Capillary Malformation–Arteriovenous Malformation 1 (CM-AVM1)

Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a genetic condition that changes how some blood vessels grow and connect. People are born with it. Small red-pink skin marks (capillary malformations) are common. Some people also have fast-flow blood vessel problems called arteriovenous malformations (AVMs) or arteriovenous fistulas (AVFs). “Fast-flow” means blood moves quickly from arteries to veins with little or no capillary bed in between. These deeper lesions can happen in the skin, muscles, bones, spine, or brain. CM-AVM1 is usually passed down in families in an autosomal dominant way (one changed gene copy is enough), but it can also appear for the first time in a child. The main gene linked to CM-AVM1 is RASA1. A closely related condition, CM-AVM2, is caused by EPHB4; it looks similar but is a different gene. American Heart Association Journals+3NCBI+3Actas Dermo-Sifiliográficas+3

Capillary malformation–arteriovenous malformation 1 (CM-AVM1) is a rare, inherited blood-vessel disorder. People develop many small, round, pink-to-red skin spots called capillary malformations. Some people also form fast-flow lesions deeper in the body, such as arteriovenous malformations (AVMs) or arteriovenous fistulas (AVFs). These fast-flow lesions can affect the skin, face, limbs, brain, spine, or other organs and may bleed, hurt, or grow. CM-AVM1 is autosomal dominant. That means one changed gene copy can cause the condition. The main gene is RASA1. Loss of normal RASA1 function keeps the RAS–MAPK/ERK pathway overactive. This can drive abnormal vessel growth and shunts. Not every person with the gene change has the same signs; even within a family the features vary. Orpha+3NCBI+3Frontiers+3

Other names

• RASA1-related disorder

• RASA1-related capillary malformation–AVM

• CM-AVM (RASA1)

• Fast-flow vascular anomaly due to RASA1

• Parkes Weber spectrum due to RASA1 (when limb overgrowth and many tiny AVFs are present) Orpha+1

Types

1. Cutaneous capillary malformations (CMs).
   Small, round or oval pink-red spots (often 1–2 cm). Many people have several, especially on face and limbs. They may have a pale “halo.” These are slow-flow and usually harmless but signal the syndrome. NCBI

2. Fast-flow AVMs/AVFs in soft tissues (skin, muscle, bone).
   These can throb, feel warm, grow with the person, and sometimes cause pain, bleeding, or high-output heart strain if large. ARUP Consult

3. Cerebral or dural AVMs/AVFs (brain/spine).
   These can present early in life with seizures, headaches, bleeding, or neurologic symptoms; they require careful imaging. ARUP Consult+1

4. Parkes Weber phenotype.
   Fast-flow micro-AVFs throughout a limb with soft-tissue/bone overgrowth, warmth, and sometimes heart strain; can occur within the RASA1 spectrum. Children’s Hospital Los Angeles

5. CM-AVM2 (EPHB4-related).
   Looks similar on the skin but is caused by a different gene (EPHB4). Mentioned here to avoid confusion with CM-AVM1. American Heart Association Journals+1

Causes

1. Pathogenic variants in RASA1 (germline).
   A harmful change in one RASA1 copy reduces RAS-pathway regulation, predisposing to CMs and fast-flow lesions. NCBI

2. Autosomal dominant inheritance.
   Each child of an affected parent has a ~50% chance to inherit the variant. NCBI

3. De novo RASA1 variant.
   The change can arise new in the child even if parents are unaffected. NCBI

4. Second-hit (somatic) events.
   Some lesions develop after a “second hit” in local cells, explaining why not every vessel is abnormal. (Mechanism inferred in many RAS-pathway conditions.) NCBI

5. Mosaicism.
   A parent can carry the variant in some cells only, leading to segmental or milder disease but risk for affected children. NCBI

6. RASA1 loss disrupts p120-RasGAP function.
   Without normal RasGAP, RAS signaling stays “on,” driving abnormal vessel remodeling. NCBI

7. Embryonic vascular patterning errors.
   Abnormal arteriovenous specification during development creates direct artery-to-vein shunts. NCBI

8. Flow-driven enlargement of shunts.
   Once a small shunt forms, high flow can make it expand over time. SpringerOpen

9. Hormonal growth phases.
   Lesions can enlarge during rapid growth (infancy, puberty) due to hemodynamic and growth-factor surges. SpringerOpen

10. Trauma/biopsy triggers.
    Local injury may unmask or accelerate an existing fast-flow focus. (Clinical observation across vascular malformations.) SpringerOpen

11. Pregnancy-related hemodynamic shifts.
    Increased blood volume and hormones can enlarge existing lesions or reveal new symptoms. SpringerOpen

