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Angiomyolipoma

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Description: Angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle cells, and fat cells, typically found in the kidneys.
Type: Angiomyolipoma is a type of benign tumor that is most commonly associated with the kidneys. The type of genetic transmission for angiomyolipoma, particularly when it occurs in association with tuberous sclerosis complex (TSC), is autosomal dominant.
Signs And Symptoms: Most people with benign angiomyolipomas do not show signs or have symptoms. However, symptoms can occur if the dilated blood vessels in an angiomyolipoma rupture; this is called a retroperitoneal hemorrhage. This can cause pain in the back, nausea and vomiting. Some long-term effects are anemia, hypertension, and chronic kidney disease. Up to 20% of patients who present symptoms, and are brought into the emergency department, are in shock.
Prognosis: Small angiomyolipomas and those without dilated blood vessels (aneurysms) cause few problems, but angiomyolipomas have been known to grow as rapidly as 4 cm in one year. Angiomyolipomas larger than 5 cm and those containing an aneurysm pose a significant risk of rupture, which is a medical emergency, as it is potentially life-threatening. One population study found the cumulative risk of hemorrhage to be 10% in males and 20% in females.A second problem occurs when the renal angiomyolipomas take over so much kidney that the function is impaired, leading to chronic kidney disease. This may be severe enough to require dialysis. A population survey of patients with TSC and normal intelligence found 1% were on dialysis.
Onset: The onset of angiomyolipoma can vary widely among individuals. It often occurs in adults, typically appearing between the ages of 30 and 50. However, it can also be found at any age. Many angiomyolipomas are asymptomatic and are discovered incidentally during imaging studies for other reasons. In some cases, symptoms such as abdominal pain, hematuria (blood in urine), or flank pain may prompt investigation.
Prevalence: Prevalence of angiomyolipoma is approximately 0.13% in the general population. In individuals with tuberous sclerosis complex, the prevalence is significantly higher, occurring in up to 80% of cases.
Epidemiology: Angiomyolipomas are the most common benign tumour of the kidney, and are found either in patients with tuberous sclerosis or sporadically. About 80–90% of cases are sporadic, and these are most commonly found in middle-aged women.In patients with TSC, a longitudinal study found 80% will have some form of renal lesion by around 10 years of age. Of these, 75% are angiomyolipomas and 17% are cysts. The angiomyolipomas increased in size in around 60% of these children. An autopsy study and TSC clinic survey found a prevalence of 67 and 85%, respectively, for patients with TSC. Both genders are affected equally.
Intractability: Angiomyolipoma, a benign tumor commonly associated with the kidneys, is generally not considered intractable. These tumors can often be managed effectively with regular monitoring, medication, or surgical intervention if necessary. However, complications such as bleeding or larger tumor sizes may require more aggressive treatment.
Disease Severity: Angiomyolipoma is generally considered a benign (non-cancerous) tumor that most commonly affects the kidneys. Its severity can vary based on factors such as size and location. Small, asymptomatic tumors may require only periodic monitoring, while larger or symptomatic tumors may necessitate medical intervention.

Disease Severity: Varies. Typically benign but may cause complications if large or symptomatic.
Nan: Not applicable in this context.
Healthcare Professionals: Disease Ontology ID - DOID:3314
Pathophysiology: Angiomyolipomas are tumours consisting of perivascular epithelioid cells (cells which are found surrounding blood vessels and which resemble epithelial cells). A tumour of this kind is known as a PEComa, from the initials of perivascular epithelioid cell. Older literature may classify them as hamartomas (benign tumours consisting of cells in their correct location, but forming a disorganised mass) or choristoma (benign tumours consisting of normal cells in the wrong location). PEComas are themselves a kind of mesenchymal tumour which involves cells that form the connective tissue, cardiovascular, and lymphatic systems.An angiomyolipoma is composed of varying proportions of vascular cells, immature smooth muscle cells, and fat cells. These three components respectively give rise to the components of the name: angio-, myo-, and lip-. The -oma suffix indicates a tumour.Angiomyolipomas are typically found in the kidney, but have also been commonly found in the liver and less commonly the ovary, fallopian tube, spermatic cord, palate, and colon. The Maclean imaging classification system for renal angiomyolipomas is based on the location of the angiomyolipoma within the kidney.Since all three components of an angiomyolipoma (vascular cells, immature smooth muscle cells, and fat cells) contain a "second-hit" mutation, they are believed to have derived from a common progenitor cell that developed the common second-hit mutation.
Carrier Status: Angiomyolipoma is not typically associated with a carrier status. It is a benign tumor commonly found in the kidneys and is composed of blood vessels, smooth muscle cells, and fat cells. While the exact cause is unknown, it is often linked to a genetic condition called tuberous sclerosis complex (TSC). However, in many cases, angiomyolipomas occur sporadically without a hereditary pattern.
Mechanism: Angiomyolipoma is a benign renal tumor composed of blood vessels, smooth muscle cells, and adipose tissue. The development of angiomyolipoma is closely associated with genetic mutations, particularly involving the TSC1 and TSC2 genes.

