prevalence of all types of HAE was between 0.13 and 1.6 cases per 100,000. […] The estimated risk of death from asphyxiation was 8.6% for patients with HAE. […] The delay in diagnosis was reported by 34 studies with the mean or median range of 3.9 to 26 years from the first onset of HAE symptoms to the confirmed diagnosis. […] The prevalence of HAE is estimated at 1:50,000, the true prevalence of HAE remains unclear because the disease is rare. […] HAE accounts for approximately 2% of clinical angioedema cases.
#1 Hereditary angioedema: Epidemiology and burden of disease. | EBSCOhost
https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=10885412&AN=146700572&h=6eoLj40woN%2BU%2FeFmW%2BZ30OLp%2FE2jiKyKc4spKmUm2t6MD0IDyhzj3uiVj2uosv6JaunG0Ip6FWBhtj83m9Xt%2Fw%3D%3D&crl=c
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by swelling of subcutaneous, mucosal, and submucosal tissue without associated pruritus or wheals caused by a temporary localized increase in vascular permeability. Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. The prevalence of HAE normal C1-INH is unknown but is likely much lower than HAE C1-INH. Approximately one-third of patients with recurrent angioedema without wheals have HAE. The burden of disease for patients with HAE is substantial. Attacks are unpredictable with respect to frequency, severity, and the site that swells. Laryngeal attacks can be fatal if not treated promptly and appropriately. […] Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE.
#1 Hereditary Angio-oedema | Doctor
https://patient.info/doctor/hereditary-angio-oedema
The incidence is approximately 1 in 50,000 although there may be variation geographically. It can affect people of any ethnic group or gender. Usually it presents in childhood, with the mean age of onset being between 8 and 12 years. […] A 2013 UK audit of the 376 patients in England, Wales and Scotland, identified to have hereditary or acquired angioedema (of whom 91% had type I or II HAE), reported a family history of 55 deaths in 33 families, ranging from one to three deaths per family.
#1 Overview of Epidemiology, Pathophysiology, and Disease Progression in Hereditary Angioedema
https://www.ajmc.com/view/ace010_13jun_lumry1_s103to10
Even today, however, the majority of US physicians estimate that most patients experience symptoms for an average of 7 years before a definitive diagnosis is made. […] An online survey of 63 patients with HAE conducted in 2004 found that patients averaged 4.7 emergency department (ED) visits each year; nearly 21% received treatment for anaphylaxis in the ED. […] Unnecessary abdominal surgery was not uncommon in patients with undiagnosed HAE, particularly if severe abdominal pain was the presenting or predominant symptom.
#1
https://journals.lww.com/aora/fulltext/2024/04010/hereditary_angioedema__a_rare_case_report_and.6.aspx
Hereditary angioedema (HAE) is a rare disorder due to either deficiency or dysfunction of Complement 1 (C1) esterase inhibitor (C1-INH). […] The estimated prevalence varies widely by region, from 1:50,000 to 1:100,000 population. […] Undiagnosed cases have shown a mortality rate of 30%40%, with upper airway obstruction due to laryngeal edema being the primary cause of death. […] The diagnosis of HAE is challenging due to its uncommonness and lack of awareness and/or diagnostic facilities. […] HAE should be considered in individuals experiencing the early onset of repeated AE without urticaria, particularly if there is a positive family history, recurrent abdominal pain, upper airway edema, and a lack of response to antihistamines, glucocorticoids, or epinephrine. […] There is a significant delay in diagnosing HAE, typically spanning 1012 years from symptom onset.
#1
https://link.springer.com/article/10.1007/s40629-022-00223-8
With reference to the recommendations of the updated WAO/EAACI guidelines (2022), we argue for a stronger role for long-term prophylaxis and the promotion of modern, patient-centered management of HAE using patient-reported outcome measures (PROMs) to manage quality of life and the burden of the disease. […] The prevalence of HAE was estimated to be between 1.1 and 1.6 cases per 100,000 people based on North American and European data. […] The swellings do not respond to antihistamines or corticosteroids, which are typically used for allergic angioedema. […] Delays in getting a specific diagnosis and effective treatment present a massive problem for HAE patients. […] In a patient survey, Banerji et al. established that nearly half of patients with C1-INH-HAE (47.1%) and 56.7% of patients with nC1-INH-HAE did not receive a correct diagnosis until more than 10 years after their first HAE symptoms.