12. Inflammation.
    Inflammatory mediators can raise flow and permeability, worsening symptoms in affected areas. SpringerOpen

13. Co-existing venous anomalies.
    Abnormal venous drainage may increase AVM pressure and growth. SpringerOpen

14. Bone involvement and high-flow.
    Intraosseous AVMs, once present, can expand because bone is highly vascular. SpringerOpen

15. Parkes Weber architecture (many micro-AVFs).
    Thousands of tiny shunts in a limb add up to a major high-flow burden. Children’s Hospital Los Angeles

16. Cerebral/dural venous outflow anomalies.
    Abnormal venous sinuses can stabilize or destabilize brain AVMs. RSNA Publications

17. RASA1 variants with variable expressivity.
    Same family, different severity—due to genetic background and local second hits. NCBI

18. Overlap with EPHB4 pathway biology.
    EPHB4 (CM-AVM2) highlights a shared arteriovenous development pathway; insight helps explain CM-AVM1 features. American Heart Association Journals

19. Prenatal onset in some cases.
    Some AV shunts are detectable before birth, confirming a developmental origin. MDPI

20. Rare craniofacial/vein of Galen associations.
    RASA1 variants have been found in fast-flow malformations like vein of Galen aneurysmal malformation. PubMed

Common symptoms and signs

1. Multiple small pink-red skin spots.
   Often on face/limbs; may have a pale halo; they can slowly darken with age. NCBI

2. Warmth or vibration over a lesion.
   A “thrill” or whooshing sound (bruit) suggests fast flow. SpringerOpen

3. Growing soft tissue mass.
   AVMs can enlarge over time and feel pulsatile. SpringerOpen

4. Pain or tenderness.
   From high flow, pressure, or small bleeds. SpringerOpen

5. Skin color change or ulcer/bleeding.
   Fragile high-flow skin can break down. ARUP Consult

6. Limb overgrowth, warmth, visible veins (Parkes Weber pattern).
   The affected limb may be bigger, heavier, and warmer. Children’s Hospital Los Angeles

7. Easy fatigue with activity.
   Large shunts “steal” blood from tissues and strain the heart. ARUP Consult

8. Shortness of breath or rapid heartbeat in severe cases.
   High-output heart failure can occur with extensive shunts. ARUP Consult

9. Headache or seizures (brain AVM).
   When AVMs are in the brain, neurologic symptoms can occur. AJR Online

10. Sudden neurologic change.
    Weakness, speech problems, or bleeding can signal brain involvement. AJR Online

11. Back pain or leg weakness (spinal AV shunt).
    Spinal AVFs/AVMs may cause progressive neurologic issues. AJR Online

12. Tooth or jaw symptoms if intraosseous.
    Bone AVMs can cause tooth loosening, bleeding, or deformity. SpringerOpen

13. Hearing a whoosh in the ear/head (cranial shunt).
    Pulsatile tinnitus may occur with skull-base/cranial AVMs. RSNA Publications

14. Cosmetic concern and psychosocial distress.
    Visible marks can affect self-image; reassurance and counseling help. Cincinnati Children’s

15. Family history of similar marks or AVMs.
    A parent or close relative may have CMs or fast-flow lesions. NCBI

Diagnostic tests

A) Physical examination

1. Full skin check.
   Count and map capillary malformations; note size, halo, warmth, and any ulcer/bleeding. Multiple small CMs raise suspicion for CM-AVM. NCBI

2. Palpation for thrill and auscultation for bruit.
   A vibration or whoosh suggests an AVM/AVF and not a simple capillary stain. SpringerOpen

3. Limb measurement and temperature.
   Look for asymmetry (length/girth) and warmth suggesting Parkes Weber pattern. Children’s Hospital Los Angeles

4. Neurologic exam.
   Check strength, sensation, reflexes, gait, and cranial nerves if brain/spine AVMs are possible. AJR Online

5. Cardiac and vascular exam.
   Tachycardia, murmurs, bounding pulses, or signs of high-output strain suggest large shunts. ARUP Consult

B) Manual/office tests

6. Handheld Doppler (bedside).
   Detects high-velocity signals and bruit over a lesion—quick screening for fast flow. SpringerOpen

7. Dermatoscopy of CMs.
   Shows dotted/reticular vessels and halo; helps document and follow lesions. Actas Dermo-Sifiliográficas

8. Compression test.
   Gentle pressure may briefly decrease pulsation; quick clinical clue to fast flow (done carefully). SpringerOpen

9. Ankle-brachial or segmental limb pressures (if limb involved).
   Assesses perfusion and distal effects of large shunts. SpringerOpen