**Mechanism:**
- Angiomyolipomas typically arise due to genetic mutations in the TSC1 or TSC2 genes, which encode hamartin and tuberin, respectively.
- These proteins form a complex that negatively regulates mTOR (mechanistic target of rapamycin), a crucial signaling pathway for cell growth and proliferation.
- Loss of function in either TSC1 or TSC2 leads to uncontrolled mTOR activation, promoting cell growth, proliferation, and the formation of the characteristic mixture of tissues (vessels, muscle, and fat) seen in angiomyolipomas.

**Molecular Mechanisms:**
1. **TSC1/TSC2 Mutation:**
- Mutations in the TSC1 or TSC2 genes result in dysfunctional hamartin-tuberin complex.
- This dysfunction fails to inhibit the mTORC1 (mammalian target of rapamycin complex 1) pathway.

2. **mTOR Pathway Activation:**
- The mTORC1 pathway, when overactive, drives cell growth, protein synthesis, and lipogenesis.
- Continuous activation of mTORC1 leads to cellular proliferation and abnormal accumulation of fat and muscle cells within the kidney.

3. **Cellular Proliferation:**
- Increased cell growth and division due to mTORC1 activity produce the tumor mass consisting of vascular, smooth muscle, and adipose components.

4. **Autophagy Inhibition:**
- Hyperactivation of mTORC1 inhibits autophagy, a process that degrades and recycles cellular components, contributing further to the abnormal cellular accumulation.

Understanding these molecular mechanisms is crucial for developing targeted therapies, such as mTOR inhibitors (e.g., sirolimus or everolimus), to manage angiomyolipomas effectively.
Treatment: Everolimus is US Food and Drug Administration-approved for the treatment of angiomyolipomas. Treatment should be considered for asymptomatic, growing AMLs measuring larger than 3 cm in diameter.Angiomyolipomas do not normally require surgery unless life-threatening bleeding is present. Some centers may perform preventative selective embolisation of the angiomyolipoma if it is more than 4 cm in diameter, due to the risk of hemorrhage.People with tuberous sclerosis are advised to have yearly renal scans, though patients with very stable lesions could be monitored less frequently. The research in this area is lacking. Even if no angiomyolipoma is found, one can develop at any life stage. The angiomyolipoma can grow rapidly.In tuberous sclerosis, typically, many angiomyolipomas affect each kidney. Not uncommonly, more than one intervention may be required during lifetime. Since kidney function may already be impaired (up to half the kidney may be lost before function loss is detectable), preserving as much kidney as possible is vital when removing any lesion. Large angiomyolipomas are treated by embolization, which reduces the risk of hemorrhage and can also shrink the lesion. A side effect of this treatment is postembolisation syndrome, severe pain and fever, but this is easily managed and lasts only a few days.A ruptured aneurysm in an angiomyolipoma leads to blood loss that must be stopped (though embolisation) and compensated for (through intravenous fluid replacement). Therefore, removal of the affected kidney (nephrectomy) is strongly discouraged, though may occur if the emergency department is not knowledgeable about tuberous sclerosis.Embolisation involves inserting a catheter along the blood vessels to the tumour. The blood vessels are then blocked, typically by injecting ethanol or inert particles. The procedure can be very painful, so analgesics are used. The destroyed kidney tissue often causes postembolisation syndrome, which manifests as nausea, vomiting, fever, and abdominal pain, and lasts a few days. Embolisation (in general) has an 8% rate of morbidity and a 2.5% rate of mortality, so is not considered lightly.Patients with kidney loss should be monitored for hypertension (and treated for it if discovered) and avoid nephrotoxic drugs such as certain pain relievers and intravenous contrast agents. Such patients who are unable to communicate effectively (due to age or intellectual disability) are at risk of dehydration. Where multiple or large angiomyolipomas have caused chronic kidney disease, dialysis is required.Robotic assisted partial nephrectomy has been proposed as a surgical treatment of a ruptured angiomyolipoma combining the advantages both of a kidney preservation procedure and the benefits of a minimal invasive procedure without compromising the safety of the patient.
Compassionate Use Treatment: Angiomyolipoma, a type of benign kidney tumor often associated with tuberous sclerosis complex (TSC), can sometimes require treatment beyond standard care.