#1 Hereditary angioedema: epidemiology, management, and role of icatibant
https://pmc.ncbi.nlm.nih.gov/articles/PMC3647445/
HAE has been reported to result in enormous humanistic burden to patients, affecting both physical and mental health, with a negative impact on education, career, and work productivity, and with substantial economic burdens. The timely and proper use of disease-specific treatments could improve patients quality of life, reduce the disease-specific morbidity and mortality, and, last but not least, reduce costs associated with hospitalizations and emergency room visits.
#1 Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03265-z
The prevalence of type 1 HAE is observed in the majority of patients (80%-85%), whereas type 2 HAE is present in 15% to 20% of patients. […] An analysis reported that HAE-nC1-INH is exclusive to women and postulated it to be related to X-linked dominant mode of inheritance. […] The unpredictability of angioedema attacks, high risk of asphyxia, and the need for emergency intervention often result in a significant burden for patients with C1-INH-HAE. […] The burden of all types of HAE with respect to epidemiology was reported in 39 articles, whereas the economic burden and humanistic burden of the disease were reported in 16 and 23 articles, respectively. […] The major components accounting for the increase in economic costs were hospitalization, treatments, unnecessary surgeries, doctors visits, specialist services, and nurse costs.
#1 Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03265-z
The indirect cost accounted mostly due to missing work ($3402/year) and loss of productivity ($5750/year). […] The quality of life (QoL) was reported in a total of 23 publications. […] The mean overall summary scores for the physical component summary (PCS) in the SF-36 survey ranged from 40.9 to 49.8 and for the mental component summary (MCS) ranged from 41.6 to 50.4. […] Evidence from this review illustrates the negative impact of HAE on the QoL. […] The lack of comprehensive epidemiologic data on the incidence of HAE creates a knowledge gap regarding the true overall burden of HAE on society.
#1 Severity of Hereditary Angioedema, Prevalence, and Diagnostic Considerations
https://www.ajmc.com/view/severity-of-hae-prevalence-and-diagnostic-considerations
Hereditary angioedema (HAE) is a rare disorder, characterized by intermittent attacks of swelling in any part of the body, without the presence of hives. […] Hereditary angioedema (HAE) is a rare but potentially life-threatening disease affecting approximately 1 in 67,000 individuals, with no identified differences in prevalence due to sex or ethnicity. […] The economic burden of HAE was analyzed by Wilson and colleagues, who conducted a survey of 457 patients diagnosed with HAE. […] Another patient survey conducted by Banerji and colleagues in 186 patients with diagnosed HAE found that 72% of patients with type I or II HAE and 76% with type III HAE reported that HAE had a significant impact of their quality of life. […] Therefore, in patients with HAE, achieving the correct diagnosis early in the course of symptoms is critical to optimize patient outcomes. Most cases of HAE are still undiagnosed for several years after the initial attack, leading to significant morbidity, frequent emergency department visits, and potential mortality. Improved healthcare provider awareness and understanding of the condition and its differential diagnosis will assist in improving outcomes in patients with HAE.
#1 Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0815-5
A population-based estimate of ACEI-AEs has not been published before. The annual (1st-year) cumulative incidence of angioedema among ACEI users is fairly stable, as the meta-analyses of the randomized controlled trials and the database analyses suggest. However, the population-based prevalence is necessarily variable and depends on the actual use of ACEI in the population, how this use was measured, and the demographic mix, especially with respect to the representation of African-Americans. […] It appears that the epidemiology of C1-INH-HAE is stable across the geographic regions covered in this review. This may be the result of a stable mix of spontaneous mutations and inherited patterns. […] There are several potential clinical implications of our results: ACEI-AE may currently be underdiagnosed in some populations.