10. Functional walk test (6-minute walk).
    Simple measure of exercise tolerance if high-output symptoms are suspected. SpringerOpen

C) Laboratory and pathological tests

11. Genetic testing for RASA1.
    Confirms CM-AVM1. Testing may include sequencing and deletion/duplication analysis; mosaic testing can be considered when suspicion is high but blood test is negative. ARUP Consult

12. EPHB4 testing (to distinguish CM-AVM2).
    If RASA1 is negative, EPHB4 testing helps separate CM-AVM2, which mimics CM-AVM1 but is genetically distinct. American Heart Association Journals

13. CBC, iron studies (contextual).
    Look for anemia from chronic bleeding or hemolysis if there is ulceration or epistaxis; nonspecific but useful clinically. SpringerOpen

14. Biopsy (rare, selective).
    Usually avoided because vascular lesions can bleed; only done when diagnosis is unclear and imaging is inconclusive. SpringerOpen

D) Electrodiagnostic/physiologic tests

15. Duplex Doppler ultrasonography.
    Non-invasive, detects high-velocity arterialized flow and shunts; good for superficial and limb lesions. SpringerOpen

16. Echocardiography.
    Assesses heart function and high-output failure from large AV shunts. ARUP Consult

17. Transcranial Doppler (selected cases).
    Can detect abnormal cerebral flow patterns if screening is needed; complements MRI/MRA. AJR Online

E) Imaging

18. MRI with and without contrast.
    Best overall view for soft tissue, bone marrow, and extent of malformation; distinguishes fast- vs slow-flow patterns and looks for complications. SpringerOpen

19. MR angiography (MRA), including time-resolved MRA.
    Shows arterial feeders, nidus, and venous drainage; time-resolved sequences (e.g., TRICKS) map fast flow accurately. ScienceDirect

20. CT angiography (CTA).
    Rapid vascular map, useful for bone or when MRI is not available; involves radiation and iodinated contrast. AJR Online

21. Digital subtraction angiography (DSA).
    The invasive gold standard when planning treatment; shows detailed feeders/drainers and allows embolization during the same session. AJR Online

22. Brain/spine MRI for at-risk patients.
    Indicated with neurologic symptoms, bruit, or strong family/genetic evidence; detects cerebral/dural/spinal AVMs/AVFs. PubMed Central

23. Skeletal radiographs or CT for bone involvement.
    Identify intraosseous AVMs, cortical thinning, or expansion. SpringerOpen

24. Whole-body screening (tailored).
    Some centers use targeted imaging based on symptoms and exam rather than routine pan-imaging; genetics plus exam guides scope. ARUP Consult

25. Prenatal ultrasound and fetal MRI (selected families).
    Used when there is a known family variant or suggestive signs (e.g., high-output cardiac failure in fetus). MDPI

Non-pharmacological treatments (therapies & others)

1. Multidisciplinary clinic care
   Description. The safest care model is a team that includes dermatology, interventional radiology, plastic/maxillofacial surgery, neurosurgery (if needed), cardiology (if high-output concerns), genetics, and nursing. The team reviews imaging, sets goals (symptom relief, bleeding control, function, appearance), and plans staged treatment to reduce risk of complications and recurrence. Purpose. Coordinate decisions; time procedures; align treatment with patient priorities. Mechanism. Team care reduces fragmented steps, anticipates complications (e.g., ulcer risk, heart strain), and matches the lesion biology to the right tool (laser vs sclerotherapy vs embolization vs surgery). BioMed Central

2. Patient education & trigger avoidance
   Description. Teaching how to watch for warmth, pulsation, swelling, color change, pain spikes, skin breakdown, or new neurologic signs helps catch progression early. Avoid unnecessary trauma to fragile skin; use protective pads for contact areas; treat infections early. Purpose. Early recognition and self-care reduce bleeding and ulceration risk. Mechanism. Behavioral steps lower mechanical and inflammatory stress on fragile vessels; timely reporting prompts imaging or intervention before complications develop. NCBI

3. Compression therapy (for limb lesions)
   Description. Properly fitted compression sleeves or stockings improve venous return, reduce edema, and can ease pain in limb lesions with mixed flow or venous components. Must be prescribed after imaging to confirm safety in fast-flow settings. Purpose. Reduce ache, swelling, and heaviness; protect skin. Mechanism. External pressure diminishes venous congestion and micro-edema, which can reduce local inflammation and pain. Lippincott Journals

4. Wound care for ulcerated lesions
   Description. Use gentle cleansing, moisture-balancing dressings, infection control, and atraumatic dressing changes. Coordinate with interventional treatment if a fast-flow nidus is driving recurrent ulcer. Purpose. Promote healing and prevent infection and bleeding. Mechanism. Moisture balance and protection lower shear stress and bacterial load; treating the hemodynamic driver (e.g., embolization) helps durable closure. BioMed Central

