Disease of the Month – Telangiectasia

Shots:

Telangiectasia refers to the presence of small, visible red blood vessels, often called broken capillaries, that appear close to the surface of the skin. While common, they are often misunderstood, making awareness and early understanding essential

At PharmaShots, our Disease of the Month report is crafted to make complex medical information accessible and relevant to a global audience. We spotlight conditions that affect communities worldwide, helping readers stay informed and empowered

This report offers a comprehensive, reader-friendly overview of Telangiectasia, including its characteristics, types, symptoms, diagnostic approaches, available treatment options, epidemiology, market size, ongoing clinical trials, active patient advocacy groups (PAGs), and inspiring patient stories

For a detailed landscape analysis and customized insights on Telangiectasia, contact our team at connect@pharmashots.com

Telangiectasia, commonly known as spider veins, are tiny, damaged blood vessels that appear as delicate red, blue, or purple lines, often seen on the legs or face. Sometimes called thread veins or venous flares, these markings are typically harmless, though they may cause mild discomfort or cosmetic concern for some individuals.

While spider veins rarely pose any medical risk, many people choose to treat them to enhance their appearance and boost confidence. The good news? Today’s treatment options are highly effective, and simple lifestyle adjustments can go a long way in preventing new veins from forming.

Telangiectasia isn’t a single entity; it appears in many forms, each offering clues about what’s happening beneath the skin. These tiny, visible vessels can be classified by how they look, whether they occur on their own, or whether they signal an underlying condition. Understanding these variations helps clinicians diagnose more accurately and gives patients greater clarity about their condition.

1. Based on Clinical Appearance

These types are defined by how telangiectasia looks on the skin:

Simple / Linear:

Fine red or blue lines that appear straight or gently curved.

Arborizing:

Distinct tree-like branching vessels, often seen on the face.

Spider (Spider Nevus):

A central red spot with delicate radiating vessels, true to its name.

Papular:

Small, raised red bumps created by clusters of dilated vessels.

2. Primary (Isolated) Telangiectasia

These forms develop independently and are not merely signs of another underlying disease:

Essential (Generalized Essential) Telangiectasia:

Gradually spreading fine vessels, commonly on the legs and lower trunk.

Spider Telangiectases (Spider Naevi):

Classic spider-like patterns, often seen in otherwise healthy individuals.

Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu):

Multiple mucocutaneous telangiectasia accompanied by recurrent nosebleeds and arteriovenous malformations.

Ataxia-Telangiectasia:

A rare neurodegenerative disorder marked by telangiectasia on the skin and eyes.

3. Secondary or Disease-Associated Telangiectasia

These occur as a visible sign of another condition:

Rosacea-Related Telangiectasia:

Persistent facial redness with visible surface vessels.

Sun Damage & Aging:

Sun exposure, fair skin, and smoking accelerate vessel dilation.

Connective Tissue & Autoimmune Diseases:

Limited cutaneous systemic sclerosis / CREST (where T stands for telangiectasia)

Diffuse scleroderma

Dermatomyositis

Lupus (especially around nailfolds)

Chronic Corticosteroid Use:

Long-term use of topical or systemic steroids can thin the skin and promote telangiectasia.

4. Congenital & Syndromic Telangiectasia

In some individuals, telangiectasia is part of a broader congenital or genetic condition:

Cutis Marmorata Telangiectatica Congenita:

A rare vascular anomaly present at birth.

Sturge–Weber Syndrome:

Characterized by facial port-wine stains and neurological vascular malformations.

Other Genetic Syndromes:

Bloom syndrome, xeroderma pigmentosum, and certain hypotrichosis-lymphedema-telangiectasia syndromes.

5. Ocular & Retinal Telangiectasia

When telangiectasia occurs in the eye, particularly around the macula, it is classified into:

Type 1:

Congenital, unilateral, and exudative.

Type 2:

The most common type is acquired, bilateral, and typically seen in middle-aged adults.

Type 3:

A very rare, predominantly occlusive form.

Telangiectasia often begins subtly, but the signs can become unmistakable as small vessels near the surface of the skin or eyes widen and become more visible. Understanding these symptoms early can be key to identifying whether the condition is simply cosmetic or part of something deeper.

