Which are the symptoms of Hereditary Hemorrhagic Telangiectasia?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, primarily presents with recurrent spontaneous nosebleeds (epistaxis), visible red spots on the skin (telangiectasias), and potential internal organ vascular malformations. Because HHT affects blood vessel formation throughout the body, symptoms vary significantly between individuals, even within the same family, ranging from mild skin involvement to life-threatening internal bleeding.

What are the most common symptoms of Hereditary Hemorrhagic Telangiectasia?

The hallmark of Hereditary Hemorrhagic Telangiectasia is the formation of vascular anomalies. The most frequent clinical manifestation is epistaxis, which occurs in approximately 90% of patients. These nosebleeds are often recurrent and can range from minor nuisance bleeds to severe, life-altering hemorrhages. Additionally, patients typically develop telangiectasias—small, dilated blood vessels that appear as distinct red or purple spots on the skin, particularly on the face, lips, tongue, and fingertips. These lesions are a diagnostic hallmark of Hereditary Hemorrhagic Telangiectasia and may also occur in the gastrointestinal tract, leading to chronic, invisible blood loss and anemia.

How does Hereditary Hemorrhagic Telangiectasia affect internal organs?

Beyond the skin and nose, Hereditary Hemorrhagic Telangiectasia can cause Arteriovenous Malformations (AVMs) in major organs. These malformations bypass the capillary bed, creating direct connections between arteries and veins that are prone to rupture. The following list outlines the primary areas of concern for internal AVMs:

• Pulmonary AVMs: Occur in roughly 15-50% of patients, potentially causing low oxygen levels and increasing the risk of stroke or brain abscess.


• Hepatic AVMs: Common in the liver, these can lead to heart failure or portal hypertension, though they are often asymptomatic for years.


• Cerebral AVMs: Present in approximately 10-20% of cases, these carry a risk of intracranial hemorrhage and require specialized screening.


• Gastrointestinal AVMs: These are a frequent source of chronic blood loss, often leading to iron-deficiency anemia, which is a major factor in the reduced quality of life for many in the Hereditary Hemorrhagic Telangiectasia community.

When should I seek immediate medical attention?

While many symptoms of Hereditary Hemorrhagic Telangiectasia are manageable, certain "red flag" symptoms require emergency care. You must seek immediate evaluation if you experience a sudden, severe headache, unexplained neurological deficits (such as weakness or slurred speech), significant shortness of breath, or black, tarry stools, which may indicate acute gastrointestinal bleeding. Because Hereditary Hemorrhagic Telangiectasia is a progressive condition, it is vital to maintain regular monitoring with a multidisciplinary team to detect these high-risk vascular changes before they become symptomatic.

How do symptoms change over time?

The clinical presentation of Hereditary Hemorrhagic Telangiectasia is highly variable and tends to progress with age. Many individuals do not notice symptoms in childhood, but nosebleeds typically increase in frequency and severity during the second and third decades of life. Telangiectasias on the skin and mucosal surfaces often become more numerous as a patient ages. Currently, 141 people with Hereditary Hemorrhagic Telangiectasia have joined the DiseaseMaps.org community to share their experiences with these evolving symptoms, highlighting that while the disease is chronic, proactive management can significantly mitigate long-term complications.

Next steps

• Consult a specialized HHT Center of Excellence for a comprehensive screening of internal organs.


• Speak with a hematologist or primary care physician to manage chronic iron-deficiency anemia.


• Join the DiseaseMaps.org community to connect with other patients and share strategies for managing daily symptoms.


• Request a referral to a genetic counselor to discuss family screening, as HHT is an autosomal dominant condition.

Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the guidance of your physician or other qualified health provider with any questions regarding a medical condition.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Hereditary Hemorrhagic Telangiectasia.


• Orphanet: Rare Disease Database (ORPHA: 774).


• Cure HHT (HHT Foundation International): Clinical Guidelines for Management.


• OMIM (Online Mendelian Inheritance in Man): Entry #187300.