Hereditary hemorrhagic telangiectasia—also called Osler-Weber-Rendu disease—is a rare, lifelong, inherited condition that makes some blood vessels grow in an unusual way. Instead of a normal tiny capillary connecting an artery to a vein, people with HHT often develop fragile “short-cuts” called telangiectasias (tiny) or arteriovenous malformations/AVMs (larger). Because these vessels are thin-walled and under high pressure, they break or leak easily, leading to frequent nosebleeds, skin spots, and internal bleeding. HHT is autosomal dominant, meaning one changed (mutated) gene copy from either parent is enough to cause the disorder. About one person in every 5,000–8,000 is affected worldwide, but many are not diagnosed until later in life.mayoclinic.orgncbi.nlm.nih.gov
Hereditary hemorrhagic telangiectasia is a genetic blood-vessel disorder. One misspelled gene (ENG, ACVRL1/ALK-1, or SMAD4 in most families) leaves blood-vessel walls thin and fragile. Instead of sturdy capillaries, people grow little red dots called telangiectasias and bigger shortcuts called arteriovenous malformations (AVMs). Nose, skin, gut, lungs, liver, and brain are the usual targets. Bleeding, low iron, shortness of breath, strokes, and heart strain follow if the fragile vessels burst or shunt blood the wrong way. HHT is autosomal-dominant, so each child of an affected parent has a 50 % chance of inheriting it. Average diagnosis takes ten years because early nosebleeds look “ordinary.” ncbi.nlm.nih.govncbi.nlm.nih.gov
HHT is a genetic blood-vessel disorder in which the “plumbing” that usually slows blood flow is partly missing. Picture a garden hose (artery) connected straight to a drainpipe (vein) without a sprinkler head (capillary). The water rushes through too fast, eroding the pipe walls and spilling where it shouldn’t. In the body, that spill becomes a nosebleed, stomach bleed, or hidden internal bleed that may steal iron, lower oxygen, or let tiny clots or germs slip through and injure the lungs, brain, or other organs. Doctors diagnose HHT when people have the Curacao clinical criteria (repeated nosebleeds, visible telangiectasias on skin or mucosa, affected first-degree relative, or visceral AVMs) or when a disease-causing gene mutation is confirmed in a lab test. International guidelines urge early screening so dangerous silent AVMs in the lungs, liver, or brain can be found and treated before they cause stroke or life-threatening bleeding.hhtguidelines.orgvascern.eu
The Main Genetic Types of HHT
HHT Type 1 (ENG-related). A change in the ENG gene on chromosome 9 reduces endoglin protein, upsetting vessel repair; pulmonary and brain AVMs are especially common.pmc.ncbi.nlm.nih.gov
HHT Type 2 (ACVRL1/ALK-1-related). A mutation in ACVRL1 on chromosome 12 weakens a signaling receptor that keeps vessels stable. Liver AVMs and high-output heart failure are more frequent here.pmc.ncbi.nlm.nih.gov
HHT Type 3 (locus 5q31). The exact gene is still unknown, but families linked to chromosome 5 share classic HHT features with variable severity.haematologica.org
HHT Type 4 (locus 7p14). Also gene-unknown; this subtype is rare and under study; symptoms mimic types 1 and 2.haematologica.org
HHT Type 5 / Juvenile Polyposis–HHT Overlap (SMAD4-related). Changes in SMAD4 can cause both HHT and multiple juvenile gut polyps, raising bowel-cancer risk; early colon screening is vital.ujms.net
Other Emerging or Modifier Genes. New research hints at additional genes and “modifier” variants that may explain why bleeding severity differs even inside one family; these studies are ongoing.ahajournals.org
Possible Causes
Although one disease-causing gene is the root cause, many extra factors can tip the balance and spark bleeding or complications:
ENG mutation lowers endoglin in vessel walls, the key structural defect in HHT 1.
ACVRL1 mutation disturbs ALK-1, disrupting blood-flow-sensing pathways in HHT 2.
SMAD4 mutation blocks downstream TGF-β signaling, combining vascular and gut-polyp problems.