5. Pulsed-dye laser (PDL) for capillary malformations
   Description. PDL targets oxyhemoglobin to fade pink-red skin spots and improve cosmetic appearance. Treatments are spaced weeks apart; multiple sessions are typical. Cooling and proper settings reduce scarring and pigment change. Purpose. Lighten lesions, improve psychosocial well-being, reduce minor bleeding. Mechanism. Selective photothermolysis heats and collapses superficial abnormal vessels while sparing surrounding tissue. PubMed+1

6. Other lasers (Nd:YAG/diode/CO₂, IPL)
   Description. Deeper or resistant lesions may respond to 1064-nm Nd:YAG, diode, or combined approaches; CO₂ can contour mucosal malformations. Intense pulsed light (IPL) may help some patients. Choice depends on depth and color. Purpose. Improve clearance when PDL alone is not enough. Mechanism. Longer wavelengths penetrate deeper vessels; ablative lasers reshape or seal mucosal channels. Anais de Dermatologia+1

7. Pre-procedure planning with MRI/MRA & Doppler
   Description. Before any invasive step, map the nidus, feeders, and drainers, and define flow. Purpose. Lower complications and improve outcomes. Mechanism. Imaging guides catheter access, sclerosant choice, and laser parameters; it also helps stage multi-session therapy. BioMed Central

8. Endovascular embolization (fast-flow AVMs/AVFs)
   Description. Through tiny catheters, doctors deliver embolic agents (e.g., Onyx, coils, glue) into the nidus to slow or stop abnormal shunts. May need repeat sessions. Purpose. Control bleeding, pain, and tissue damage; sometimes downsize lesions before surgery or laser. Mechanism. Occluding shunt pathways reduces high-flow stress, pressure, and hypoxia-reperfusion injury to tissues. SAGE Journals+1

9. Sclerotherapy (selected components)
   Description. For malformations with treatable channels, ultrasound-guided sclerotherapy (e.g., ethanol, polidocanol, STS) damages the vessel lining to close it. Purpose. Reduce size, pain, and oozing; improve function or appearance. Mechanism. Controlled endothelial injury leads to fibrosis and occlusion of abnormal channels. PubMed Central

10. Combined embolo-sclerotherapy
    Description. In some anatomic areas (e.g., hand, face), staged combinations improve control and lower recurrence. Careful dosing and monitoring are essential. Purpose. Maximize occlusion of complex networks with fewer complications. Mechanism. Embolization reduces inflow; sclerotherapy finishes residual channels. Frontiers

11. Surgery after flow control
    Description. When lesions cause tissue destruction or do not respond to endovascular therapy, surgery can remove damaged tissue or the AVM nidus. Best outcomes occur when flow is reduced first by embolization. Purpose. Remove non-viable tissue, control recurrent bleeding, restore function or contour. Mechanism. Debulking after hemodynamic control lowers blood loss and recurrence risk. SAGE Journals

12. Dental/oral lesion management with lasers
    Description. Oral vascular malformations can bleed with dental work. CO₂, Nd:YAG, or diode lasers help shrink or seal lesions, reducing bleeding and improving oral function. Purpose. Safe dental care; reduced hemorrhage. Mechanism. Laser coagulation seals small vessels and remodels mucosa. MDPI

13. Neurologic surveillance and early imaging
    Description. For headaches, seizures, new weakness, vision change, or whooshing sounds, urgent brain/spine MRI/MRA is advised. Purpose. Catch cerebral or spinal AVMs/AVFs early to prevent hemorrhage or neurologic injury. Mechanism. Early detection directs targeted endovascular or surgical care. Belgian Journal of Paediatrics

14. Cardiac monitoring in extensive disease
    Description. Large shunts can drive high-output heart failure. Baseline and follow-up echocardiography may be needed. Purpose. Prevent heart strain and manage fluid status and afterload if needed. Mechanism. Tracking cardiac output guides timing of embolization and systemic support. BioMed Central

15. Skin protection & sun care
    Description. Use gentle cleansers, emollients, and sunscreen. Protect fragile skin with soft clothing and pads. Promptly treat cracks or abrasions. Purpose. Reduce skin breakdown and post-laser pigment changes. Mechanism. Barrier support decreases micro-trauma and inflammation. PubMed

16. Bleeding first-aid plan
    Description. Teach direct pressure, elevation, and how to recognize when to seek emergency care. Keep non-stick dressings at home. Purpose. Reduce panic and improve outcomes when small bleeds occur. Mechanism. Rapid pressure can tamponade superficial vessel bleeds while awaiting medical care if needed. BioMed Central

