• Hereditary angioedema (HAE) is a rare genetic disorder that causes swelling in the face, throat, gastrointestinal tract, and other parts of your body.
  • Your healthcare team should feature a doctor who has treated HAE, usually an allergist-immunologist.
  • Other specialists who may be on your HAE care team include dermatologists, genetic counselors, OB-GYNs, and gastroenterologists.

HAE is usually caused by a genetic mutation that affects a protein called C1 esterase inhibitor (C1-INH). Either your body doesn’t make enough of this protein or the protein you do make doesn’t work like it should.

C1-INH controls the flow of fluid in and out of your blood vessels. When you don’t have this protein or it doesn’t work as expected, fluid can leak from your blood vessels into the surrounding tissue.

The fluid causes attacks of painful swelling under the skin and in mucous membranes. The good news is that HAE can be treated — and the first step to treatment is building your healthcare team.

Your healthcare team should include a doctor who specializes in HAE. Because HAE affects various parts of your body, including your intestines and skin, you’ll also likely need to work with several specialists.

Because HAE is so rare, it can be hard to find a doctor who has experience treating it. Some people with HAE have symptoms for many years and see many doctors before they get the right diagnosis.

You might have seen a primary care doctor or a pediatrician when your symptoms started. Your primary care physician can help manage HAE by:

  • referring you to appropriate specialists
  • offering advice on where to go for evaluation when symptoms arise, whether it’s a clinic, urgent care, or the hospital emergency room
  • overseeing all medications prescribed by the various members of your healthcare team
  • monitoring the long-term effects of medications
  • treating infections that may trigger an HAE attack
  • administering vaccinations for illnesses that can trigger HAE attacks, such as the flu

Now that you have a diagnosis, you’ll also need more specialized care from an allergist-immunologist and a team of other specialists.

It’s important to find a doctor who knows how to manage this condition. When your doctor understands the cause of HAE, they can help you get the right treatment to control your symptoms.

HAE is a complex disease. Treating it involves a team approach, where you see doctors from a few different specialties. Some or all of the following doctors may be part of your care team.

Allergist-immunologist

An allergist-immunologist is a doctor who diagnoses and treats conditions of the immune system, including asthma, allergies, and HAE. C1-INH, the protein that is lacking in HAE, is part of your immune system.

An allergist-immunologist may have diagnosed you with HAE. This doctor will plan and oversee your treatment.

Dermatologist

Because HAE causes rashes and swelling of the skin, a dermatologist will be an important part of your treatment team. This specialist diagnoses and treats conditions of the skin, hair, and nails.

Gastroenterologist

Almost everyone with HAE has belly pain, according to 2014 research. Nausea, vomiting, and diarrhea are also common symptoms.

A gastroenterologist is a specialist who treats diseases of the gastrointestinal (GI) tract, which includes your stomach, intestines, and colon.

Because belly pain sometimes starts before other HAE symptoms, this may have been the first doctor you visited.

After your condition is diagnosed, your gastroenterologist will work closely with your allergist-immunologist to manage your GI symptoms.

Genetic counselor

HAE often runs in families. A genetic counselor can look at your family health history and tell you whether your relatives may be at risk for HAE. They also can explain how the condition passes down from parents to their children.

The genetic counselor can tell you the benefits and risks of genetic testing for your family members and children, if you have any. And they can offer advice on how to talk with your family members about this condition and whether to get tested.

It may be worth talking with a genetic counselor if you’re thinking about starting a family. If either biological parent has HAE, each child has a 50 percent chance of also having the condition.

The genetic counselor can tell you about options to prevent or diagnose HAE in your unborn baby.

OB-GYN

An OB-GYN cares for women’s health. They specialize in treating reproductive health, pregnancy, childbirth, and menopause.

OB-GYNs don’t treat HAE itself, but they’re an important part of your care team. HAE can affect your choice of:

  • birth control
  • pregnancy
  • breastfeeding or chestfeeding

Estrogen-progesterone birth control pills can make HAE attacks worse. Your OB-GYN can prescribe another type of birth control. Progesterone-only intrauterine devices (IUDs) or birth control pills are less likely to trigger HAE symptoms, according to 2016 research.

HAE can complicate pregnancy, labor, and delivery. Your OB-GYN will work with your allergist-immunologist and primary care doctor to help you have a healthy pregnancy.

Some HAE medications aren’t safe to take during pregnancy or while nursing. Your OB-GYN will check your medications to make sure you manage HAE symptoms in a way that is safe for your unborn baby.

It can be challenging to find HAE specialists because the disease is so rare. Your primary care doctor may not have treated anyone with HAE before seeing you.

You can ask your doctor to refer you to someone who has more experience treating HAE. If your doctor is unable to give you a referral, contact the Hereditary Angioedema Association (HAEA). They can help you find a specialist in your area.

HAE affects many different parts of your body, including your immune system, skin, and GI tract.

It helps to see a team of doctors with different specialists. Your care team might include a:

  • primary care doctor
  • allergist-immunologist
  • dermatologist
  • gastroenterologist
  • OB-GYN
  • genetic counselor

Because HAE is so rare, it can be hard to find doctors who specialize in treating it. Reach out to an organization like the HAEA for a referral to a doctor in your area.