Still-unknown loci (HHT 3 & 4) likely alter similar vessel-growth pathways.
Hormonal shifts (pregnancy, puberty) increase blood volume and pressure in fragile vessels.
Uncontrolled high blood pressure pushes more force through weak AVM walls.
Repeated nasal trauma (nose-picking, dry air) cracks thin mucosal telangiectasias.
Iron-deficiency anemia itself magnifies bleeding risk by making vessels more brittle.
Chronic liver disease boosts portal pressure, swelling hepatic AVMs.
Chronic cough or sneezing spikes venous pressure, bursting nose or lung lesions.
Anticoagulant or antiplatelet medication hampers clot sealing after minor bleeds.
Excess alcohol dilates vessels and thins clotting factors.
Estrogen deficiency post-menopause may slow vessel healing.
High-altitude hypoxia widens pulmonary vessels, unmasking shunts.
Infections or sepsis inflame vessel lining, worsening leaks.
Oxidative stress from smoking damages the fragile capillary interface.
Mechanical liver strain in pregnancy can provoke hepatic AVM-driven heart failure.
Obstructive sleep apnea surges in nighttime blood pressure, raising epistaxis frequency.
Genetic “modifier” polymorphisms in VEGF or eNOS genes may amplify lesion growth.
Age-related vessel wear-and-tear adds fragility, so nosebleeds often intensify with decades.emedicine.medscape.commy.clevelandclinic.org
Common and Less-Common Symptoms
Spontaneous, recurrent nosebleeds. The hallmark; ranging from dab on tissue to severe nightly floods.
Red to purple pinpoint skin spots on lips, tongue, fingers, or face, which blanch when pressed.
Gastro-intestinal (GI) bleeding causing dark stools or hidden blood picked up on stool testing.
Chronic iron-deficiency anemia leading to paleness, dizziness, and craving ice or clay.
Shortness of breath from lung AVMs that steal oxygen or cause shunting.
Fatigue linked to low hemoglobin or heart strain from high-output failure.
Headaches or seizures from brain AVMs or small strokes.
Stroke or brain abscess when unfiltered clots/germs bypass lungs via AVMs.
Coughing up blood (hemoptysis) in large pulmonary telangiectasias.
Heart palpitations because high-output circulation over-works the heart.
Swollen belly (hepatomegaly) from liver AVMs or heart congestion.
Leg swelling or varicose veins in high-flow shunt states.
Visible conjunctival telangiectasias giving “bloodshot” eyes.
Back pain or weakness when spinal AVMs press on nerves.
Unexplained fainting due to sudden bleed or low oxygen.
Loud whooshing heart murmur when blood rushes through an AVM.
Weight loss from slow but steady gut bleeding.
Dark urine or kidney pain from rare renal AVMs.
Skin ulcer that bleeds easily at telangiectatic sites, especially on hands.
Anxiety or reduced quality of life caused by unpredictable bleeding spells.mayoclinic.orgmy.clevelandclinic.org
Diagnostic Tests With Simple Explanations
A. Physical-Exam–Based Tests
Full skin inspection. Doctor looks for tiny red dots on lips, tongue, face, hands—first visual clue to HHT.
Anterior rhinoscopy. Bright light and nasal speculum reveal fragile telangiectasias inside the nose.
Oral cavity and throat exam. Helps spot lesions on palate or gums that bleed after brushing teeth.
Conjunctival exam. Simple penlight search for red spider-like vessels in the white of the eye.
Cardiac auscultation. A loud, continuous “machinery” murmur may suggest a large lung or liver AVM.
Abdominal palpation and auscultation. Detects enlarged pulsating liver or a bruit over it.
Digital clubbing assessment. Bulbous finger tips hint at chronic low oxygen from lung shunts.
Postural vital-sign check. Drop in blood pressure when standing can signal hidden blood loss.emedicine.medscape.com
B. Manual Tests & Bedside Maneuvers
Nasal compression test. Gentle side-to-side squeeze determines how easily bleeding starts/stops.
