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O angioedema hereditário (AEH) é uma doença genética rara que afeta o sistema imunológico. Causa ataques de inchaço grave na pele, mãos, pés, rosto e vias respiratórias. Esses ataques geralmente começam na infância, mas tendem a piorar após a puberdade.
HAE is a lifelong genetic condition that affects approximately one in 50,000 to 150,000 individuals worldwide. In the United States, it is thought that the disorder affects one in 50,000 people. Although these figures are estimated, the true prevalence of HAE remains unknown.
The severity of HAE varies significantly from person to person, and there are several types of the condition.
Types of HAE
People with HAE have a genetic defect in a protein called a C1 inhibitor. O inibidor C1 é encontrado no sangue e atua com o sistema imunológico do corpo para equilibrar os produtos químicos usados para combater doenças e responder a lesões.
Se não houver inibidor C1 suficiente ou se estiver defeituoso, isso pode levar ao desequilíbrio dos produtos químicos. Isso faz com que o excesso de fluidos seja liberado nos tecidos do corpo, criando inchaço. O inchaço causado pelo excesso de líquido preso nos tecidos do corpo é conhecido como edema.
There are three types of HAE:
- Tipo I: People with type I HAE have low levels of the C1 inhibitor protein.
- Tipo II: People with this type have normal levels of the C1 inhibitor protein, but it does not work correctly.
- HAE with normal C1 inhibitor: In this type, C1 inhibitor protein levels are normal and it functions correctly. No entanto, defeitos em três genes que controlam a produção do factor XII e do plasminogénio (envolvido na coagulação) e da angiopoietina-1 (envolvida no desenvolvimento dos vasos sanguíneos) causam AEH nestes indivíduos.
HAE type I is the most common form of this genetic condition. It accounts for 85% of cases.
Causes of HAE
Inheritance of HAE is autosomal dominant. This means that the genetic condition occurs when a child inherits one copy of a defective gene from one parent. For example, if a child has one parent with the defective gene, that child has a 50% chance of inheriting that defective gene.
Occasionally, HAE can occur in children whose parents do not have HAE or a defective gene. In these children, a spontaneous mutation of the gene occurs, causing HAE. The US Hereditary Angioedema Association discusses that up to 25% of HAE diagnoses result from a random mutation of the C1 Inhibitor gene.
Will Your Child Have HAE?
Se você ou seu parceiro tiver um diagnóstico de AEH, então seu filho tem 50% de chance de nascer com a doença. Se você está planejando ter um bebê e está preocupado porque você ou seu parceiro tem AEH, pode ser útil falar com seu médico de família ou um conselheiro genético.
Aconselhamento Genético
A genetic counselor can give you information about how a genetic condition can affect your family. They can discuss a wide range of topics with you, including:
- How HAE is passed from parent to child
- The potential benefits and disadvantages of genetic testing
- Whether a genetic test is right for you
- Types of genetic testing for HAE
- Advice on how to talk to your child, other family members, and friends about a genetic condition
- Managing your health through pregnancy if you have HAE
If you are not sure how to find a genetic counselor, speak to your family physician for guidance. You can also search for a genetic counselor on the National Society of Genetic Counselors directory.
Sinais e Sintomas
HAE symptoms usually begin in childhood, get worse through puberty, and persist through adulthood. Fifty percent of people report that they experienced their first symptoms by the age of 7.
The main symptom of HAE is swelling due to a buildup of excess fluid (edema). As áreas do corpo mais comumente afetadas são mãos, pés, pálpebras, lábios, órgãos genitais e as membranas mucosas que revestem os tratos respiratório e digestivo.
A rash or itching does not accompany the swelling as it would in an allergic reaction. Instead, it tends to be hard and painful. Symptoms seen in different parts of the body include:
- Skin swelling (cutaneous edema): This usually occurs in the face, hands, arms, legs, genitals, and buttocks. It may be painful and unsightly but is temporary. Symptoms typically resolve in two to four days for most attacks.
- Abdominal symptoms (swelling of the membranes that line the gastrointestinal tract): These can cause abdominal pain, nausea, vomiting, and diarrhea.
- Upper airway membrane swelling: This can include the larynx (windpipe) and tongue and therefore be life-threatening. Swelling in these areas can cause upper airway obstruction, difficulty speaking, swallowing problems, and difficulty breathing.
The severity of attacks varies considerably, even within affected families. Less common symptoms have been identified, including neurological, pulmonary (lung), renal (kidney), urinary, and musculoskeletal symptoms.
