Diseases

Pseudoxanthoma elasticum – Causes, Symptoms & Treatment

Pseudoxanthoma elasticum

Pseudoxanthoma elasticum ( PXE ) is a rare hereditary disease also known as Grönblad-Strandberg syndrome. It primarily affects the skin, eyes and blood vessels.

Was ist Pseudoxanthoma elasticum?

The disease pseudoxanthoma elasticum is also called elastorrhexis generalista or Grönblad-Strandberg syndrome . It is a hereditary disease. The elastic fibers of the connective tissue are affected. Grönblad-Strandberg syndrome manifests itself in the tissues of the skin, in the vessels, in the cardiovascular system and in the gastrointestinal tract.

The eyes are often involved as well. About 1,000 people are affected by the disease nationwide. However, the course of the disease is very different and not everyone affected shows all the symptoms. In addition, the diagnosis is often difficult, so scientists assume a high number of undetected PXE cases.

causes

Pseudoxanthoma elasticum is inherited in an autosomal recessive manner. The defective allele must therefore be present on both homologous chromosomes for the disease to break out. The mutation is found on chromosome 16. There it affects a so-called transmembrane ATP-binding transporter.Due to this genetic defect , more calcium is stored in the elastic fibers of the connective tissue. This causes the fibers to become brittle and break into short pieces. The changes caused by this are usually first visible on the neck. However, the disease progresses slowly, so that later the entire body can be affected.

Symptoms, Ailments & Signs

The first symptoms of Grönblad-Strandberg syndrome usually appear on the neck, in the crook of the elbow, on the trunk and in the region around the navel. But the armpits, the flexor sides of the large joints, groin, hollow of the knee, rectum or vagina can also be affected. The skin lesions are usually arranged symmetrically and have poorly defined borders.

The skin surface is yellowish in color and nodular. Prominent skin folds appear. These are particularly visible when the skin is stretched. Yellowish skin changes also develop on the oral mucosa. Since the disease affects the elastic fibers of connective tissue, the manifestations are also found on the elastic-type arteries. The large arteries in particular belong to this type.

Arteriosclerosis occurs very early in the patient . There is a risk of massive bleeding in the gastrointestinal tract , lungs , urogenital area, brain and heart. The calcifications not only make the arteries porous, they also narrow them. Not only the large arteries are affected by the narrowing, but all arterial blood vessels in the body.

The narrowing of the leg arteries causes peripheral arterial disease with pain when walking or even pain at rest. Patients with Pseudoxanthoma elasticum also suffer from high blood pressure much more frequently than healthy people.

The fundus mirror shows dark stripes around the papilla. These streaky changes are also known as android streaks. They are probably the result of bleeding. Bleeding of the retina occurs more frequently as the disease progresses. Between the ages of 30 and 40 , the eyesight of those affected deteriorates significantly. This process can continue to the point of blindness.

Diagnosis & disease progression

Since the disease is very rare, very few doctors think of PXE when the first skin symptoms appear. However, if there is a suspicion, a skin biopsy is usually carried out. In the histopathology, the removed elastic connective tissue appears clumpy and fragmented. Calcium salts are found between the normal collagen fibers. However, a clear diagnosis is not always possible on the basis of the skin preparation.

Changes in the area of ​​scars and actinic elastosis must be excluded in the differential diagnosis. Therefore, molecular diagnostics may be necessary. The mutation in chromosome 16 can be detected in a mutation analysis in gene ABCC6.

complications

First and foremost, this disease causes various skin complaints and, above all, skin changes. Those affected suffer from itching or a rash. Especially on the face or other visible parts of the body, these changes can be very uncomfortable and lead to inferiority complexes or a significantly reduced sense of self-esteem.In many cases, this disease also causes symptoms in the region of the stomach and intestines, so that those affected suffer from bleeding in the stomach. This disease can also lead to high blood pressure or anemia. Furthermore, patients also suffer from visual problems, which can appear relatively suddenly and in most cases without any particular reason. In the worst case, the patient becomes completely blind.

Unfortunately, a causal treatment of the disease is not possible. In some cases, the complaints can be limited. Those affected are also dependent on regular examinations in order to avoid further complications. The patient’s life expectancy may also be reduced by the disease.

When should you go to the doctor?