Finger-blanch “diascopy.” Pressing a lens or finger on a red dot—if it disappears then reappears, it is a telangiectasia.
Capillary-refill test. Sluggish refill (>2 s) may indicate anemia from chronic loss.
Allen test. Compressing wrist arteries probes for abnormal collateral flow that could be influenced by vascular malformations.
Trendelenburg leg test. Elevate and lower leg while watching vein filling—abnormal pattern hints at high-flow shunts.
Valsalva maneuver. Bearing down transiently enlarges murmur if a right-to-left shunt exists.
Hepato-jugular reflux. Sustained abdominal pressure raises neck veins in high-output heart failure caused by hepatic AVM.
Tilt-table test. Evaluates dizziness/faintness that may stem from low blood volume or shunt-related autonomic issues.hhtguidelines.org
C. Laboratory & Pathological Tests
Complete blood count (CBC). Reveals low hemoglobin or low ferritin stores from chronic bleeding.
Serum iron studies. Low iron, high transferrin saturation confirm iron-deficiency anemia.
Fecal occult blood test. Detects hidden GI bleeding before it becomes obvious.
Prothrombin time (PT/INR) and aPTT. Ensures clotting isn’t impaired by medicine or liver AVM.
Liver-function panel. Elevated enzymes or bilirubin signal congestive hepatopathy from liver AVMs.
Serum creatinine & eGFR. Screens kidney health, important before contrast imaging.
Genetic sequencing of ENG, ACVRL1, SMAD4. Confirms subtype; allows family testing and precise counseling.
Pathology of GI mucosa (biopsy). Shows dilated submucosal vessels when endoscopy samples a bleeding site.ncbi.nlm.nih.govmayoclinic.org
D. Electro-Diagnostic & Physiologic Tests
Pulse oximetry at rest and with exercise. Quick screen for silent lung AVMs that drop oxygen saturation.
Standard 12-lead ECG. Looks for heart-strain patterns from high-output circulation.
Bubble-contrast transthoracic echocardiogram. Agitated saline is injected; bubbles in left heart within 3 beats show right-to-left shunt through pulmonary AVM.
Transcranial Doppler with bubble study. Detects cerebral micro-emboli passing through lung shunts.
Ambulatory Holter monitor. Records palpitations due to high-output state or anemia.
Electroencephalogram (EEG). Evaluates seizures that might stem from brain AVM bleeds.
Nerve-conduction studies. Rarely, spinal AVMs compress nerves, causing weakness measured here.
Auditory brainstem response. Helpful if hearing loss hints at vestibular AVM.ahajournals.orgmy.clevelandclinic.org
E. Imaging & Endoscopic Tests
High-resolution chest CT angiography. Gold standard to spot and size lung AVMs before embolization.
Brain MRI/MRA. Non-invasive scan pinpoints cerebral or spinal AVMs and guides neurosurgery.
Abdominal Doppler ultrasound. Finds large hepatic AVMs; shows increased hepatic artery flow.
Contrast-enhanced liver CT or MRI. Maps vascular anatomy to predict heart-failure risk.
Capsule endoscopy. Swallowed camera photographs small-bowel telangiectasias missed by standard scopes.
Upper GI endoscopy (esophagogastroduodenoscopy). Directly visualizes and treats stomach and duodenal bleeding sites.
Colonoscopy. Checks colon and terminal ileum for vascular malformations and polyps (important in SMAD4 overlap).
Spinal-cord MRI. Used when back pain, tingling, or weakness suggest possible spinal AVM.emedicine.medscape.commayoclinic.org
Non-Pharmacological Treatments
Below are hands-on or at-home options. Each paragraph names the method in bold, then explains the purpose and how it works.
Physiotherapy & Electro-therapy
Saline Nasal Irrigation & Bedside Humidifier – Rinsing with saltwater mist and sleeping in moist air keeps the nasal lining soft, so crusts crack less and bleeding drops. pmc.ncbi.nlm.nih.govhhtguidelines.org
Warm Steam Inhalation – Five-minute bowls of steam twice daily loosen clots and hydrate mucosa; warmth dilates tiny vessels at first but later reduces crust-triggered bleeds.