#1 Hereditary Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135604-overview
C1-INH deficiency is present at birth in HAE, although only a few patients have been reported with perinatal angioedema. Symptoms usually become apparent in the first or second decade of life. Approximately 40% of people with HAE experience their first episode before age 5 years, and 75% present before age 15 years. Patients typically experience minor swelling in childhood that may go unnoticed, with increased severity around puberty. However, HAE with normal C1 inhibitor levels is found in the second decade of life or later and occurs only rarely before puberty. HAE is a lifelong affliction, although some report decreased symptoms with age. Five percent of adult HAE carriers are asymptomatic, and they are identified only after their children are found to be symptomatic.
#1 Hereditary Angioedema (HAE) | Takeda U.S. Medical
https://www.takedamedconnect.com/diseases-and-conditions/rare-immunology/hereditary-angioedema
HAE is a rare condition with an estimated prevalence of 1 in 50,000, though exact prevalence may vary due to misdiagnosis and geographical region. Symptoms are unpredictable and can manifest at any age, but typically appear during childhood (5 to 11 years), worsen during puberty (particularly among females), and persist throughout life. […] Due to its rarity and symptom overlap with other conditions, HAE is frequently under-recognized leading to delayed diagnosis. Historically, the rate of mortality has been higher in undiagnosed HAE patients due to lack of awareness of potential fatal laryngeal attacks and inadequate treatment.
#1
https://journals.lww.com/aora/fulltext/2024/04010/hereditary_angioedema__a_rare_case_report_and.6.aspx
Timely diagnosis is crucial, as delays in diagnosis can lead to fatal outcomes. […] Due to a lack of awareness, the disease often goes undiagnosed for an extended period. There is an immediate need for increased clinical awareness and the availability of laboratory resources to reduce diagnostic delays and enhance overall outcomes.
#1
https://link.springer.com/article/10.1007/s40629-022-00223-8
The existence or otherwise of an HAE diagnosis made a material difference to the progression of the disease: The number of hospitalizations per year due to serious attacks was 14.3 prior to diagnosis and fell to just 4.3 after diagnosis. […] The burden of the disease is essentially determined by the unpredictability of individual attacks or their severity. […] The key theme of modern HAE management is to improve the health-related quality of life of those affected and their families. […] This treatment recommendation is based on the now well-established long-term prophylaxis treatment options, such as C1 inhibitors obtained from plasma (intravenously [IV] or subcutaneously [SC]), lanadelumab (SC) and berotralstat (orally), which significantly reduce the frequency and severity of attacks. […] Improved access to effective HAE treatment, whether from a perspective of acute treatment or with a focus on long-term prophylaxis, is one of the key factors that can improve the quality of life of those affected. […] Long-term prophylaxis should be a key component of treatment here.
#1 Chronic Angioedema Registry – CARE
https://chronic-angioedema-registry.com/
The aim of this project is to establish and run a global registry for all patients with angioedema, i.e. patients with mast cell-mediated angioedema (AE-MC), bradykinin-mediated angioedema (AE-BK) and other types of angioedema (AE). The registry will collect real life data with the objective to improve the knowledge on chronic angioedema, among others regarding its epidemiology (e.g. frequency, duration, course of disease), underlying causes, comorbidities, trigger factors, treatment response, costs and impact of disease as well as to globally improve the understanding of chronic angioedema and its types and sub-types. […] As of now, the epidemiology, duration, disease course, response to treatment and underlying causes of chronic angioedema are still ill defined. […] Therefore, the Chronic Angioedema Registry (CARE) was set up as an academia-driven, open-ended registry for all sub-forms of chronic angioedema, i.e. mast cell mediated angioedema (AE-MC), bradykinin-mediated angioedema (AE-BK), drug-induced angioedema, hereditary angioedema (HAE) and angioedema of unknown origin.
