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Hemangioma

Disease Details

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Description: A hemangioma is a benign tumor made up of a mass of abnormal blood vessels.
Type: Hemangioma is typically classified as a benign vascular tumor. It is not usually inherited, meaning it does not follow a defined pattern of genetic transmission like many other genetic disorders. Hemangiomas are generally considered to be sporadic in nature, although some familial cases have been observed, suggesting a potential but not well-defined genetic component.
Signs And Symptoms: Signs and symptoms of hemangioma:

1. **Appearance on the skin**: A red or purple mark or bump on the skin, often resembling a strawberry.
2. **Growth phase**: It typically grows rapidly in the first year of life, creating a raised, firm, and bright red lesion.
3. **Involution phase**: After the growth phase, it usually begins to shrink and fade. The color may change to grey or white as it regresses.
4. **Location-specific symptoms**: If located in sensitive areas like the liver, brain, or airways, it may cause discomfort or functional issues specific to that organ.

In most cases, hemangiomas are harmless and painless, but medical evaluation is important to rule out complications.
Prognosis: Hemangiomas are generally benign vascular tumors that are most commonly seen in infants. The prognosis for hemangiomas is typically very good. Most infantile hemangiomas undergo a phase of rapid growth during the first year of life, followed by a spontaneous involution over several years. By the age of 7 to 10, many hemangiomas have significantly reduced in size or disappeared completely. Treatment is often not necessary unless the hemangioma interferes with vital functions or causes complications, in which case options like beta-blockers, steroids, or laser therapy may be considered.
Onset: Hemangiomas typically onset at birth or within the first few weeks to months of life. They are common benign vascular tumors often referred to as infantile hemangiomas.
Prevalence: Hemangiomas are relatively common vascular birthmarks. They occur in about 4-5% of infants, with a higher prevalence in premature babies and females. The exact cause remains unknown, but they are generally benign and often resolve on their own over time.
Epidemiology: Hemangiomas are the most common benign vascular tumors in infancy. Epidemiologically, they occur in approximately 4-10% of infants and are more frequent in females, with a ratio of about 3:1 compared to males. They are also more common in preterm infants and those with low birth weight. Most hemangiomas appear within the first few weeks of life and tend to grow rapidly during the first six months before gradually involuting over several years. Hemangiomas are seen less frequently in people of African descent compared to those of Caucasian descent.
Intractability: Hemangiomas are generally not intractable. They often resolve on their own during early childhood. However, treatment might be necessary if they cause complications, such as impairing vision, breathing, or other functions, or if they lead to significant disfigurement. Various treatments, including medications like beta-blockers, laser therapy, and surgery, can effectively manage problematic hemangiomas.
Disease Severity: Hemangiomas are generally benign vascular tumors that are most commonly found in infants and children. The severity of hemangiomas can vary depending on their size, location, and the presence of any complications:

1. **Mild**: Most hemangiomas are small and superficial, often resolving without treatment by the age of 10. These are typically of low concern.

2. **Moderate**: Some hemangiomas may grow larger or be located in areas where they cause cosmetic concerns or minor functional impairment, such as near the eyes, lips, or nose.

3. **Severe**: Large hemangiomas or those located in critical areas (e.g., airways, liver, or near vital organs) may cause complications such as ulceration, bleeding, pain, or interference with organ function, necessitating medical intervention.

Treatment options range from observation to medications (e.g., beta-blockers) and, in rare cases, surgery.
Healthcare Professionals: Disease Ontology ID - DOID:255
Pathophysiology: Hemangiomas are benign vascular tumors that commonly occur in infancy. The pathophysiology involves:

1. Proliferative Phase: Rapid growth of endothelial cells forms dense clusters of blood vessels.
2. Involution Phase: Gradual regression, where the majority of hemangiomas reduce in size and vascularity over time.

The exact cause remains unclear, but genetic and environmental factors are believed to play roles. Hypoxia or localized increased levels of angiogenic factors may stimulate the growth of hemangiomas.
Carrier Status: Hemangiomas are benign vascular tumors commonly found in infants. They are not associated with a carrier status since they are not typically inherited in a simple Mendelian fashion. Instead, they generally arise sporadically without a clear genetic inheritance pattern.
Mechanism: Hemangiomas are benign vascular tumors that commonly occur in infancy. They are characterized by the rapid growth of endothelial cells.

**Mechanism:**
Hemangiomas follow a typical pattern of development:
1. **Proliferative Phase:** This phase occurs in the first few weeks or months of life. The hemangioma grows rapidly due to the proliferation of endothelial cells and an increase in blood vessel formation.
2. **Involution Phase:** Following the proliferative phase, the hemangioma gradually enters a phase where growth slows down, and the tumor starts to shrink and regress over several years.

**Molecular Mechanisms:**
1. **Growth Factors:** Vascular Endothelial Growth Factor (VEGF) and Fibroblast Growth Factor (FGF) are crucial in the proliferation phase. They stimulate endothelial cell division and new blood vessel formation (angiogenesis).
2. **HIF-1α:** Hypoxia-Inducible Factor 1-alpha (HIF-1α) is upregulated under hypoxic conditions, which are common in rapidly growing tissues. HIF-1α induces the expression of VEGF, promoting angiogenesis.
3. **Angiopoietin-2 and Tie2 Receptor:** These molecules are involved in vascular remodeling and stabilization. Their interaction is significant in the later stages of hemangioma development.
4. **Propranolol Sensitivity:** Propranolol, a β-adrenergic receptor blocker, is effective in treating hemangiomas. It likely works through vasoconstriction, decreased expression of VEGF, and induction of apoptosis in endothelial cells.
5. **Genetic Factors:** Mutations in genes regulating angiogenesis and endothelial cell proliferation, such as those coding for certain signaling pathways, can contribute to hemangioma formation.

