Hereditary Angioedema: What is it & why you should be wary of this rare disease
May 16 is observed as Hereditary Angioedema Day. The rare disease often remains undiagnosed as its symptoms are often mistaken for allergies.
Hereditary Angioedema (HAE), a rare disease, which often remains undiagnosed due to its symptoms being similar to allergies, is a cause of concern as it can prove fatal, health experts at the Post Graduate Institute of Medical Education and Research (PGIMER) said.
The rare genetic disorder was added to the list of National Policy for Rare Disease last year.
Dr Ankur Jindal, founding member and general secretary of Hereditary Angioedema Society of India and assistant professor of paediatric clinical immunology and rheumatology, PGI, says that hereditary angioedema causes swelling in different parts of the body. This swelling can occur in areas such as face, hands, feet, and even the airways, which can cause breathing difficulties in a patient. HAE attacks can happen suddenly and without warning, and it can be quite painful.
HAE manifests in two forms: allergic and hereditary. The type under discussion is the hereditary form of angioedema, which is not allergy related. This genetic defect arises from a deficiency in a specific protein due to gene abnormalities, he added.
The chances of transmission from parents to children are 50%.
Currently, Punjab has 40 patients, Haryana 35 and Chandigarh 15, according to PGI records.
In India, at least one lakh patients are affected by the disease, yet many remain undiagnosed due to a lack of awareness among both physicians and patients. Without proper diagnosis and treatment, these individuals face fatal consequences, according to PGI experts.
“With a prevalence of one in 10,000, in Chandigarh, we have identified 15 patients from Chandigarh. Thus, it is assumed that there are an additional 40 undiagnosed cases in the city,” said Dr Jindal.
Warning signs to see doctor
If you experience recurring swelling episodes affecting areas like the feet, face, and abdomen, especially if there is no associated itching, it is advisable to consult a doctor for further evaluation and investigation.
Simple blood test for detection
The disease can be diagnosed with a simple blood test, readily available at PGIMER, Chandigarh. Tests for C4 and C1 levels are accessible and affordable options for diagnosis, added Dr Jindal.
Treatment available free of cost
Treating the disease in private hospitals is costly in India, but under the government’s National Policy for Rare Diseases, the disease is covered under the policy. With 12 centres of excellence across the country, patients can access treatment free of charge at PGI, Chandigarh.
Mortality rate stands at 30%
Dr Jindal explained that this is a life-threatening condition with no permanent cure, individuals must undergo lifelong medication to manage symptoms. If left undiagnosed, the mortality rate stands at 30%, but early diagnosis can reduce this risk significantly.