AN INHERITED BLOOD VESSEL DISORDER
Hereditary Haemorrhagic Telangiectasia (HHT)
An inherited disorder of blood vessels causing recurrent nosebleeds, small red spots on skin and mucous membranes, and abnormal blood vessel connections in internal organs. Managed with specialist long-term care.
ABOUT THIS CONDITION
What is Hereditary Haemorrhagic Telangiectasia
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an inherited disorder of blood vessels in which abnormal connections form between arteries and veins, leading to fragile, dilated blood vessels (telangiectases) and larger abnormal connections (arteriovenous malformations or AVMs) in various organs. The condition is autosomal dominant, meaning a child with one affected parent has a 50% chance of inheriting it. Typical features include recurrent nosebleeds — often the first and most common symptom, starting in childhood; small red or purple spots on the lips, tongue, fingertips and inside the mouth and nose; iron deficiency anaemia from chronic blood loss; and abnormal blood vessel connections in the lungs, liver, brain or gastrointestinal tract, which can cause specific complications. Diagnosis is based on clinical criteria, family history and genetic testing. Treatment focuses on managing bleeding, screening for and treating organ AVMs, supplementing iron and providing genetic counselling. Dr. Patnam Pravallika Reddy provides initial evaluation and co-management with specialists at Lux Hospitals, Hyderabad.
SIGNS TO WATCH
Common Symptoms
Symptoms that need attention
WHY IT HAPPENS
Causes & Risk Factors
- Inherited gene mutations affecting blood vessel development
- Autosomal dominant inheritance — affected parent passes to 50% of children
- Several known genes can cause HHT
- Family history of HHT is a key clue
- No environmental triggers — purely genetic
- Can manifest at different ages and severities
- Genetic counselling important for affected families
CLINICAL DETAILS
KeyFacts
Clinical criteria (Curaçao criteria) combined with family history; genetic testing
Highly variable — some have minor symptoms, others have major organ AVMs
Management of bleeding, screening for and treating organ AVMs, iron supplementation
Regular screening for lung, brain and liver AVMs is essential
Multidisciplinary care often needed
Available at Lux Hospitals, Hyderabad — co-managed with specialists
HOW WE TREAT IT
Treatment Approach
Multidisciplinary Long-Term Care
The most effective approach is multidisciplinary care including management of recurrent nosebleeds, screening for and treating organ AVMs (lung, brain, liver, GI), iron supplementation, genetic counselling and family screening — all under coordinated specialist care.
- 1
Consultation & Assessment
Dr. Pravallika reviews symptoms and family history, examines for telangiectases and arranges blood tests, imaging and specialist referrals.
- 2
Treatment Planning
A personalised plan is created in coordination with relevant specialists — ENT, pulmonology, hepatology, neurology — based on individual involvement.
- 3
Medical Management
Management of nosebleeds, iron supplementation, treatment of identified AVMs, and ongoing surveillance.
- 4
Recovery & Follow-up
Long-term follow-up with regular screening of organ AVMs, family screening and ongoing multidisciplinary care.
AVAILABLE TREATMENTS
Treatment Options
Management of Recurrent Nosebleeds (Referral for ENT)
Various local and procedural treatments help control recurrent nosebleeds, which are often the most troublesome symptom.
Iron Supplementation and Blood Transfusion When Needed
Iron supplementation and occasional blood transfusion address anaemia from chronic blood loss.
Screening for Organ AVMs
Regular screening for AVMs in the lungs, brain, liver and gastrointestinal tract helps detect them before complications develop.
Treatment of Organ AVMs (Referral for relevant specialist)
Procedural treatment such as embolisation is used for selected lung, brain and liver AVMs to prevent complications.
Genetic Counselling and Family Screening
Family members are screened for HHT, and genetic counselling helps with reproductive decisions and early diagnosis in younger family members.
COMMON QUESTIONS
Frequently Asked Questions
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