17. Psychosocial support
    Description. Visible lesions affect self-image and social life. Counseling, peer groups, and realistic cosmetic goals help. Purpose. Improve quality of life and adherence to care. Mechanism. Support reduces stress and helps shared decision-making about staged treatments. PubMed

18. Genetic counseling & family testing
    Description. Discuss inheritance, options for testing relatives, and reproductive choices. Purpose. Enable early detection in family members and informed planning. Mechanism. Identifying at-risk relatives allows timely imaging and prevention steps. NCBI

19. Objective treatment monitoring (perfusion imaging)
    Description. Tools like laser speckle imaging, laser Doppler, and photoacoustic imaging can track perfusion changes during and after PDL. Purpose. Make treatments more precise and reduce sessions. Mechanism. Quantitative perfusion feedback helps optimize energy and intervals. IJDVL

20. Lifestyle & activity tailoring
    Description. Most people can live normally. Avoid high-impact trauma to lesions. Use protective gear for sports with contact risk. Plan dental and surgical work with your CM-AVM team. Purpose. Lower injury and bleeding risk and maintain fitness. Mechanism. Practical adjustments minimize mechanical stress on fragile vessels. BioMed Central

Drug treatments

Important: There is no FDA-approved drug specifically for CM-AVM1. Medicines are used to control symptoms (pain, infection, bleeding) or, in select cases, to target pathways involved in vascular anomalies. Off-label use must be led by a vascular-anomalies specialist. FDA labeling below documents the drug’s approved uses/safety, not a CM-AVM1 indication.

1. Acetaminophen
   Class. Analgesic/antipyretic. Dose/time. Typical adult oral 325–650 mg every 4–6 h (max per label/clinician). IV options exist. Purpose. First-line pain or fever control without platelet effects that could worsen bleeding. Mechanism. Central COX inhibition; antipyretic via hypothalamus. Side effects. Liver toxicity at excess dose or with alcohol. Evidence note. Used broadly for pain after laser or endovascular procedures. FDA Access Data+1

2. Ibuprofen
   Class. NSAID. Dose/time. Per label; use shortest duration needed. Purpose. Pain and inflammation control in lesions without active bleeding risk and with clinician approval. Mechanism. COX-1/COX-2 inhibition reduces prostaglandins. Side effects. GI bleed/ulcer, kidney effects, cardiovascular risk; avoid near procedures with bleeding risk unless cleared. Evidence note. Consider acetaminophen first if bleeding risk is a concern. FDA Access Data

3. Topical anesthetics (lidocaine)
   Class. Local anesthetic. Dose/time. Short procedural use. Purpose. Reduce pain during laser or wound care. Mechanism. Sodium channel blockade on nerve fibers. Side effects. Local irritation; rare systemic toxicity if misused. Evidence note. Supportive care. (General pharmacology texts; label not shown here.)

4. Antibiotics (e.g., Amoxicillin when infection present)
   Class. Beta-lactam antibiotic. Dose/time. Per clinician for confirmed bacterial infection of ulcerated skin. Purpose. Treat cellulitis or secondary infection. Mechanism. Inhibits bacterial cell wall synthesis. Side effects. Allergy, GI upset. Evidence note. Use only for proven infection, not prophylaxis. FDA Access Data

5. Tranexamic acid (TXA)
   Class. Antifibrinolytic. Dose/time. Oral or IV dosing per label for approved bleeding indications; any CM-AVM1 use is off-label and expert-guided. Purpose. Help control problematic mucosal or procedural bleeding in select cases. Mechanism. Blocks plasminogen binding to fibrin to stabilize clots. Side effects. Thrombosis risk, visual symptoms; avoid in high-risk states. FDA Access Data+1

6. Sirolimus (rapamycin)
   Class. mTOR inhibitor. Dose/time. Specialist-set with trough monitoring. Purpose. In select complex vascular anomalies to reduce pain, leakage, and volume; CM-AVM1 use is off-label. Mechanism. mTOR pathway inhibition reduces endothelial/lymphatic proliferation and leak. Side effects. Mucositis, infection, hyperlipidemia; drug interactions. Evidence. RCT and cohort data support benefit in slow-flow malformations; careful selection needed for fast-flow lesions. JAMA Network+2Wiley Online Library+2

7. Alpelisib
   Class. PI3K-α inhibitor. Dose/time. Per label for PROS; any CM-AVM1 use is off-label research-guided. Purpose. Target PI3K-driven overgrowth in select anomalies (not RASA1-driven per se). Mechanism. Blocks PI3K-α signaling. Side effects. Hyperglycemia, rash, diarrhea. Evidence. FDA accelerated approval for PROS, not CM-AVM; sometimes considered in multi-disciplinary boards for overlapping phenotypes. U.S. Food and Drug Administration+2FDA Access Data+2

8. Topical hemostatic agents (e.g., thrombin/gelatin sponge)
   Class. Local hemostatics. Purpose. Assist minor surface bleeds under clinician guidance. Mechanism. Provides matrix and thrombin to speed clotting. Side effects. Local reaction. (General surgical references.)