Visible Blood Vessels

Fine red, blue, or purple lines appearing just beneath the skin

Most often found on the face especially the nose and cheeks and along the legs

Spider-Like Patterns

Web-shaped clusters with a bright central point (spider nevus)

Often expand gradually, becoming more noticeable over time

Skin Changes

Mild swelling, warmth, or localized inflammation

Occasional burning or itching sensations that may flare with triggers

Bleeding (in Certain Conditions)

Recurrent nosebleeds, particularly in hereditary hemorrhagic telangiectasia (HHT)

Rare gastrointestinal bleeding tied to systemic forms of the disease

Ocular Symptoms (Retinal Telangiectasia)

Blurred or distorted vision

Difficulty reading or focusing on fine details

Dark or blank spots that disrupt central vision, as seen in MacTel Type 2

Mucosal Involvement

Small red spots on the lips, tongue, inside the mouth, or in the nasal passages—often an early warning sign of systemic involvement

Triggers That Amplify Symptoms

Exposure to sunlight or heat

Alcohol consumption

Strong emotions, stress, or vigorous physical activity

Doctors typically diagnose telangiectasia through a careful examination of visible symptoms and a review of the patient’s medical history.

However, it’s important to seek prompt medical attention if you have a family history of related disorders or begin noticing unusual bleeding or lesions in the mouth or eyes, as these signs may point to a more serious underlying condition.

To identify or rule out potential causes, clinicians may recommend a series of diagnostic tests, including:

Blood tests

CT scans

Liver function studies

MRI scans

X-rays

Although telangiectasia is usually harmless, many individuals seek treatment to reduce visible vessels, improve skin appearance, or relieve mild discomfort. Depending on the location, severity, and underlying cause, the following treatment approaches are commonly recommended:

1. Sclerotherapy

A widely used and highly effective procedure for leg spider veins. A specialized solution is injected into the affected vessel, causing it to collapse and fade over time.

2. Laser Therapy

Targeted laser energy heats and seals superficial blood vessels. This non-invasive option is especially effective for facial telangiectasia.

3. Intense Pulsed Light (IPL) Therapy

Broad-spectrum light targets skin discoloration and tiny blood vessels. It is often used for rosacea-related redness and facial spider veins.

4. Electrosurgery / Thermocoagulation

A controlled electric current or heat is applied to destroy small, resistant veins. This method works well for very fine telangiectasia.

5. Topical Medications

Prescription creams such as brimonidine or oxymetazoline can temporarily reduce redness, particularly in rosacea-associated cases.

6. Addressing Underlying Conditions

When telangiectasia is linked to conditions like rosacea, autoimmune disorders, or genetic syndromes, treating the primary disease is essential for long-term improvement.

7. Lifestyle & Preventive Measures

Supporting overall skin and vascular health can help prevent new spider veins:

Regular use of sunscreen

Avoiding extreme temperatures

Maintaining healthy circulation through exercise

Wearing compression stockings (for leg veins)

Reducing alcohol consumption

The global burden of telangiectasia varies significantly depending on the underlying subtype, with hereditary hemorrhagic telangiectasia (HHT) standing as the most extensively researched form. Worldwide, HHT affects an estimated 1 in 5,000 to 1 in 8,000 individuals, making it rare, but far more common than once believed. In certain regions, however, the prevalence is dramatically higher. Genetic founder effects have led to striking clusters, such as in the Dutch Antilles, where rates soar to 1 in 1,331, as well as localized pockets in the French department of Ain and the Danish island of Funen.

Other telangiectasia-related disorders are far rarer. Ataxia-telangiectasia, a severe neurodegenerative condition, affects only 1 in 40,000 to 1 in 100,000 people worldwide, while generalized essential telangiectasia remains exceptionally uncommon and often underdiagnosed.

Incidence & Regional Variation

Across Europe and Japan, population studies consistently report HHT prevalence ranging from 1 in 5,000 to 1 in 8,000, closely aligning with global estimates. In the UK, point prevalence is slightly lower, around 1 in 9,400.

Non-inherited forms of telangiectasia, such as those induced by systemic conditions, environmental triggers, or chronic steroid use, have a much lower incidence, estimated at 1–2 cases per 100,000 people per year.

These variations underscore how genetics, ancestry, and population structure shape the epidemiological landscape.

Gender Patterns: A Distinct Female Predominance

Across multiple registries and epidemiological studies, a consistent trend emerges: women are diagnosed with and affected by telangiectasia more frequently than men. For HHT, adjusted prevalence ratios suggest women may be 1.5 to 2 times more likely to receive a diagnosis.

