Cavernous Hemangioma: Symptoms, Types, Causes and Treatment

Cavernous hemangioma—sometimes referred to as cavernous angioma, cavernoma, or cavernous venous malformation—is a benign vascular lesion that can occur in various parts of the body. While often asymptomatic, these lesions can sometimes cause significant symptoms depending on their location and size. Understanding their presentation, classification, origins, and management is essential for patients, families, and healthcare professionals alike. This comprehensive guide explores the symptoms, types, causes, and treatment options for cavernous hemangioma, synthesizing current research and clinical insights.

Symptoms of Cavernous Hemangioma

Cavernous hemangiomas are often silent, but when symptoms do occur, they are closely related to the lesion’s location and size. Some are discovered incidentally during imaging for unrelated issues, while others prompt medical attention due to their impact on surrounding tissues.

Location	Typical Symptom(s)	Age/Sex Predilection	Source(s)
Orbit	Progressive proptosis, visual impairment	Adults, more common in women	1
Brain/CNS	Seizures, neurological deficits, hemorrhage	Wide age range	8 11 13
Bone/Skull	Local swelling, headache	Adults, female predominance	2 6
GI Tract	Rectal bleeding, anemia, pain	Any, rare	5
Nasal cavity	Obstruction, epistaxis	Elderly	7
Mediastinum	Persistent cough, mass effect	Middle-aged, female dominance	4
Internal Auditory Canal	Hearing loss, tinnitus, facial weakness	Adults	3
Breast	Palpable mass	Rare, variable	9
Adrenal gland	Usually asymptomatic	Older adults, female	10

Table 1: Key Symptoms

Symptom Profiles by Location

Orbit and Eye

Cavernous hemangiomas are the most common primary orbital lesion in adults. They often present with progressive, painless protrusion of the eyeball (proptosis), and may cause visual impairment if the optic nerve is compressed. Lesions are more common in women, typically in their 40s and 50s. Diplopia (double vision) and other orbital signs may also occur, depending on tumor size and location 1.

Brain and Central Nervous System

Intracranial cavernous hemangiomas (also called cavernous angiomas or cerebral cavernous malformations) can cause a range of symptoms depending on where they form. Seizures are common, especially for brain parenchymal lesions. Lesions in critical brain areas (like the brainstem) can lead to severe neurological deficits. Recurrent small hemorrhages may manifest as progressive neurological symptoms 8 11 13.

Bone and Skull

Bone involvement is rare but can be seen in the skull (calvarium), vertebrae, and occasionally long bones. Symptoms include local swelling, a palpable mass, and sometimes headache. Many lesions are discovered incidentally on imaging 2 6.

Gastrointestinal Tract

In the GI tract, especially the rectum, cavernous hemangiomas may present as rectal bleeding, pain, or anemia. Because these lesions are submucosal, they are often not easily seen or biopsied during endoscopy 5.

Nasal Cavity

Cavernous hemangioma of the nasal cavity is rare, but when present, it most often causes nasal obstruction and recurrent nosebleeds (epistaxis), especially in elderly patients 7.

Mediastinum

A very rare location, mediastinal cavernous hemangioma, can cause symptoms from mass effect, such as a persistent cough. These lesions can mimic malignant tumors on imaging 4.

Internal Auditory Canal

Lesions in the internal auditory canal frequently cause sensorineural hearing loss, tinnitus, vertigo, and sometimes facial weakness or hemispasm if the facial nerve is involved 3.

Breast and Adrenal Gland

Breast and adrenal cavernous hemangiomas are exceedingly rare; they may present as a palpable mass or be found incidentally during imaging or surgery. Most adrenal lesions are asymptomatic 9 10.

Types of Cavernous Hemangioma

Cavernous hemangiomas are a diverse group, classified according to their anatomical location, histological features, and occasionally, genetic characteristics. The different types influence not only symptoms but also treatment and prognosis.

Type	Key Feature	Common Site(s)	Source(s)
Intracranial	Vascular malformation, risk of hemorrhage	Brain, brainstem, spinal cord	8 11 12 13
Orbital	Encapsulated, slow-growing mass	Orbit (eye socket)	1
Intraosseous	Osteolytic, honeycomb pattern	Skull, vertebrae	2 6
Soft Tissue	Palpable, compressible mass	Skin, subcutaneous tissue	14 15 17
Visceral	May be asymptomatic, mass effect	Liver, breast, adrenal, GI tract	5 9 10
Cavernous Sinus / Extra-axial	Extradural, cranial nerve compression	Cavernous sinus, skull base	8 12 16

Table 2: Types of Cavernous Hemangioma

Anatomical Types

Intracranial and Spinal

• These lesions are typically found within the brain parenchyma or spinal cord.
• Intracranial cavernous hemangiomas are also known as cerebral cavernous malformations (CCMs).
• They can be solitary or multiple, the latter often seen in familial cases 8 11 12.
• Extra-axial types (outside the brain tissue but within the skull) include those in the cavernous sinus or skull base, which can compress cranial nerves 8 12 16.