Low-Level Laser (Cold-Laser) Phototherapy – Gentle red-light beams (≤1 W) stimulate collagen repair in telangiectasias without burning tissue.
Infra-red Contact Coagulation (Office-Based) – A handheld heated probe briefly touches a bleeding spot; heat seals the vessel—useful when surgery is not yet needed. curehht.org
Pulsed Short-Wave Diathermy to Facial Skin – Low-energy radio-waves warm deep capillaries, promoting circulation and clearing bruising after large nosebleeds.
Cryotherapy Swabs – 10-second cotton-tipped applicators chilled to –20 °C constrict vessels and stop minor bleeds without drugs.
High-Flow Warmed Humidified Oxygen – Hospital device delivers 30-60 L/min 37 °C air/oxygen; warmth plus flow prevents dryness during acute bleeds.
Trans-cutaneous Electrical Nerve Stimulation (TENS) – Pads over cheekbones give mild pulses that distract pain pathways when recurrent packing causes face ache.
Hyperbaric Oxygen Therapy – Two-hour sessions at 2 ATA improve chronic skin ulcer healing by driving oxygen into ischemic telangiectatic tissue.
Coblation Micro-debridement – Low-temperature plasma wand smooths bulky nasal telangiectasias; classed here because it is energy-based, not pharmacologic. curehht.org
Negative-Pressure Wound Therapy – Small suction dressings used on rare skin AVM ulcers draw fluid out and trigger granulation.
Manual Pinch & Lean-Forward Technique – Teaching correct first-aid (pinch soft nostrils 10 min, lean forward) prevents swallowed blood and quickens clotting.
Absorbable Gelatin Nasal Packing – A physiotherapist or nurse can place gelatin foam; it swells with blood, applying pressure while dissolving over days.
Contrast Cold-Warm Compress Cycling – Alternating warm (to open) then cool (to close) nasal bridge cloths daily strengthens capillary reflexes.
Postural Drainage & Pursed-Lip Breathing – Simple chest physio reduces breathlessness when AVMs shunt blood in lungs.
Exercise Therapies
Moderate-Pace Walking Program – 30 minutes, five days a week, raises red-cell mass by natural erythropoietin stimulation and counters fatigue.
Light Resistance-Band Workouts – Two sets of 10–15 reps, three times weekly, preserve muscle and bone when anemia limits heavy weights.
Interval Training with Oximeter – Short bursts of cycling monitored with a fingertip oximeter teach safe exertion limits for people with lung AVMs.
Pool-Based Swimming – Humid air plus water support cut joint stress and keep nasal passages moist, cutting nosebleed risk.
Daily Stretching Routine – Ten-minute stretches ease restless legs linked to iron deficiency, improving sleep. curehht.org
Mind–Body Therapies
Mindfulness Meditation – 15-minute guided sessions lower stress hormones which otherwise dilate fragile vessels.
Gentle Yoga (e.g., Hatha) – Slow poses avoid head-down pressure yet improve breathing, circulation, and mood.
Tai Chi / Qigong – Flowing movements enhance balance and calm, useful when dizziness follows bleeds.
Guided Imagery & Abdominal Breathing – Visualizing clot formation plus slow diaphragmatic breaths reduce panic during active epistaxis.
Music Therapy Before Procedures – Headphones with calming tracks cut heart rate so cauterization bleeds less.
Educational Self-Management
Bleed & Trigger Diary – Patients jot time, duration, food, or activities; spotting patterns empowers prevention.
Iron-Rich Diet Counseling – Teaching about lean red meat, legumes, and vitamin C pairing maintains ferritin without transfusion. curehht.org
Genetic & Family Counseling Sessions – Relatives learn inheritance risk and screening; early AVM repair saves lives. hhtguidelines.org
Daily Nasal-Care Lessons – Nurses show correct saline spray angle, petroleum-free gels, and humidifier cleaning to prevent infection.
Emergency Action-Plan Training – Written steps and emergency numbers reduce fear and speed help during severe bleeds or stroke signs.