#2 Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135208-overview
The reported incidence or prevalence of angioedema varies depends on the study population and the method of study (eg, patient reported vs physician diagnosed). The World Allergy Organization (WAO) notes that urticaria and angioedema affects up to 20% of the population. It is estimated that approximately 10-20% of population may experience at least 1 episode of angioedema during their lifetime. […] Approximately 40-50% of patients with chronic spontaneous urticaria have angioedema, and about 10% have angioedema alone. […] Up to 0.5% of the population is estimated to have chronic or recurrent angioedema. […] HAE has an estimated prevalence of 1:10,000 to 1:50,000. […] The prevalence of AAE is very low; until 2006, only about 136 cases had been reported in the literature. […] The reported incidence of ACE inhibitor-induced angioedema ranges from 0.1% to 6%.
#2 Angioedema | Treatment & Management | Point of Care
https://www.statpearls.com/point-of-care/38391
A retrospective study showed angioedema was the second most common disorder after asthma for hospitalization in New York State. African Americans made up 42% of these angioedema admissions. […] Hereditary angioedema is a rare autosomal dominant condition and affects 1/50,000 individuals. […] A Swedish study showed hereditary angioedema affected females more severely compared to males.
#2 Overview of Epidemiology, Pathophysiology, and Disease Progression in Hereditary Angioedema
https://www.ajmc.com/view/ace010_13jun_lumry1_s103to10
Hereditary angioedema (HAE) is an autosomal dominant disease caused by a deficiency in functional C1 inhibitor affecting an estimated 1 in 50,000 individuals in the United States. […] The condition is thought to affect anywhere between 1 in 10,000 and 1 in 150,000 individuals worldwide, but its rarity makes accurate prevalence estimations difficult. […] Long delays in diagnosis (averaging 13.1 years in the Spanish study) combined with the possibility of misdiagnosis and a general lack of disease recognition mean that the actual prevalence may be higher than estimates suggest. […] Despite advances in testing procedures and more disease recognition, the diagnosis of HAE still presents considerable challenges for physicians, particularly in the primary care setting. […] Delayed diagnosis of HAE has been a persistent problem with serious consequences.
#2
https://link.springer.com/article/10.1186/s13023-018-0815-5
Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. […] We identified 4 relevant publications on the prevalence of ACEI-AE, 6 on the prevalence of C1-INH-HAE, and 1 on the prevalence of C1-INH-AAE. The population prevalence of ACEI-AE was modeled to vary between 7 and 26 in 100,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 0.15 per 100,000 in one epidemiological investigation of AAE in Denmark. […] Epidemiological evidence on Bk-AE is limited to North America and Europe. ACEI-AE is more common than C1-INH-HAE (~10:1), which is more common than C1-INH-AAE (~10:1). More studies are needed to comprehensively assess the epidemiological burden of Bk-AE.
#2 Epidemiology, economic, and humanistic burden of hereditary angioedema: a systematic review | Orphanet Journal of Rare Diseases | Full Text
https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03265-z
The prevalence of type 1 HAE is observed in the majority of patients (80%-85%), whereas type 2 HAE is present in 15% to 20% of patients. […] An analysis reported that HAE-nC1-INH is exclusive to women and postulated it to be related to X-linked dominant mode of inheritance. […] The unpredictability of angioedema attacks, high risk of asphyxia, and the need for emergency intervention often result in a significant burden for patients with C1-INH-HAE. […] The burden of all types of HAE with respect to epidemiology was reported in 39 articles, whereas the economic burden and humanistic burden of the disease were reported in 16 and 23 articles, respectively. […] The major components accounting for the increase in economic costs were hospitalization, treatments, unnecessary surgeries, doctors visits, specialist services, and nurse costs.
#2 Angioedema in Australia: hospital admission rates and fatalities, 2000â2013 | The Medical Journal of Australia
https://www.mja.com.au/journal/2018/208/7/angioedema-australia-hospital-admission-rates-and-fatalities-2000-2013
Differences between the US and Australia in angioedema-related fatality trends may reflect differences in the prevalence of risk factors, such as age, sex, hypertension, the use of ACEIs, and African-American ancestry. […] HAE- and ACEI-related angioedema are associated with a high risk of recurrence, underscoring the importance of recognising potential causes early.