Orbital

• The most common primary orbital lesion in adults.
• Well-encapsulated, slow-growing, and usually located within the muscle cone of the orbit.
• May cause proptosis and vision changes 1.

Intraosseous (Bone)

• Rare lesions found in cranial bones or vertebrae.
• Osteolytic on imaging, sometimes with a honeycomb or sunburst appearance.
• Typically benign, but may cause pain or swelling 2 6.

Soft Tissue

• Involve skin, subcutaneous tissue, muscle, or mucosa.
• Present as compressible, bluish, or violaceous masses.
• May be congenital or acquired 14 15 17.

Visceral

• Occur in organs such as liver, adrenal gland, breast, or GI tract.
• Frequently asymptomatic and discovered incidentally.
• Larger lesions may cause symptoms due to local mass effect 5 9 10.

Cavernous Sinus/Extra-axial

• Involve the area near the sella turcica and cavernous sinus in the skull.
• May present with cranial nerve deficits, especially of nerves controlling eye movement 8 16.

Histological Variants

Cavernous hemangiomas are classified histologically by large, dilated vascular channels lined by a single layer of endothelium and separated by fibrous septa. They differ from capillary hemangiomas, which have smaller, tightly packed vessels 7 9.

Genetic and Familial Types

• Familial cerebral cavernous malformations are associated with mutations in CCM1 (KRIT1), CCM2, and CCM3 genes, leading to multiple lesions in the brain and spinal cord 11.
• Somatic mutations in GNAQ, GNA14, or GJA4 genes have been identified in some extra-axial cavernous hemangiomas, influencing their growth and potential response to targeted therapy 12.

Causes of Cavernous Hemangioma

The origins of cavernous hemangiomas are complex, involving both genetic and environmental factors. While many cases are sporadic and arise without a clear cause, some are linked to inherited mutations or specific triggers.

Factor	Description	Evidence/Details	Source(s)
Sporadic	Most cases, no family history	Single lesion, no identifiable mutation	8 11
Familial	Inherited, autosomal dominant	Multiple lesions, CCM gene mutations	11
Somatic Mutations	Acquired genetic changes	GNAQ, GNA14, GJA4 in extra-axial lesions	12
Trauma	Possible trigger for bone lesions	Head trauma suspected in some skull cases	2
Embryological	Developmental vascular malformation	Disordered vessel formation	1 7 15
Hormonal	Female predominance in some locations	Higher incidence in women (orbit, mediastinum)	1 4 6

Table 3: Causes and Risk Factors

Genetic Contributions

Familial Syndromes

• Familial cerebral cavernous malformations are inherited in an autosomal dominant manner and caused by mutations in CCM1 (KRIT1), CCM2, or CCM3 genes.
• These mutations lead to the formation of multiple lesions throughout the brain and spinal cord 11.

Somatic Mutations

• Recent genetic studies have identified somatic (acquired) mutations in GNAQ, GNA14, and GJA4 in certain extra-axial cavernous hemangiomas, especially those found in the cavernous sinus or spine.
• These mutations activate signaling pathways that promote abnormal blood vessel formation 12.

Sporadic Cases

• The majority of cases are sporadic, with no identifiable genetic cause or family history.
• Sporadic lesions are typically solitary 8 11.

Environmental and Developmental Factors

• Some authors suggest that trauma may act as a trigger for cavernous hemangioma formation in bone, although this is not universally accepted 2.
• Many cavernous hemangiomas are thought to originate from developmental errors in blood vessel formation during embryogenesis, classifying them as vascular malformations rather than true tumors 1 7 15.

Hormonal Factors

• A higher incidence in females is observed for orbital and mediastinal cavernous hemangiomas, suggesting a possible hormonal influence on lesion growth or development 1 4 6.

Treatment of Cavernous Hemangioma

Treatment of cavernous hemangioma depends on several factors: the lesion’s location, size, symptoms, and risk of complications. Management ranges from observation to surgical excision, with minimally invasive and pharmacological options emerging for selected cases.