The clinical expression also differs between sexes:

Women are more likely to require invasive interventions and often exhibit more pronounced hepatic involvement.

Men are more likely to present to emergency departments with acute complications such as severe epistaxis or AVM-related symptoms.

For generalized essential telangiectasia, the gender disparity is even more pronounced, with women representing the vast majority of reported cases.

The global landscape for telangiectasia treatment is expanding rapidly. Valued at USD 0.88 billion in 2024, the market is on track to reach an impressive USD 1.3 billion by 2031. This steady rise, driven by a robust CAGR of 7.90%, reflects increasing patient awareness, advancements in laser and minimally invasive technologies, and a growing preference for effective cosmetic and dermatologic care.

As more individuals seek solutions for visible vascular conditions, the market is poised for sustained growth, offering new opportunities for innovation, improved treatment outcomes, and broader access worldwide.

ENCELTO (revakinagene taroretcel-lwey) represents a major advancement in ocular therapeutics. This innovative allogeneic, encapsulated cell-based gene therapy is specifically designed for adults living with idiopathic macular telangiectasia type 2 (MacTel Type 2, a progressive retinal disorder with limited treatment options. By delivering continuous, targeted therapeutic proteins directly to the retina, ENCELTO offers a novel approach aimed at slowing disease progression and preserving visual function.

Revakinagene taroretcel-lwey (ENCELTO)

ENCELTO marks a breakthrough in ocular therapeutics. Approved by the FDA in March 2025, this allogeneic, encapsulated cell-based gene therapy is specifically indicated for idiopathic macular telangiectasia type 2 (MacTel Type 2). As one of the first treatments directly targeting a retinal form of telangiectasia, ENCELTO represents a significant step forward for patients with a condition that historically lacked effective disease-modifying options.

Brimonidine 0.33% Gel (Mirvaso)

Mirvaso is an α₂-adrenergic agonist approved for the treatment of persistent facial erythema associated with rosacea. While frequently used to reduce visible redness, it is important to note that brimonidine does not have a formal FDA indication for treating telangiectasia itself. Its primary role is symptom management through temporary vasoconstriction.

Oxymetazoline 1% Cream (Rhofade)

Rhofade, an α-adrenergic agonist, received FDA approval in 2017 for persistent facial erythema of rosacea. Similar to brimonidine, it effectively minimizes redness but is not specifically approved for treating telangiectasia. Its action focuses on short-term vessel constriction rather than eliminating visible dilated capillaries.

The scientific race to understand and treat telangiectasia has officially entered a new era. What once lingered as a patchwork of case studies and isolated procedural fixes has evolved into a strategic, multi-phase global research effort pushing the boundaries of innovation.

Today’s Phase I, II, and III trials are exploring an impressive spectrum of possibilities, from precision pharmacologic agents and next-generation vasoconstrictors to targeted biologics, advanced device-based treatments, and trailblazing gene and cell therapies designed for both retinal and cutaneous manifestations of the disease. Together, these programs are redefining how clinicians may diagnose, manage, and ultimately transform outcomes for patients.

What’s striking is where the momentum is building. A commanding share of these studies are anchored in the United States, home to high-powered research institutions, specialized ophthalmology and dermatology networks, and one of the world’s most robust clinical trial ecosystems. This geographic concentration is more than a coincidence, it’s a catalyst. It accelerates patient recruitment, fuels multi-site collaborations, and propels the most promising candidates toward pivotal, practice-changing trials.

Across the world, dedicated patient organizations are stepping up to amplify voices, accelerate research, and ensure individuals living with telangiectasia receive the support they deserve. These groups are not only improving day-to-day quality of life, they are shaping awareness campaigns, influencing policy, funding scientific breakthroughs, and empowering patients with education, community, and hope.

Behind every diagnosis of telangiectasia lies a human story, one of resilience, adaptation, and the quiet courage to keep moving forward. While the condition can range from a cosmetic concern to a marker of deeper systemic disease, the lived experiences of patients reveal far more than any clinical description can capture.

In this section, we spotlight remarkable individuals who have turned challenges into strength. Their stories illuminate the realities of navigating symptoms, seeking answers, finding the right care, and reclaiming confidence. These journeys not only inspire but also remind us why continued research, awareness, and compassionate support matter.