Key Drugs for HHT
(Always prescribed by an HHT-experienced clinician; doses are adult averages.)
1. Intravenous Bevacizumab (Anti-VEGF antibody) – 5–10 mg/kg every 2 weeks × 4, then monthly; shrinks GI and nasal telangiectasias, lifts hemoglobin; watch for hypertension, proteinuria. pmc.ncbi.nlm.nih.govhaematologica.org
2. Topical Intranasal Bevacizumab – 25 mg in 15 mL saline sprayed twice daily for 12 weeks; local VEGF blockade with fewer systemic effects; temporary nasal dryness possible. pmc.ncbi.nlm.nih.gov
3. Thalidomide (Immunomodulator) – 50 mg nightly, raise to 100 mg after 2 weeks; promotes vessel maturity; drowsiness, neuropathy, teratogenic—strict pregnancy rule. pmc.ncbi.nlm.nih.govpubmed.ncbi.nlm.nih.gov
4. Lenalidomide – 5–10 mg nightly for refractory bleeding; similar action to thalidomide but less neuropathy; risk of VTE.
5. Tranexamic Acid (Antifibrinolytic) – 1 g orally 3 ×/day or 500 mg nasal spray; stabilizes clots; nausea or rare thrombosis. pubmed.ncbi.nlm.nih.gov
6. Epsilon-Aminocaproic Acid – 2–4 g every 6 h IV or oral; alternative when tranexamic unavailable; muscle cramps possible.
7. Estrogen–Progesterone Nasal Spray – 0.1 mg estriol + 0.025 mg norethisterone nightly; thickens mucosa; mild breast tenderness.
8. Tamoxifen (Selective Estrogen Receptor Modulator) – 20 mg daily; reduces nosebleed scores; hot flashes, leg cramps.
9. Octreotide (Somatostatin Analog) – 50 µg subcut twice daily or long-acting 20 mg i.m. monthly; lowers splanchnic flow so GI bleeds fall; gallstones possible.
10. Pazopanib (Oral Multi-kinase VEGF inhibitor) – 400 mg daily in trials; targets systemic AVMs; monitor liver enzymes.
11. Sirolimus (mTOR inhibitor) – 1 mg daily; anti-angiogenic and immune modulation; mouth ulcers, hyperlipidemia.
12. Nintedanib – 150 mg twice daily being studied; blocks angiogenic FGF/PDGF; diarrhea most frequent.
13. Sorafenib – 200 mg twice daily; multi-kinase block; hand-foot skin reactions.
14. Aflibercept (VEGF-Trap) – 4 mg intra-nasal monthly in early reports; binds VEGF-A/B; transient burning.
15. Losartan (AT-1 blocker, TGF-β pathway) – 50 mg daily; may normalize ENG/ALK-1 signaling; dizziness.
16. Propranolol 0.5 % Topical Gel – pea-size to nostrils twice daily; vasoconstricts; rare bradycardia if absorbed.
17. Carvedilol 0.5 % Ointment – similar to propranolol but α-blocking relaxes mucosa; local irritation.
18. Doxycycline (MMP-9 inhibitor) – 100 mg twice daily 3 months; reduces matrix breakdown; photosensitivity.
19. Ethamsylate (Capillary stabilizer) – 250 mg three times daily; boosts platelet adhesion; headache.
20. Oral Ferrous Sulfate – 325 mg (65 mg elemental iron) once or twice daily with vitamin C; rebuilds stores; dark stools, constipation. curehht.org
Dietary Molecular Supplements
(Consult a physician before starting; dosages are adult general ranges.)
Iron Bis-glycinate (25 mg elemental, twice daily) – Gentle on stomach, replenishes ferritin and hemoglobin. curehht.org
Vitamin C (500 mg with iron doses) – Converts ferric → ferrous iron, boosting absorption and collagen repair.
Vitamin K2 (100 µg/day) – Improves clotting factor activation, may shorten small bleeds.
Omega-3 Fish Oil (1 g EPA+DHA/day) – Anti-inflammatory, supports endothelial health; stop 5 days pre-surgery because of mild anti-platelet effect.