9. Prophylactic antiseptics (chlorhexidine for wound care)
   Class. Topical antiseptic. Purpose. Lower surface bacterial load during dressing changes. Mechanism. Disrupts cell membranes. Side effects. Irritation. (General wound-care texts.)

10. Short-course opioids (post-procedure, limited)
    Class. Opioid analgesics. Purpose. Short, carefully controlled relief after major procedures when other options are not enough. Mechanism. μ-opioid receptor agonism. Side effects. Constipation, sedation, dependence risk. (General labels; use sparingly per guidelines.)

11. Antihistamines (itch control)
    Class. H1 blockers. Purpose. Reduce itch around healing areas after laser. Mechanism. Histamine receptor blockade. Side effects. Sedation (first-gen). (General references.)

12. Topical corticosteroids (short course for dermatitis around dressings)
    Class. Anti-inflammatory steroid. Purpose. Calm contact dermatitis near treated sites. Mechanism. Genomic anti-inflammatory effects. Side effects. Skin atrophy with prolonged use. (Dermatology guidance.)

13. Prophylactic dental local measures (e.g., TXA mouth rinse post-procedure, off-label)
    Purpose. Reduce oral bleeding with clinician guidance. Mechanism. Local antifibrinolytic effect. Note. Off-label; apply protocols from dental surgery literature. FDA Access Data

14. Antimicrobial dressings (silver-impregnated) as adjuncts
    Purpose. Reduce bioburden in chronic ulcers from high-flow lesions awaiting definitive flow control. Mechanism. Local antimicrobial release. Side effects. Discoloration, sensitivity. (Wound-care references.)

15. Proton-pump inhibitors when NSAIDs required
    Purpose. GI protection if short NSAID course cannot be avoided. Mechanism. Acid suppression reduces ulcer risk. Side effects. Nutrient malabsorption with long use. (General GI guidelines; pair with ibuprofen label caveats.) FDA Access Data

16. Topical emollients/barrier creams
    Purpose. Reduce fissuring and micro-bleeds on exposed lesions. Mechanism. Barrier restoration. (Dermatology care texts.)

17. Antiseptic nasal care if nasal mucosa involved
    Purpose. Reduce epistaxis triggers. Mechanism. Moisturizing and mild antisepsis lowers crusting/trauma. (ENT practice references.)

18. Local vasoconstrictor (topical oxymetazoline for epistaxis, short-term)
    Purpose. Acute bleed control in nasal lesions under guidance. Mechanism. α-adrenergic vasoconstriction. Side effects. Rebound if overused. (ENT references.)

19. Antimicrobial prophylaxis only when indicated by procedure
    Purpose. Reduce surgical site infection risk per standard protocols, not for routine daily use. Mechanism. Targeted peri-procedural coverage. (Surgical guidelines; amoxicillin label above documents drug facts, not the prophylaxis indication itself.) FDA Access Data

20. Vaccination & infection-risk counseling during sirolimus
    Purpose. Reduce infection risk when on mTOR inhibition. Mechanism. Avoid live vaccines; schedule inactivated vaccines per guidelines. Side effects. Usual vaccine effects; coordinate timing with specialist. Evidence. Sirolimus increases infection susceptibility; labels and trials highlight monitoring. FDA Access Data+1

Dietary molecular supplements

There is no supplement that cures CM-AVM1. The goal is to support skin integrity, wound healing after procedures, and general immune health. Doses below are typical reference ranges from authoritative sources; your clinician/dietitian should personalize them and check for interactions.