Understanding these mechanisms helps in the diagnosis and provides a basis for therapeutic strategies, including pharmacological interventions like propranolol.
Treatment: Hemangiomas usually fade gradually over time, and many do not require treatment. However, hemangiomas that may be disfiguring or that are located at sites that can cause impairment (eyelids, airway) require early treatment intervention, typically with beta blockers. Management options may include: A lot of treatment is based on case to case of each patient, with every case being different.
Oral beta blockers such as propranolol or atenolol have been used since 2008 and are the first-line treatment of hemangiomas. Beta blockers have repeatedly been shown to be effective and safe in treating hemangiomas that cause complications. Beta blockers work via multiple mechanisms including narrowing the hemangioma's blood vessels, stopping them from proliferating and bringing forward their natural cell death. These correspond with hemangiomas fading and shrinking. Approximately 97% of hemangiomas respond to propanolol, with patients under 2 months old showing the greatest improvement.
Topical beta blockers such as timolol. They are most helpful for thin superficial hemangiomas. These should not be used in conjunction with oral beta blockers given systemic absorption of topical timolol is known to occur
Corticosteroids
Laser surgery
Physiotherapy for muscular skeletal pain management.

== References ==
Compassionate Use Treatment: Compassionate use treatment for hemangiomas typically refers to accessing investigational medications outside of clinical trials for patients who have serious or life-threatening conditions and no other treatment options.

One example is the use of propranolol, initially a heart medication, for infantile hemangiomas, which became an established treatment after showing significant effectiveness.

Off-label or experimental treatments for hemangiomas may include:
1. **Timolol**: This topical beta-blocker, although primarily used for glaucoma, has shown effectiveness in treating superficial infantile hemangiomas.
2. **Sirolimus**: An mTOR inhibitor employed in certain cases of complex vascular anomalies and hemangiomas, showing promise in early studies.
3. **Bleomycin**: A sclerosing agent sometimes used in hemangioma treatment, although it primarily targets vascular malformations and tumors.

These treatments can be potent, and their use typically requires close medical supervision and follow-up due to potential side effects and the experimental nature of the therapies.
Lifestyle Recommendations: Hemangiomas are usually benign vascular tumors that often appear in infancy and can regress over time. While lifestyle changes are typically not necessary for managing hemangiomas, the following general recommendations can help improve overall skin health and monitor the condition:

1. **Skin Care:** Maintain good skin hygiene to prevent irritation or infection of the hemangioma.
2. **Sun Protection:** Use sunscreen and protective clothing to shield the hemangioma from excessive sun exposure, which can cause changes in appearance or irritation.
3. **Regular Monitoring:** Keep an eye on the hemangioma’s size, color, and texture. Report any rapid changes to a healthcare provider.
4. **Healthy Diet:** Follow a balanced diet to support overall health, which can indirectly benefit skin condition.
5. **Hydration:** Ensure adequate fluid intake to maintain skin hydration.
6. **Avoid Trauma:** Protect the hemangioma from injury, especially if it is in a location prone to bumps or cuts.

For specific treatment or management strategies, including medical or surgical interventions, consult a healthcare provider.
Medication: For the treatment of hemangiomas, particularly infantile hemangiomas, propranolol is commonly used. Propranolol is a non-selective beta-blocker that can help reduce the size and coloration of hemangiomas. Corticosteroids and other beta-blockers, such as timolol, may also be used in certain cases. Treatment plans should be tailored to the individual patient by a healthcare professional.
Repurposable Drugs: For hemangioma, propranolol, a beta-blocker traditionally used to treat high blood pressure, has been repurposed effectively. It is commonly used to treat infantile hemangiomas, reducing their size and appearance.
Metabolites: Hemangiomas, which are benign vascular tumors commonly occurring in infants, do not have specific metabolites directly associated with their presence. They are predominantly characterized by rapid endothelial cell proliferation and potential subsequent involution. However, certain molecules such as vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) are often involved in their proliferation. Nanotechnology has been explored as a potential therapeutic approach, with research focusing on targeted drug delivery systems to modulate these growth factors and inhibit tumor growth effectively.
Nutraceuticals: Nutraceuticals are not a primary treatment for hemangiomas. Hemangiomas are typically managed using medical therapies such as beta-blockers (e.g., propranolol), corticosteroids, and, in some cases, laser treatments or surgery. While certain dietary supplements may support overall skin health, they do not specifically target hemangioma growth or regression. It's important for patients to consult healthcare professionals for appropriate diagnosis and treatment options for hemangiomas.
Peptides: Hemangioma is a benign vascular tumor commonly found in infants.

- **Peptides**: While there are no widely established peptide-based treatments specifically for hemangiomas, research into angiogenesis inhibitors, which may include peptides, is ongoing. Some potential therapeutic peptides could theoretically inhibit the growth of blood vessels within hemangiomas.

- **Nanotechnology (Nan.)**: Nanotechnology offers promising approaches for hemangioma treatment, such as targeted drug delivery systems. Nanoparticles can be engineered to deliver therapeutic agents directly to the hemangioma, potentially reducing side effects and improving efficacy.

The primary treatments currently include beta-blockers like propranolol, corticosteroids, and laser therapy.