In the case of pseudoxanthoma elasticum, a doctor must be consulted in any case. Only timely medical treatment can prevent further complications. Since Pseudoxanthoma elasticum is a hereditary disease, this disease can only be treated purely symptomatically and not causally. In order to avoid further inheritance, the person concerned can undergo genetic counseling if they wish to have children. A doctor should be consulted if the patient suffers from various skin changes. The skin can turn yellow or brown and have a negative effect on the aesthetics of the person concerned.

Patients often also suffer from lung or digestive problems. High blood pressure can also indicate pseudoxanthoma elasticum and should then be examined by a doctor if it lasts longer. Furthermore, reduced vision of the patient is one of the symptoms of pseudoxanthoma elasticum. The disease can be diagnosed by a general practitioner . However, further treatment requires a visit to a specialist.

Treatment & Therapy

So far there is no therapy that enables a cure for the disease. The genetic cause of the calcium deposits cannot be eliminated, so that the elastic connective tissue fibers gradually harden. Due to the increased risk of bleeding and the risk of blindness , the patient’s state of health must be checked regularly by a doctor.

Particular caution is required when drugs that increase blood flow must be used. Although these alleviate the symptoms caused by the vasoconstriction, they can be life-threatening in the event of bleeding. Movements and activities that can cause bleeding should be strictly avoided.

Surgery may be necessary for individual symptoms of Grönblad-Strandberg syndrome. Surgery is often the last resort to save patients from going blind. Hopes are placed in new therapies such as gene therapy or stem cell research.

Many patients with pseudoxanthoma elasticum suffer from pain due to peripheral arterial disease. A low-cholesterol diet in combination with running training can provide relief here. The blood circulation in the legs is stimulated and the progression of the disease is prevented or slowed down.

Regular running dilates the small blood vessels in the legs. So-called collaterals are formed. Collaterals are a kind of “bypass”. The blood can flow over the collaterals, thus bypassing the narrowed arteries in the leg.

prevention

Pseudoxanthoma elasticum is a hereditary disease . Preventive measures are not known. If the disease is suspected, a doctor should be consulted as soon as possible. Although the disease cannot be cured, early treatment can slow the progression of the disease. Long-term effects such as blindness or diabetes can thus possibly be prevented.

aftercare

A pseudoxanthoma elasticum requires specific follow-up care in order to avoid secondary diseases that can result from the pseudoxanthoma elasticum. The key here is to avoid going blind. For this purpose, regular examinations of the fundus of the eye should take place at the ophthalmologist. This can detect bleeding in the retina at an early stage and take countermeasures to prevent blindness.

Furthermore, taking blood-thinning medication (Macumar) should be avoided in any case, as this greatly increases the risk of bleeding throughout the body. Instead, taking medications that thicken the blood may be more helpful, especially if there is bleeding in the stool or bleeding in the retina.

In addition, a diet rich in vitamin K (green vegetables) can help reduce the tendency to bleed as a result of pseudoxanthoma elasticum. In addition, regular examinations of the lungs, the heart and the vessels, as well as the brain must take place in order to be able to detect and treat any bleeding, developing arteriosclerosis and pulmonary embolism at an early stage.

This takes place with imaging procedures (MRI, CT, X-ray, ultrasound). Existing high blood pressure must also be treated with medication, as this increases the risk of vascular diseases. In addition, patients should refrain from smoking and alcohol consumption in order to keep the vascular stress as low as possible. In addition, exercise can prevent atherosclerosis.

You can do that yourself

Pseudoxanthoma elasticum is a very rare genetic connective tissue disease that cannot be cured. However, it is possible to slow down individual disease processes through self-help. The skin changes lead in particular to cosmetic problems. The development of unsightly skin folds can be delayed by self-help measures.

Above all, the patient should reduce the exposure to light on the skin by avoiding going to the solarium, going to the beach or using sunscreen . Furthermore, smoking should be avoided and severe overweight as well as extreme underweight should be avoided. Physical training and balanced dietalso counteract rapid skin changes. Self-help groups can discuss cosmetic options for covering skin folds. Moderate exercise and reducing body weight also have a positive effect on the cardiovascular system. Eye functions should be checked regularly by a doctor to avoid possible sudden loss of vision or even blindness.

Depending on the individual findings, the rules of conduct can be discussed with the doctor in individual cases. However, the basic rule is that the patients do moderate physical activity, eat a balanced diet and strictly abstain from smoking. Regular visits to the doctor to have blood pressure, blood lipid levels and eyes examined are also important for the patient. Since the disease often leads to psychological stress, psychological or psychiatric support may be useful.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.