#2
https://link.springer.com/article/10.1186/s13023-018-0815-5
The prevalence of ACEI-AE is determined by the country-specific use of antihypertensive; in the US, the prevalence was estimated to vary between 0.7 and 1.7 per 10,000 inhabitants when weighting the risk of ACEI-AE among Caucasians and African-Americans. In Germany it was estimated to vary between 1.0 and 2.6 per 10,000 while in France it was estimated to be lower and vary between 0.4 and 1.0 in 10,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 1.5 per 1 Million from the one available epidemiological investigation of C1-INH-AAE in Denmark. […] A population-based estimate of ACEI-AEs has not been published before. The annual (1st-year) cumulative incidence of angioedema among ACEI users is fairly stable, as the meta-analyses of the randomized controlled trials and the database analyses suggest. However, the population-based prevalence is necessarily variable and depends on the actual use of ACEI in the population, how this use was measured, and the demographic mix, especially with respect to the representation of African-Americans. […] It appears that the epidemiology of C1-INH-HAE is stable across the geographic regions covered in this review. This may be the result of a stable mix of spontaneous mutations and inherited patterns.
#2 Hereditary angioedema: epidemiology, management, and role of icatibant | BTT
https://www.dovepress.com/hereditary-angioedema-epidemiology-management-and-role-of-icatibant-peer-reviewed-fulltext-article-BTT
Hereditary angioedema (HAE) is an autosomal dominant, potentially life-threatening condition, manifesting as recurrent and self-limiting episodes of facial, laryngeal, genital, or peripheral swelling with abdominal pain secondary to intra-abdominal edema. The estimated prevalence of HAE in the general population is one individual per 50,000, with reported ranges from 1:10,000 to 1:150,000, without major sex or ethnic differences. HAE has been reported to result in enormous humanistic burden to patients, affecting both physical and mental health, with a negative impact on education, career, and work productivity, and with substantial economic burdens. The timely and proper use of disease-specific treatments could improve patients’ quality of life, reduce the disease-specific morbidity and mortality, and, last but not least, reduce costs associated with hospitalizations and emergency room visits. […] Therefore, the paradigm of HAE treatment has the potential to evolve significantly, thereby exponentially improving a patients quality of life.
#2 Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies | springermedizin.de
https://www.springermedizin.de/epidemiology-of-bradykinin-mediated-angioedema-a-systematic-inve/15739762
Bradykinin-mediated angioedema (Bk-AE) can be life-threatening and requires specific targeted therapies. Knowledge of its epidemiology may help optimize its management. […] We identified 4 relevant publications on the prevalence of ACEI-AE, 6 on the prevalence of C1-INH-HAE, and 1 on the prevalence of C1-INH-AAE. The population prevalence of ACEI-AE was modeled to vary between 7 and 26 in 100,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 0.15 per 100,000 in one epidemiological investigation of AAE in Denmark. […] Epidemiological evidence on Bk-AE is limited to North America and Europe. ACEI-AE is more common than C1-INH-HAE (~10:1), which is more common than C1-INH-AAE (~10:1). More studies are needed to comprehensively assess the epidemiological burden of Bk-AE.
#2 Epidemiology of Bradykinin-mediated angioedema: a systematic investigation of epidemiological studies | springermedizin.de
https://www.springermedizin.de/epidemiology-of-bradykinin-mediated-angioedema-a-systematic-inve/15739762
The prevalence of ACEI-AE is determined by the country-specific use of antihypertensive; in the US, the prevalence was estimated to vary between 0.7 and 1.7 per 10,000 inhabitants when weighting the risk of ACEI-AE among Caucasians and African-Americans. In Germany it was estimated to vary between 1.0 and 2.6 per 10,000 while in France it was estimated to be lower and vary between 0.4 and 1.0 in 10,000. The prevalence of C1-INH-HAE was estimated to vary between 1.1 and 1.6 per 100,000. The prevalence of C1-INH-AAE was estimated to be 1.5 per 1 Million from the one available epidemiological investigation of C1-INH-AAE in Denmark. Overall, the prevalence figures would be approximately 1.5 per 10,000 for ACEI-AEs, 1.5 per 100,000 for C1-INH-HAE and 1.5 per 1 Million for C1-INH-AAE. […] A population-based estimate of ACEI-AEs has not been published before. The annual (1st-year) cumulative incidence of angioedema among ACEI users is fairly stable, as the meta-analyses of the randomized controlled trials and the database analyses suggest. However, the population-based prevalence is necessarily variable and depends on the actual use of ACEI in the population, how this use was measured, and the demographic mix, especially with respect to the representation of African-Americans. […] It appears that the epidemiology of C1-INH-HAE is stable across the geographic regions covered in this review. This may be the result of a stable mix of spontaneous mutations and inherited patterns.