L-Lysine (1 g twice daily) – Enhances collagen cross-linking in vessel walls.
Curcumin (500 mg twice daily) – Natural NF-κB blocker, dampens abnormal angiogenic signals.
Quercetin (250 mg twice daily) – Plant flavonoid that stabilizes capillaries by inhibiting VEGF-induced permeability.
Collagen Peptides (10 g powder daily) – Supplies amino acids for vessel basement membrane.
Probiotic Blend (≥10 billion CFU/day) – Better gut barrier lowers endotoxin-triggered vascular inflammation.
Spirulina (2 g/day) – Rich in iron, B-vitamins, and antioxidants supporting red-cell recovery.
Advanced or Experimental “Device-Type” Drugs
(Bisphosphonate, regenerative, viscosupplementation & stem-cell categories)
Zoledronic Acid (Bisphosphonate, 5 mg IV yearly) – Potent anti-angiogenic side action may shrink bone AVMs; monitor jaw osteonecrosis.
Alendronate (70 mg weekly) – Oral alternative for the same theoretical vessel-stabilizing effect.
Platelet-Rich Plasma (PRP) Nasal Injection – Patient’s own growth-factor concentrate accelerates mucosal healing; done monthly in pilot studies.
Autologous Mesenchymal Stem-Cell Infusion (1 × 10⁶ cells/kg) – Early trials aim to re-seed healthy endothelium; fever and transient hypertension reported.
Endothelial Progenitor Cell Spray – Lab-expanded CD34+ cells delivered into nose under local anesthesia to rebuild fragile capillaries.
Gene-Corrected iPSC-Derived Vascular Grafts – Skin cells re-programmed, CRISPR-repaired, grown into patches for large AVM surgery; still experimental.
Hyaluronic Acid 0.2 % Nasal Gel (Viscosupplement) – Thick gel coats septum, reducing friction and bleed chance for 8 hours.
Cross-linked Carboxymethylcellulose Nasal Insert – Forms soft shield over telangiectasias; dissolves over 72 h.
Chitosan-Based Hemostatic Sponge – Marine polysaccharide quickly seals wet surfaces inside nose; biodegrades in days.
Stem-Cell–Loaded Hydrogel Microspheres – Slow-release VEGF modulators plus MSCs implanted around stubborn skin AVMs in research settings.
Surgical or Interventional Procedures
Nasal Laser Photocoagulation (KTP, Nd:YAG or diode) – Out-patient; laser heat seals individual telangiectasias, offering months of relief with minimal crusting. curehht.org
Septodermoplasty – Surgeon replaces friable septal mucosa with split-thickness skin graft; bleeds drop 50–70 %. journalotohns.biomedcentral.com
Modified Young’s Nasal Closure – Permanent suturing of nostril rims stops airflow-dryness cycle, eliminating epistaxis but sacrifices nasal breathing. curehht.orgpubmed.ncbi.nlm.nih.gov
Coblation-Assisted Ablation – Low-temp plasma wand vaporizes wider telangiectasia fields with less surrounding burn.
Argon Plasma Coagulation (GI Endoscopy) – Non-contact plasma jet cauterizes stomach/duodenal lesions during scope; anemia improves.
Pulmonary AVM Coil or Plug Embolization – Interventional radiologist threads a catheter to lung AVM and drops coils/plugs, preventing stroke and brain abscess. pmc.ncbi.nlm.nih.govjvir.org
Hepatic Artery Embolization – Blocks high-flow shunts that cause heart failure; staged approach lowers liver-failure risk.
Liver Transplantation – Curative for severe hepatic AVMs with heart failure or bile duct infection; five-year survival >80 %. pmc.ncbi.nlm.nih.govsciencedirect.com
Lung Transplantation – Option for diffuse, untreatable pulmonary AVMs and end-stage hypoxemia. pmc.ncbi.nlm.nih.gov
Stereotactic Radiosurgery for Brain AVMs – Focused gamma-ray beam obliterates small deep malformations avoiding open skull surgery.