1. Vitamin C (e.g., 75–120 mg/day adults; higher needs with wounds)
   Function/mechanism. Cofactor for collagen synthesis; antioxidant; supports capillary and skin healing after procedures. Evidence links vitamin C with tissue repair and collagen cross-linking. Office of Dietary Supplements+2PubMed Central+2

2. Zinc (e.g., 8–11 mg/day adults; short targeted use if deficient)
   Function/mechanism. Essential for immune function and wound healing; deficiency delays repair. Avoid chronic high dose to prevent copper deficiency. Office of Dietary Supplements+1

3. Vitamin D (typical maintenance 600–800 IU/day; correct deficiency per labs)
   Function/mechanism. Modulates immunity and inflammation; receptors in many tissues; helps overall resilience during long care plans. Office of Dietary Supplements+1

4. Omega-3 fatty acids (EPA/DHA) (e.g., 250–1000 mg/day combined, food-first)
   Function/mechanism. Shift eicosanoid balance toward less pro-inflammatory mediators; may help soreness and post-procedure inflammation; watch bleeding risk in very high doses. Office of Dietary Supplements

5. Protein (medical nutrition therapy)
   Function/mechanism. Adequate protein supports wound repair and collagen; combine with vitamin C and zinc after procedures. National Institutes of Health

6. Vitamin A (within safe limits; avoid excess)
   Function/mechanism. Supports epithelial integrity and immune function. Use only within recommended intakes to avoid toxicity. (ODS general guidance.) Office of Dietary Supplements

7. Arginine (medical nutrition, supervised)
   Function/mechanism. Conditionally essential amino acid; supports nitric-oxide–related wound biology and collagen deposition; use under dietitian guidance, especially around procedures. (Wound-healing nutrition sources.) National Institutes of Health

8. Copper (only if deficient; monitor)
   Function/mechanism. Cofactor for lysyl oxidase in collagen cross-linking; over-supplementation can be harmful—check levels first. (ODS copper guidance—general.) Office of Dietary Supplements

9. Selenium (within RDA)
   Function/mechanism. Antioxidant enzyme cofactor (glutathione peroxidase) that may help oxidative stress in wound environments; avoid high doses. (ODS antioxidant overviews.) Office of Dietary Supplements

10. Multinutrient approach via food
    Function/mechanism. Prioritize whole foods (fish, nuts, seeds, legumes, colorful produce) to deliver balanced micronutrients supporting tissue repair and immunity with fewer risks than high-dose single supplements. Office of Dietary Supplements

Immunity-booster / regenerative / stem-cell–related drugs

There is no approved “immunity booster” or stem-cell drug for CM-AVM1. Below are therapies sometimes discussed in the vascular-anomaly field; usage is specialist-only and off-label unless otherwise noted.

1. Sirolimus (mTOR inhibitor) — Can reduce symptoms such as pain, leak, and size in selected vascular anomalies; needs trough monitoring, infection vigilance, and vaccination planning. Not CM-AVM1-specific approval. JAMA Network+1

2. Alpelisib (PI3K-α inhibitor) — FDA-approved for PROS; sometimes discussed for overlapping phenotypes in multidisciplinary boards, not a CM-AVM1 approval. Monitor glucose and rash. U.S. Food and Drug Administration

3. Embolization materials (Onyx, coils) as “regenerative-sparing” strategy — Not drugs in the classic sense, but device-based therapies that, by closing shunts, allow tissues to heal and remodel. Requires specialist teams. SAGE Journals

4. Topical growth-friendly wound care (not systemic growth factors) — Evidence supports good nutrition and moisture-balanced dressings rather than systemic growth factors due to safety concerns. (Wound nutrition sheet.) National Institutes of Health

5. Clinical-trial agents (MEK inhibitors, others) — Targeting RAS/MAPK is biologically rational in RASA1 disease, but clinical evidence in CM-AVM1 is evolving; consider research settings only. American Heart Association Journals

6. Autologous tissue grafts after flow control — Surgical grafting or flaps may be used to reconstruct defects once AVM flow is controlled; this supports structural “regeneration” of function and contour. SAGE Journals

Surgeries (what they are and why they’re done)

1. Excision of residual nidus after embolization
   Procedure. Remove the remaining abnormal vessel mass once endovascular work has lowered flow. Why. Improves durability, lowers bleeding, and restores function or appearance. SAGE Journals

2. Debridement and reconstruction (grafts/flaps)
   Procedure. Remove non-healing tissue and reconstruct with skin grafts or flaps. Why. Treats chronic ulcers or tissue loss driven by high flow. Works best when shunt is controlled first. SAGE Journals

3. Staged resections of bulky lesions
   Procedure. Planned, stepwise surgeries to reduce risk and blood loss. Why. Complex AVMs often need multiple stages for safety and better outcomes. BioMed Central

4. Neurosurgical or endovascular-neurosurgical procedures
   Procedure. For brain/spinal AVMs/AVFs: microsurgery, embolization, or radiosurgery, selected by lesion anatomy. Why. Prevent hemorrhage or progressive neurologic damage. American Heart Association Journals

5. Oral/maxillofacial laser-assisted resections
   Procedure. Combine coagulative lasers with limited excision in the mouth or face. Why. Lower bleeding and speed recovery in visible areas. MDPI

