🧬 Genetic Disorder

Hereditary Angioedema

Also known as: HAE, C1 Inhibitor Deficiency, Hereditary Angioneurotic Edema

Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of severe swelling (angioedema). The swelling most commonly affects the limbs, face, intestinal tract, and airway. HAE is caused by a deficiency or dysfunction of the C1 inhibitor protein, which is involved in regulating the complement system, a part of the immune system.

ICD-10: D84.1 Orphanet: 415 OMIM: 106100
👥 1 in 50,000 Prevalence
🔬 50 Active Trials

Imagine your body has a security system that sometimes goes haywire and causes swelling. Hereditary Angioedema is like having a glitch in that security system, leading to sudden swelling attacks, especially in your face, tummy, or throat. Doctors can give you special medicine to fix the glitch and stop the swelling.

Signs & Symptoms

  • Recurrent episodes of swelling (angioedema)
  • Swelling of the limbs, face, larynx, and abdomen
  • Abdominal pain, nausea, vomiting, and diarrhea
  • Difficulty breathing due to airway swelling
  • Skin rash (erythema marginatum) may occur in some cases

Treatment Options

MEDICATION FDA Approved

C1-Inhibitor Concentrate (Berinert, Cinryze, Ruconest)

HIGHLY EFFECTIVE Approved 1970
MEDICATION FDA Approved

Ecallantide (Kalbitor)

HIGHLY EFFECTIVE Approved 2009
MEDICATION FDA Approved

Icatibant (Firazyr)

HIGHLY EFFECTIVE Approved 2011
MEDICATION FDA Approved

Lanadelumab (Takhzyro)

HIGHLY EFFECTIVE Approved 2018
MEDICATION FDA Approved

Oral Attenuated Androgens (Danazol, Stanozolol)

MODERATELY EFFECTIVE
MEDICATION FDA Approved

Plasma-Derived C1-INH

HIGHLY EFFECTIVE

Diagnosis

  • Measurement of C4 protein levels
  • Measurement of C1 inhibitor protein levels and function
  • Genetic testing for mutations in the SERPING1 gene

History

Hereditary angioedema was first described by Quincke in 1888. In 1963, Donald and Rosen identified the deficiency of C1 inhibitor as the underlying cause. Subsequent research led to the development of effective treatments, significantly improving the prognosis for individuals with HAE.

Recent Breakthroughs

2018

FDA Approves Lanadelumab for HAE Prophylaxis

The FDA approved lanadelumab, a monoclonal antibody that inhibits plasma kallikrein, for the prevention of HAE attacks in patients 12 years and older. This subcutaneous injection significantly reduces the frequency of angioedema attacks.

2020

Oral Plasma Kallikrein Inhibitor Shows Promise in HAE

Clinical trials have shown that oral plasma kallikrein inhibitors are effective in preventing HAE attacks, offering a more convenient alternative to injectable therapies.