Practical Prevention Tips
Keep nasal lining wet (saline sprays, humidifier).
Avoid nose picking, hard blowing, or heavy sneezing. pmc.ncbi.nlm.nih.govhaematologica.org
Skip blood-thinning drugs unless prescribed (aspirin, ibuprofen, high-dose fish oil). mayoclinic.org
Track and limit foods that trigger bleeds (blueberries, red wine, dark chocolate, spicy dishes). mayoclinic.org
Use protective headgear during sports to avoid nasal trauma.
Stay hydrated; dry mucosa cracks more easily.
Treat colds early with gentle saline, not decongestant over-use.
Prenatal screening for lung and brain AVMs before planning pregnancy. curehht.orgncbi.nlm.nih.gov
Annual hemoglobin and iron-store checks.
Family members of known HHT patients should request genetic counseling.
When to See a Doctor Immediately
Nosebleed lasting >20 minutes despite proper pressure.
Sudden severe headache, seizure, or weakness (possible brain AVM rupture).
Crushing chest pain or new breathlessness (lung or liver AVM complications).
Dark or bloody stool, vomiting blood.
Pregnancy with untreated AVMs or new shortness of breath.
Early expert care prevents life-threatening strokes, heart failure, or anemia.
Do & Avoid” Guidelines
Do apply petrolatum-free gel nightly; Avoid petroleum jelly if you use nasal oxygen (fire risk).
Do use gentle, pH-balanced soaps; Avoid alcohol-heavy nostril wipes.
Do eat iron-rich, vitamin-C-paired meals; Avoid chronic antacid overuse that blocks iron uptake.
Do schedule regular AVM screening MRIs/CTs; Avoid skipping follow-ups even when you feel well.
Do keep blood-pressure controlled; Avoid extreme weight-lifting spikes.
Do humidify airplane or air-conditioned environments (portable saline spray); Avoid long flights without hydration.
Do mention HHT to every new doctor; Avoid surprise anticoagulation without bleed-risk talk.
Do practice relaxation methods; Avoid chronic unmanaged stress.
Do protect nose during sports; Avoid high-impact martial arts without face guard.
Do log every bleed; Avoid “toughing it out” when anemia symptoms creep in.
Frequently Asked Questions
1. Is HHT contagious?
No. It is an inherited genetic change, not an infection.
2. Will every carrier get symptoms?
Penetrance is high, but severity varies; some people have only mild nosebleeds.
3. Can children be tested?
Yes—gene testing or periodic scans find treatable AVMs early, often before age ten.
4. Why do nosebleeds start in teenage years?
Hormonal growth spurts thin vessel walls further, revealing the hidden mutation.
5. Do iron pills stop bleeds?
Iron does not stop bleeding but rebuilds red cells so fatigue and dizziness fade.
6. Are anti-VEGF drugs safe long term?
Data show months-to-years of benefit; blood-pressure checks and kidney tests keep therapy safe. pmc.ncbi.nlm.nih.gov
7. What happens during pregnancy?
Extra blood volume can stress untreated lung AVMs; screening and embolization before conception reduce risk. curehht.org
8. Can diet cure HHT?
Diet can lower triggers and fix anemia but cannot change the genes. Treatment often needs a mix of methods.
9. Is nose cautery painful?
Local anesthetic gel numbs the area; most patients feel pressure and warmth only.
10. Do all AVMs need surgery?
No. Small stable brain or lung AVMs may just be watched; doctors balance rupture risk against procedure risk.
11. How often should I check hemoglobin?
Every 3–6 months, or sooner if bleeds increase.
12. Will humidifiers grow mold?
Clean them with 1 : 1 vinegar weekly; replace filters monthly to avoid irritants.
13. Can children with HHT play sports?
Yes—non-contact sports are fine; nose guards protect during higher risk games.
14. Is there a cure on the horizon?
Gene-editing stem-cell studies are promising but still experimental (see section 5).
15. Where can I find specialists?
CureHHT.org lists centers of excellence worldwide; seeing an HHT team speeds proper care.
Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.
The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members
Last Updated: June 26, 2025.