Prevention tips

1. Get care in a specialized vascular-anomaly center and keep regular follow-ups. BioMed Central

2. Learn your warning signs (new pulsation, heat, pain, bleeding, ulcer, neuro signs) and seek early review. NCBI

3. Protect skin from trauma; use pads in contact sports; choose soft clothing. PubMed

4. Plan procedures (dental, surgery) with your team; ensure imaging and hemostasis plans exist. BioMed Central

5. Follow wound-care basics and treat infections quickly. BioMed Central

6. Maintain nutrition (protein, vitamin C, zinc, vitamin D, omega-3s in food) to support healing. National Institutes of Health+2Office of Dietary Supplements+2

7. Avoid unnecessary NSAIDs if you have bleeding risk; ask about acetaminophen first. FDA Access Data

8. Keep bleeding first-aid supplies at home (non-stick dressings, instructions). BioMed Central

9. Ensure family members are offered genetic counseling/testing. NCBI

10. If on sirolimus or similar, follow infection-prevention guidance and vaccine plans. FDA Access Data

When to see a doctor (or go to emergency)

• Immediately / emergency: sudden heavy bleeding that does not stop with pressure; new severe headache, seizure, weakness, vision loss, or a “whooshing” sound in the head or neck; signs of high-output heart failure (shortness of breath, swelling, fatigue). These may signal a fast-flow AVM problem. American Heart Association Journals

• Urgently: rapid change in size, warmth, pain, or new ulcer on a lesion; fever with spreading redness. BioMed Central

• Routinely: new skin spots, family planning questions, or before planned dental/surgical procedures. NCBI

What to eat and what to avoid

What to eat. A healing-friendly pattern: adequate protein (fish, eggs, legumes), vitamin C sources (citrus, berries, peppers), zinc sources (seafood, meats, legumes), and vitamin D (safe sun, fortified foods, fatty fish) as advised. Include omega-3 foods (oily fish, walnuts, flaxseed). Hydrate well, especially around procedures. These choices support collagen building, immune health, and controlled inflammation. Office of Dietary Supplements+4National Institutes of Health+4Office of Dietary Supplements+4

What to avoid (or limit). Ultra-processed foods low in nutrients while you are healing; high alcohol (hurts liver and clotting); excess NSAID use if you have bleeding risks (ask your team); very high-dose single supplements without medical advice. Coordinate any herbals that affect bleeding (e.g., high-dose fish oil, ginkgo) with your team. FDA Access Data

Frequently Asked Questions

1. Is CM-AVM1 cancer?
   No. It is a genetic blood-vessel malformation disorder, not a cancer. NCBI

2. Will the skin spots go away?
   They can lighten with pulsed-dye laser or other lasers, but many need repeat sessions. PubMed

3. Can CM-AVM1 affect the brain or spine?
   Yes. Some people develop AVMs/AVFs there. New neurologic signs need urgent imaging. Belgian Journal of Paediatrics

4. Is there a pill that cures CM-AVM1?
   No. Medicines are supportive or off-label for symptoms. Procedures treat the flow problem. BioMed Central

5. Why genetic testing?
   It confirms RASA1 changes, guides family screening, and can change surveillance plans. NCBI

6. Is laser safe?
   In expert hands, PDL is effective with low complication rates; several sessions are common. PubMed

7. What is embolization?
   A catheter-based way to block abnormal shunts to control bleeding, pain, and growth. Often staged. SAGE Journals

8. What is sclerotherapy?
   Injection that scars and closes abnormal channels in selected lesions. PubMed Central

9. Can lifestyle help?
   Yes: skin protection, nutrition, compression (if appropriate), and early care for changes. Lippincott Journals

10. Do I need to avoid all NSAIDs?
    Not always, but they raise bleeding/GI risks. Ask your team; acetaminophen is often first choice. FDA Access Data

11. Are sirolimus or alpelisib approved for CM-AVM1?
    No. Sirolimus has evidence in some vascular anomalies; alpelisib is approved for PROS, not CM-AVM1. Use only with specialists. JAMA Network+1

12. Should my child be checked?
    Yes—family members may carry the gene. Discuss genetic counseling and appropriate imaging. NCBI

13. How often do I need scans?
    Baseline imaging and symptom-triggered imaging are recommended; schedules are personalized. NCBI

14. Can dental work be risky?
    Yes, for oral lesions. Plan with your team; lasers and local hemostasis measures reduce bleeding. MDPI

15. Who should lead my care?
    A vascular-anomalies center with dermatology, interventional radiology, surgery, neurosurgery, cardiology, genetics, and nursing. BioMed Central

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: November 10, 2025.

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