#2 Hereditary angioedema: Epidemiology and burden of disease: Ingenta Connect
https://www.ingentaconnect.com/content/ocean/aap/2020/00000041/a00106s1/art00003
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by swelling of subcutaneous, mucosal, and submucosal tissue without associated pruritus or wheals caused by a temporary localized increase in vascular permeability. […] Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. […] The burden of disease for patients with HAE is substantial. […] Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE.
#3 Angioedema: Practice Essentials, Background, Pathophysiology
https://emedicine.medscape.com/article/135208-overview
The reported incidence or prevalence of angioedema varies depends on the study population and the method of study (eg, patient reported vs physician diagnosed). The World Allergy Organization (WAO) notes that urticaria and angioedema affects up to 20% of the population. It is estimated that approximately 10-20% of population may experience at least 1 episode of angioedema during their lifetime. […] Approximately 40-50% of patients with chronic spontaneous urticaria have angioedema, and about 10% have angioedema alone. […] Up to 0.5% of the population is estimated to have chronic or recurrent angioedema. […] HAE has an estimated prevalence of 1:10,000 to 1:50,000. […] The prevalence of AAE is very low; until 2006, only about 136 cases had been reported in the literature. […] The reported incidence of ACE inhibitor-induced angioedema ranges from 0.1% to 6%.
#3 Hereditary angioedema: Epidemiology and burden of disease. | EBSCOhost
https://search.ebscohost.com/login.aspx?direct=true&profile=ehost&scope=site&authtype=crawler&jrnl=10885412&AN=146700572&h=6eoLj40woN%2BU%2FeFmW%2BZ30OLp%2FE2jiKyKc4spKmUm2t6MD0IDyhzj3uiVj2uosv6JaunG0Ip6FWBhtj83m9Xt%2Fw%3D%3D&crl=f
Hereditary angioedema (HAE) is a rare autosomal dominant genetic disorder characterized by swelling of subcutaneous, mucosal, and submucosal tissue without associated pruritus or wheals caused by a temporary localized increase in vascular permeability. […] Reports of the prevalence of HAE C1 inhibitor (C1-INH) deficiency varies widely, from 1:50,000 to 1:100,000. […] Approximately one-third of patients with recurrent angioedema without wheals have HAE. […] The burden of disease for patients with HAE is substantial. […] Significant advances have been made in the past decade to expand both acute and prophylactic treatment options for patients with HAE, lowering both the disease and treatment burden, and improving the QoL of patients with HAE.
#4
https://journals.lww.com/aora/fulltext/2024/04010/hereditary_angioedema__a_rare_case_report_and.6.aspx
Hereditary angioedema (HAE) is a rare disorder due to either deficiency or dysfunction of Complement 1 (C1) esterase inhibitor (C1-INH). […] The estimated prevalence varies widely by region, from 1:50,000 to 1:100,000 population. […] Undiagnosed cases have shown a mortality rate of 30%40%, with upper airway obstruction due to laryngeal edema being the primary cause of death. […] The diagnosis of HAE is challenging due to its uncommonness and lack of awareness and/or diagnostic facilities. […] HAE should be considered in individuals experiencing the early onset of repeated AE without urticaria, particularly if there is a positive family history, recurrent abdominal pain, upper airway edema, and a lack of response to antihistamines, glucocorticoids, or epinephrine. […] There is a significant delay in diagnosing HAE, typically spanning 1012 years from symptom onset.