Potential Triggers
Although symptoms can happen spontaneously, potential triggers have been identified. The most common triggers include:
- Ansiedade
- Estresse
- Minor trauma
- Cirurgia
- Resfriados, gripes e outras infecções virais
- Dentes infectados e tratamentos dentários
- Helicobacter pylori (uma bactéria que pode estar presente no estômago)
- Intubação para anestésicos durante uma operação
- Alterações hormonais (especialmente puberdade)
Algumas pessoas também relataram que os sintomas são desencadeados após atividades prolongadas, como digitar, longos períodos escrevendo, escavando e martelando.
Quando ligar para o 911
Se seu filho começar a sentir o menor sinal de inchaço na garganta, você deve ligar para o 911 e procurar tratamento imediato. O inchaço na garganta pode bloquear as vias aéreas, o que é fatal.
Medicamentos que tratam o inchaço causado por alergias (como injetores de epinefrina, corticosteróides ou anti-histamínicos) não são tratamentos eficazes para AEH.
Tratamento
Várias opções estão disponíveis para o tratamento e prevenção de ataques de AEH, todas aprovadas pela Food and Drug Administration (FDA):
- Cinryze (inibidor da esterase C1): É aprovado para tratamento preventivo de rotina contra ataques de angioedema de AEH em adultos, adolescentes e pacientes pediátricos (6 anos de idade ou mais).
- Berinert (inibidor da esterase C1 – humano): Este medicamento é usado para tratar ataques agudos de AEH em adultos e crianças. Berinert é administrado por via intravenosa (na veia), mas foi desenvolvido para ser autoadministrado após o treinamento.
- Ruconest (inibidor da esterase C1 – recombinante): Foi aprovado para tratar ataques agudos de AEH em adultos e adolescentes.
- Haegarda (inibidor da esterase C1 – humano, pasteurizado): Este medicamento é prescrito para prevenção de rotina de ataques de AEH em pacientes com 6 anos ou mais.
- Orladeyo (berotralstat): É usado para prevenção de rotina de ataques de AEH em adultos e pacientes pediátricos com 12 anos ou mais. Este medicamento é tomado por via oral.
- Takhzyro (lanadelumab): This medication is approved to prevent HAE attacks in patients 12 years and older.
- Kalbitor (ecallantide): This is a treatment for acute attacks of HAE in patients older than 12 years and must be administered by a healthcare professional.
- Firazyr (icatibant generic): This drug can be used to treat acute attacks of HAE in adults over 18 years.
- Dawnzera (donidalorsen): This drug is used for routine prevention of HAE attacks in adults and children ages 12 years and older. Dawnzera is administered as a subcutaneous injection every 4 or 8 weeks.
Preventative Treatment
Short-term preventative treatment is advised before surgery or dental procedures to avoid attacks caused by these types of triggers.
How to Support Your Child With HAE
Learning to cope with HAE is hard for children and teens. They experience physical symptoms such as pain and discomfort, along with the accompanying emotions such as fear, sadness, and anxiety. Talking to your child is the first step to supporting those living with HAE.
By talking with your child, you can help them learn coping strategies and prepare them for an episode of symptoms. Se você ou seu parceiro tiver AEH, compartilhe suas experiências com seu filho para que ele não se sinta tão preocupado e com medo se testemunhar você tendo um ataque de AEH.
There are supporting organizations that can help you and your child, such as the US Hereditary Angioedema Association. They offer advice and tool kits to support parents with children of all ages. Information is also available to help you discuss HAE with your child’s teachers, school nurse, and other people in their life.
Encourage your child to ask you questions about HAE. If you are worried about not having the answers, you can seek help from your healthcare provider to get answers.
Também é importante incentivar seu filho a falar abertamente e contar a um adulto se estiver apresentando sintomas, independentemente do local, especialmente quaisquer sintomas na garganta, que podem ser perigosos.
Reassure your child that there are treatments to help them live life to the fullest. Explain that HAE should not stop them from pursuing and achieving their dreams. There is a range of treatments to help both prevent and treat HAE attacks.
Raising a child with a genetic condition can be challenging for any parent. As well as supporting your child, make sure you get help too if you need it. Reach out to your healthcare provider, peers, or a support group if you feel stressed, anxious, worried, or depressed. Talking to families who also live with HAE can be a very beneficial way to cope.
Resumo
Hereditary angioedema is a rare genetic disorder that produces attacks of severe swelling. It can be inherited or result from a new mutation in an individual. Swelling affecting the airway can be life-threatening.
Os medicamentos para controlar a doença incluem aqueles que podem ser administrados em caso de ataque grave, bem como aqueles que são administrados para prevenir ataques. Parents can discuss the condition with their child and encourage them to report any symptoms immediately.
Uma Palavra da Saúde Teu
Before 2008, treatment options were limited for HAE, but now there are several effective treatments to help manage the condition. You can also administer many medicines at home after instruction from a healthcare professional. With treatments continuously developing, it is becoming easier to manage life with HAE.