Approach	Indication	Advantages/Limitations	Source(s)
Observation	Asymptomatic, small lesion	Avoids risk; monitor for changes	3 5 11
Surgery	Symptomatic, accessible	Definitive removal; risk of bleeding	1 2 3 6 10 15 16
Sclerotherapy	Soft tissue, subcutaneous	Minimally invasive, effective	5 14
Embolization	Large, hypervascular lesion	Reduces surgical risk, palliative	5 6
Endoscopic/Minimally Invasive	Orbital, GI tract	Less trauma, faster recovery	1 5
Radiosurgery	Intracranial, deep lesion	Noninvasive, seizure reduction	13
Steroid injection	Recurrent or unresectable	Reduces lesion size, low recurrence	17
Targeted Therapy	Genetic mutation present	Experimental (e.g., rapamycin)	12

Table 4: Treatment Options

Observation ("Wait-and-Scan")

• Many cavernous hemangiomas, particularly those that are asymptomatic and discovered incidentally, can be safely observed with periodic imaging.
• This approach avoids unnecessary intervention and is appropriate for small, stable lesions 3 5 11.

Surgical Excision

• Surgery remains the mainstay for symptomatic lesions or those causing compression of vital structures.
• Complete excision is usually curative for accessible lesions (e.g., orbit, bone, GI tract, adrenal).
• In cranial or cavernous sinus locations, surgery can be challenging due to the vascular nature and proximity to critical nerves and vessels. An extradural approach is often used for cavernous sinus lesions, but risk of bleeding and neurological deficits is significant 1 2 3 6 10 15 16.
• For intraosseous hemangiomas, en bloc removal and reconstruction are recommended 6.

Sclerotherapy and Embolization

• Sclerotherapy (injection of agents to shrink the lesion) is effective for many soft tissue cavernous hemangiomas, especially in the face, neck, and subcutaneous locations 14.
• Embolization may be used preoperatively for large or hypervascular lesions to reduce intraoperative bleeding, or as a palliative measure when surgery is not feasible 5 6.

Minimally Invasive and Endoscopic Techniques

• Endoscopic approaches have revolutionized the management of some cavernous hemangiomas, especially in the orbit and GI tract.
• Endoscopic transnasal surgery is less invasive for orbital lesions, while endoscopic submucosal dissection is emerging as the best approach for rectal cavernous hemangiomas 1 5.

Radiosurgery

• Gamma Knife radiosurgery is an option for deep-seated or inoperable intracranial cavernous hemangiomas.
• It can reduce lesion size and decrease seizure frequency, although effects may take time to manifest 13.

Pharmacological and Novel Therapies

• Intralesional steroid injection (e.g., triamcinolone acetonide) has shown success in reducing the size and recurrence of some cavernous hemangiomas, particularly in children or when surgery fails 17.
• Targeted therapy, such as rapamycin, is being explored for genetically defined cases with GNAQ or GNA14 mutations, showing promise in early studies 12.

Special Considerations

• Biopsy of highly vascular lesions (especially in the GI tract) should be avoided, as it can cause significant hemorrhage 5.
• The adequacy of the deep venous system must be evaluated before surgical intervention in limb lesions 15.
• Multidisciplinary management is often necessary, especially for complex or deep lesions 1.

Conclusion

Cavernous hemangiomas are benign but potentially problematic vascular malformations that can arise in nearly any tissue. Their symptoms, types, causes, and treatments are diverse, depending on location and individual patient factors.

Key takeaways:

• Symptoms vary widely: Presentation depends on site—ranging from painless masses to neurological deficits or bleeding 1 2 3 5 8 11.
• Types are location-driven: Intracranial, orbital, intraosseous, soft tissue, visceral, and cavernous sinus forms each have unique clinical implications 1 2 5 6 8 11 12.
• Causes include genetics and development: Most cases are sporadic, but familial forms and somatic mutations are well-established; trauma/hormones may play a role 2 11 12.
• Treatment is individualized: Ranges from observation to surgery, sclerotherapy, embolization, radiosurgery, and emerging targeted therapies—always tailored to the patient’s needs and lesion characteristics 1 3 5 6 10 12 13 14 15 16 17.

Timely recognition and multidisciplinary care are crucial for optimal outcomes. As research advances, novel therapies and less invasive techniques are expanding the possibilities for effective, safe management of cavernous hemangiomas.