Sabrina Marie Vera

My name is Sabrina Marie Vera, I’m a proud first-generation graduate of Pomona College, Puerto Rican woman, and survivor of Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic and deadly blood disease. My family and I suffer from HHT, which took the life of my older brother Robert 15 years ago. HHT causes malformed blood vessels throughout the body that cause sudden and extreme bleeding, both internally and externally, and can lead to brain hemorrhage, strokes, and heart failure. One of the first signs of HHT is nosebleeds. Even though some patients report never suffering from nosebleeds, I bleed from my nose at least twice a day and have been hospitalized in the past due to extreme blood loss. One in every 5,000 people has HHT, which is about 1.4 million people worldwide or 0.025% of the world’s population. My grandmother, mother, all of her siblings, my brother, cousins and I are all members of that 0.025% suffering from HHT, which never skips a generation. My family also suffers from HHT type one, the worst genetic mutation form of HHT.

At least 40% of people with HHT have pulmonary arteriovenous malformations (AVMs), which must be coiled to keep them from growing and erupting. Earlier this year, I was on a plane home from Puerto Rico, and while the plane was landing and the pressure was changing, I felt a very sharp pain in my lungs. Days passed and I felt like I couldn’t breathe, my heart was racing, and my chest plate was swollen and sore. I went to the doctor thinking it was anxiety or, even worse, possible breast cancer, but he immediately sent me to get my lungs scanned. Deep down, I had a feeling it was my AVMs, but I was a bit in denial out of fear of surgery. That same night my doctor called me and told me I needed lung surgery immediately. I was about three days away from flying back to Pomona to start my final semester of college, so I hesitated. “Sabrina, if we wait on doing this surgery, you won’t be walking across the stage this Spring.” I was told I had an AVM with a feeding artery and three AVMs that were approaching 10 mm. For reference, AVMs are flagged for surgery at about 3 mm. At that moment, I couldn’t help but cry. I wanted to put my education before my health and my life, which is something I think a lot of students with disabilities, especially first-gen, low-income students of color, tend to do. Two days later I headed into surgery. The procedure calls for patients to be partially awake to breathe in when they coil the AVMs. I felt them moving around inside the depths of my chest, it’s a feeling I will never forget. Once I came through, I immediately cried, vomited, and bled from my nose while my sister held me. It was really overwhelming; I felt absolutely terrible. But, the surgery was successful, and for that, I am eternally grateful.

My brother Robert passed away from a ruptured cerebral AVM. I remember how his brain scan lit up like a Christmas tree, each dot representing an AVM scattered throughout sensitive parts of his developing brain, from his memory to his motor skills. A surgery for him was extremely risky at the time due to a lack of research and resources. My cousin Pricilla who also has AVMs in her brain underwent the surgery and came out of it confined to a wheelchair and partially blind. So, of course, my brother, a teenage boy who wanted to live life to the fullest, was hesitant. Unfortunately, Robert spent the last months of his life in immense pain, from brutal headaches to gut-wrenching seizures every day, until June 9th, 2005, when he passed away.

Three years after Robert died, doctors found AVMs in my brain and liver. I remember the silence in the room when the doctor told my mother about my brain, followed by her crying at the possibility of reliving the same nightmare with me. However, I have been extremely blessed. My cerebral AVMs, unlike my brother’s, are growing at a rate that I can monitor. When I scanned my lungs this year, I also scanned my brain. Two of my AVMs are still small, and one is about 6 mm. As most people with rare diseases can attest, my doctor was unsure what to do because “it’s just not that common,” which is true. Cerebral AVMs affect less than 1% of the world’s population. Doctors are unsure if it’s worth coiling my larger cerebral AVM because of its location. “I worry about that AVM because it’s growing in your frontal lobe, right around the area that is most responsible for controlling your personality.” I couldn’t help but let out a cynical giggle. The very core of my personality – being a survivor and advocate for HHT – is now being threatened by HHT. Life is full of many moments of comical irony, the type of irony that makes every deep breath a bit sweeter.