**Compassionate Use Treatment:** This involves the use of investigational drugs or treatments not yet approved by regulatory authorities, for patients with serious or life-threatening conditions who have exhausted all other options. Specific details and availability would depend on regulatory guidelines and availability of ongoing clinical trials or compassionate use programs by drug manufacturers.

**Off-Label or Experimental Treatments:**
1. **mTOR Inhibitors:** Drugs like everolimus (Afinitor) and sirolimus (Rapamune) are primarily approved for treating certain cancers and TSC, but are used off-label for angiomyolipomas to reduce their size and prevent complications.
2. **Embolization:** This minimally invasive procedure, which involves the intentional blocking of blood vessels feeding the tumor, is sometimes used to control bleeding and decrease the tumor's size.
3. **Cryoablation and Radiofrequency Ablation:** These techniques are used experimentally to destroy the tumor using extreme cold or heat.

It's important for patients to consult healthcare providers for detailed information and tailor treatments to their individual medical needs.
Lifestyle Recommendations: For individuals with angiomyolipoma, lifestyle recommendations might include:

1. **Regular Monitoring:** Schedule regular check-ups with your healthcare provider to monitor the size and behavior of the tumor.

2. **Healthy Diet:** Maintain a balanced diet rich in fruits, vegetables, lean proteins, and whole grains to support overall health.

3. **Hydration:** Stay well-hydrated to support kidney function.

4. **Avoiding High-Impact Activities:** Avoid activities that could cause abdominal or flank trauma to reduce the risk of bleeding from the angiomyolipoma.

5. **Manage Blood Pressure:** Keep blood pressure under control through medication or lifestyle changes as high blood pressure can affect kidney health.

6. **Limit Alcohol and Stop Smoking:** Reduce or eliminate alcohol intake and avoid smoking to lower the risk of complications.

Always consult with a healthcare provider for personalized advice and recommendations.
Medication: Angiomyolipoma is a benign tumor commonly found in the kidneys. Medication options for managing angiomyolipoma primarily include:

1. **mTOR Inhibitors**: Everolimus or sirolimus can be prescribed to reduce tumor size and prevent complications, especially in cases associated with tuberous sclerosis complex.

However, treatment plans should always be discussed with a healthcare professional to tailor the approach to the individual's specific condition.
Repurposable Drugs: There are currently no widely accepted repurposable drugs specifically for the treatment of angiomyolipoma, a benign kidney tumor typically composed of blood vessels, muscle, and fat. Existing treatments focus on reducing tumor size or symptoms, which may include medications like mTOR inhibitors (e.g., everolimus) that have shown efficacy in shrinking tumors in certain cases, particularly those associated with tuberous sclerosis complex (TSC).
Metabolites: Angiomyolipoma is a benign tumor commonly found in the kidneys, composed of blood vessels, smooth muscle cells, and fat cells. It is associated with the genetic condition tuberous sclerosis complex. There is currently no specific information about unique metabolites directly linked to angiomyolipoma. Treatment typically focuses on monitoring and managing symptoms, and in some cases, medication or surgical intervention may be required.
Nutraceuticals: For angiomyolipoma, there is no established evidence that nutraceuticals play a significant role in its treatment or prevention. Angiomyolipomas are benign tumors typically associated with tuberous sclerosis complex, and their management usually involves monitoring or medical and surgical interventions based on tumor size and symptoms. Always consult a healthcare professional for appropriate diagnosis and treatment options tailored to individual cases.
Peptides: Angiomyolipomas are benign tumors typically found in the kidneys and made up of blood vessels, smooth muscle cells, and fat cells.

**Peptides**: There is limited information specifically linking peptides to the treatment or pathology of angiomyolipomas. Most research focuses on genetic mutations, particularly in the TSC1 or TSC2 genes related to tuberous sclerosis complex, which can lead to the development of these tumors.

**Nanotechnology (Nan)**: Advanced treatments involving nanotechnology are being explored for various medical conditions, including tumors. However, nanotechnology specifically for angiomyolipomas is still in the research phase. Potential applications could include targeted drug delivery systems or imaging techniques for better tumor localization and treatment efficacy.

Regular monitoring and, in some cases, treatment with drugs like mTOR inhibitors (e.g., everolimus) can help manage angiomyolipomas, especially in patients with tuberous sclerosis complex.