About guenther porphyria
What is guenther porphyria?
Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. The major symptom of this disorder is hypersensitivity of the skin to sunlight and some types of artificial light, such as fluorescent lights (photosensitivity). After exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) and the fluid-filled sacs rupture, and the lesions often get infected. These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. CEP is inherited as an autosomal recessive genetic disorder. Typically, there is no family history of the disease. Both parents are usually healthy, but each carries a defective gene that they can pass to their children. Affected offspring have two copies of the defective gene, one inherited from each parent.
CEP is one of a group of disorders known as the porphyrias. Each porphyria is characterized by abnormally high levels of particular chemicals (porphyrins) in the body due to deficiencies of certain enzymes in the step-wise synthesis of heme, the essential component of hemoglobin and various hemo-proteins. The porphyrias can be classified as cutaneous or acute depending on their respective manifestations (See www.porphyriafoundation.com). There are at least seven types of porphyria. The symptoms associated with the various types of porphyria differ, depending upon the specific enzyme that is deficient. People who have one type of porphyria do not develop the other types, however, rare patients have had two different porphyrias.
What are the symptoms for guenther porphyria?
Siblings, even identical twins, with the disease can have different levels of severity. Some people who have Gaucher disease have only mild or no symptoms.
Most people who have Gaucher disease have varying degrees of the following problems:
- Abdominal complaints. Because the liver and especially the spleen can enlarge dramatically, the abdomen can become painfully distended.
- Skeletal abnormalities. Gaucher disease can weaken bone, increasing the risk of painful fractures. It can also interfere with the blood supply to your bones, which can cause portions of the bone to die.
- Blood disorders. A decrease in healthy red blood cells (Anemia) can result in severe Fatigue. Gaucher disease also affects the cells responsible for clotting, which can cause easy bruising and nosebleeds.
More rarely, Gaucher disease affects the brain, which can cause abnormal eye movements, muscle rigidity, swallowing difficulties and Seizures. One rare subtype of Gaucher disease begins in infancy and typically results in death by 2 years of age.
What are the causes for guenther porphyria?
Autosomal recessive inheritance pattern Open pop-up dialog box Close Autosomal recessive inheritance pattern Autosomal recessive inheritance pattern
To have an autosomal recessive disorder, you inherit two changed genes (mutations), one from each parent. These disorders are usually passed on by two carriers. Their health is rarely affected, but they have one changed gene (recessive gene) and one unaffected gene (dominant gene) for the condition. Two carriers have a 25% chance of having an unaffected child with two unaffected genes (left), a 50% chance of having an unaffected child who also is a carrier (middle), and a 25% chance of having an affected child with two recessive changed genes (right).
Gaucher disease is passed along in an inheritance pattern called autosomal recessive. Both parents must be carriers of a Gaucher changed (mutated) gene for their child to inherit the condition.
What are the treatments for guenther porphyria?
While there's no cure for Gaucher disease, a variety of treatments can help control symptoms, prevent irreversible damage and improve quality of life. Some people have such mild symptoms that they don't need treatment.
Your doctor likely will recommend routine monitoring to watch for disease progression and complications. How often you'll need to be monitored will depend on your situation.
Many people who have Gaucher disease have seen improvements in their symptoms after beginning treatment with:
- Enzyme replacement therapy. This approach replaces the deficient enzyme with artificial ones. These replacement enzymes are given in an outpatient procedure through a vein (intravenously), typically in high doses at two-week intervals. Occasionally people have an allergic or hypersensitivity reaction to enzyme treatment.
- Miglustat (Zavesca). This oral medication appears to interfere with the production of fatty substances that build up in people with Gaucher disease. Diarrhea and weight loss are common side effects.
- Eliglustat (Cerdelga). This drug also seems to inhibit the production of fatty substances that build up in people with the most common form of Gaucher disease. Possible side effects include fatigue, headache, nausea and diarrhea.
- Osteoporosis drugs. These types of medication can help rebuild bone weakened by Gaucher disease.
Surgical and other procedures
If your symptoms are severe and you're not a candidate for less invasive treatments, your doctor might suggest:
- Bone marrow transplant. In this procedure, blood-forming cells that have been damaged by Gaucher disease are removed and replaced, which can reverse many of Gaucher signs and symptoms. Because this is a high-risk approach, it's performed less often than is enzyme replacement therapy.
- Spleen removal. Before enzyme replacement therapy became available, removing the spleen was a common treatment for Gaucher disease. Now this procedure typically is used as a last resort.
What are the risk factors for guenther porphyria?
People of Eastern and Central European Jewish (Ashkenazi) ancestry are at higher risk of developing the most common variety of Gaucher disease.
Is there a cure/medications for guenther porphyria?
Congenital erythropoietic porphyria (CEP)/guenther porphyria is a metabolic disorder that affects the production of haem, the iron-containing substance that binds oxygen to red blood cells. Because it was first described by Hans Gunther, it is also known as gunther porphyria.
How is congenital erythropoietic porphyria treated?
- CEP lasts a lifetime.
- To reduce symptoms and damage, it is essential to safeguard the skin from all forms of sunlight.
- Indoor environment, incandescent lamps are preferable to fluorescent lamps, and protective films can be applied to windows to reduce the amount of light that causes porphyria.
- Because porphyrins respond with visible light, many sunscreens are ineffective. Those containing zinc and titanium, as well as mineral makeup, may offer some protection.
- Sun protective clothing, such as thickly knitted long-sleeve shirts, long pants, broad-brimmed hats, bandanas, and gloves, is more effective.
- Supplemental Vitamin D capsules should be taken.
- Other reported treatment options include:
- High doses of beta carotene to absorb light energy
- Low doses of hydroxychloroquine to increase porphyrin excretion
- Haem suppression via blood transfusion.
In a few cases, bone marrow transplantation has been successful, though long-term outcomes are not yet available. This treatment is currently being tested.
Mutilation and deformation of face and hand,Hair growth in body
Blisters,Swelling,Erosion of skin,Inflamed eyes,Reddish or pink urine,Anaemia