I have been feeling so much better since my surgery, and I am keeping close tabs on my brain. Sure, I bleed from my nose every day and have had moments when I’m eating and bam! – blood in my soup! Or on my favorite shirt. Or even sometimes on my homework. Every red drop of blood and bloodstain is simply another potent reminder of HHT, the hidden killer that makes appearances that are oftentimes subtle. Maybe in the form of Telangiectasia (small red spots) on your tongue. But sometimes, HHT is not subtle at all. HHT is more than nosebleeds; it’s a brain scan that leaves your mother in somber shock, it’s the news from the ER that your seventeen-year-old son didn’t make it, it’s the sobering reality that you may not be able to have kids. Sometimes, it’s nothing at all: 90% of people with HHT are undiagnosed. I’ve learned that’s sort of the calling card of rare diseases: we don’t know what to expect, there’s simply not enough information and oftentimes patients are left in the dark. It usually takes something tragic to catalyze concrete change for patients. After my brother’s death, there were HHT conferences held in his name, an abundance of research was conducted, they improved the surgical procedures for coiling all organs, and June was named the national HHT Awareness month. We’ve come a long way as a community of blood sisters and brothers united by common occurrences like going through a box of tissues in five days. But, as they say in the community of people with a rare disease: alone we are rare, but together, we are strong.

Maleny Morfen

As a former lawyer and a professional musician, I always thought I was kind of healthy. I say kind of because I’ve always had bad headaches, got tired easily and sometimes was so pale, but who cares, right? I just got used to it.

About six months later I had a bad headache while having dinner with a friend, but for the first time ever I completely forgot how to speak for a couple of seconds; then I freaked out.

The next day I went to see a neurosurgeon who requested some tests. She said that I had a really bad migraine that was causing episodes of epilepsy without convulsions, it was a “petite mal” kind of epilepsy. The doctor sent me a medicine to treat migraines and epilepsy which I was supposed to take for 2 years. The medicine made me be even more tired. I had hair-loss and gained a couple of pounds while the migraines continued to get worse. The doctor kept telling me I needed to take the medication or otherwise I’d get worse, so after 10 months of trying and taking the meds I finally decided to change doctors

I went to see a neurologist who on the first consultation told me that my headaches were not migraines. He said that the kind of pain I had was very particular and very similar to the one people with a congenital heart problem had called Patent foramen ovale.

So, I had a bubble echocardiogram done, which showed many bubbles going through, so the cardiologist who made the test said I had a patent foramen ovale (PFO).

Then I went to see a cardiologist specialized in treating PFOs, he studied the results of the bubble echocardiogram and said I had a big PFO which needed to get closed with a device called Amplatzer PFO Occluder.

While the doctors said everything was fine I just couldn’t sleep that night at the hospital, something was wrong.

The next morning, while leaving the hospital I called my neurologist to update him. He said it was a weird situation so he requested a transcranial doppler test, to see if there were bubbles going through my head. They did, there were many bubbles, actually.

The next step was to get MRAs with contrast for my thorax and head to see what was going on and… Bingo!

There was an AVM on my liver and many small ones on my lungs.

The doctors involved in these tests didn’t know about Hereditary Hemorrhagic Telangiectasia (HHT) nor the cause of my AVMs, but they consulted with various doctors and the possible diagnosis of HHT came up.

With all the results in hand, I went to see a great hematologist who fortunately knew plenty about HHT. He requested more tests and he was the one who integrated the final diagnosis of HHT. This doctor was also intelligent and kind, so he walked me through the disease, detailed possible emergency scenarios, told me how to take care of myself and how to avoid and treat anemia, he also referred me to other specialists to check and possibly treat my AVMs.

Before seeing this great hematologist, I went to see another hematologist who was recommended by the other doctor I was seeing. This was a really bad experience since she had no idea about what Hereditary Hemorrhagic Telangiectasia was and started to make up stupid things like people with HHT don’t grow enough (while I’m 5’10), and that they have one arm shorter than the other and other nonsense stuff.

Today I’m in the lucky 10% of people with HHT who do have a diagnosis.

Before, I had lived my whole life taking risks while being unaware of my condition, doing things like practicing karate and basketball when I was younger, or more recently, doing rock climbing, hiking up temples in Japan and even tried parachuting.

I’m grateful for the doctors who helped me get the diagnosis of HHT, as well as my family and great friends who have supported me through all this. But I’ve also met doctors who have no idea about the disease and I myself had lived my whole life without knowing I have this condition, until last month.

I went through some crazy stuff before getting the right diagnosis, so I’m sharing my story with the intention of raising awareness about HHT as well as letting other people with HHT know that they are not alone.

Advances in haematological care are paving the way for managing conditions like Telangiectasia and helping patients like Sabrina Marie Vera and Maleny Morfen the symptoms with confidence

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