About Acquired pseudoxanthoma elasticum

What is Acquired pseudoxanthoma elasticum?

Acquired pseudoxanthoma elasticum (APXE) is a rare genetic disorder that affects the elastic fibers in the skin, eyes, and cardiovascular system. It is characterized by yellowish papules on the skin, angioid streaks in the eyes, and calcification of the arteries. It is caused by mutations in the ABCC6 gene, which is responsible for producing a protein that helps regulate the metabolism of elastin. Treatment typically involves lifestyle modifications, such as avoiding smoking and maintaining a healthy diet, as well as medications to reduce cholesterol and blood pressure.

What are the symptoms of Acquired pseudoxanthoma elasticum?

The most common symptoms of Acquired pseudoxanthoma elasticum (APXE) include:

-Yellowish papules or Plaques on the skin, usually on the neck, armpits, groin, and around the eyes
-Skin laxity and wrinkling
-Angioid streaks in the retina of the eye
-Gastrointestinal problems, such as difficulty swallowing, abdominal pain, and diarrhea
-Cardiovascular problems, such as hypertension, angina, and heart failure
-Kidney problems, such as proteinuria and renal failure
-Musculoskeletal problems, such as Joint Pain and stiffness

What are the causes of Acquired pseudoxanthoma elasticum?

Acquired pseudoxanthoma elasticum (APXE) is a rare genetic disorder caused by mutations in the ABCC6 gene. This gene is responsible for producing a protein that helps regulate the metabolism of calcium and other minerals in the body. Mutations in this gene can lead to the accumulation of calcium and other minerals in the elastic fibers of the skin, eyes, and cardiovascular system. This accumulation causes the skin to become yellow and wrinkled, and can lead to vision problems and cardiovascular complications.

What are the treatments for Acquired pseudoxanthoma elasticum?

1. Dietary modifications: Patients with Acquired Pseudoxanthoma Elasticum (APXE) may benefit from dietary modifications, such as avoiding foods high in fat and cholesterol, and increasing intake of fruits and vegetables.

2. Vitamin C and Calcium Supplements: Vitamin C and calcium supplements may help reduce the risk of complications associated with APXE.

3. Laser Therapy: Laser therapy may be used to reduce the appearance of skin lesions associated with APXE.

4. Surgery: Surgery may be used to remove skin lesions or to repair damaged blood vessels.

5. Medications: Medications such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and statins may be used to reduce the risk of complications associated with APXE.

What are the risk factors for Acquired pseudoxanthoma elasticum?

1. Genetic mutations in the ABCC6 gene
2. Family history of Acquired pseudoxanthoma elasticum
3. Certain medical conditions, such as chronic liver disease, chronic kidney disease, and diabetes
4. Certain medications, such as phenytoin, cimetidine, and captopril
5. Exposure to certain toxins, such as lead and arsenic
6. Advanced age
7. Female gender

Is there a cure/medications for Acquired pseudoxanthoma elasticum?

There is no cure for acquired pseudoxanthoma elasticum (APXE). However, there are medications that can help manage the symptoms and slow the progression of the disease. These medications include ACE inhibitors, statins, and calcium channel blockers. Additionally, lifestyle modifications such as avoiding smoking and maintaining a healthy diet and exercise routine can help reduce the risk of complications associated with APXE.