Buy Tegretol through the service that maximize your savings

Adverse Event Reporting News - Tegretol carries risk of serious skin conditions in Asian patients

admin — Mon, 12 Jan 2009 03:02:28 +0000

Novartis Pharmaceuticals Canada, following discussion with Health Canada, has revised its Product Monograph for Tegretol (carbamazepine) to include in the WARNINGS section information about the risks of Toxic Epidermal Necrolysis (TEN) and Stevens-Johnson Syndrome (SJS), particularly in patients of Asian descent.
Both conditions involve serious and sometimes fatal dermatologic reactions. The risk of SJS and TEN exists in all patients, but these reactions are generally very rare. However, in some Asian countries the risk is estimated to be approximately 10 times higher than in Western countries.

Related Results

Birth defects and TegretolTegretol-XR receives clearance for marketingTegretol USP, chewable tablets, and oral suspensionNovartis challenges new food-bio need, probes bizarre Tegretol reactionBiovail Announces Filing of Three ANDA’s; Generic Versions of Adalat CC 90mg,…

In studies that included small samples of patients of Han Chinese ancestry a strong association was found between the risk of developing SJS/TEN and the presence of HLA-B1502, an inherited allelic variant of the HLA-B gene. The prevalence of this allele is negligible in Western Caucasian populations but is approximately 5-10% in Han Chinese, and ranges from

Exceptional Parent, The - Anticonvulsant syndrome

admin — Fri, 09 Jan 2009 16:22:47 +0000

I have a 4-year-old boy who may have anticonvulsant syndrome as a result of Tegretol, a medication I had to take during the last two trimesters of my pregnancy to prevent seizures. I am hoping to find someone who knows more about this rare syndrome and what more I can do to help my son. He is developmentally delayed, although is steadily malting progress with the help of occupational, physical, and speech therapy. I would love to talk to both professionals experienced in this field as well as any parents. Thank you.

Related Results

Birth defects and TegretolTegretol-XR receives clearance for marketingTegretol USP, chewable tablets, and oral suspensionTegretol carries risk of serious skin conditions in Asian patientsNovartis challenges new food-bio need, probes bizarre Tegretol reaction

–CK via EP Web Site
COPYRIGHT 2003 EP Global Communications, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

Pediatrics for Parents - Birth defects and Tegretol

admin — Sun, 04 Jan 2009 12:15:30 +0000

Birth Defects and Tegretol
Carbamazepine (Tegretol) is used to treat many medical problems. The list includes epilepsy, bipolar depression, excited psychosis, alcohol withdrawal, and trigeminal neuralgia (facial pain). But what if a woman becomes pregnant while taking carbamazepine? Or if she needs to take the medicine while pregnant to prevent serious problems? What’s the effect on her developing infant?
Tegretol is known to cause specific deformities. Minor facial defects, poor formation of finger and toe nails, and developmental delays have all been reported in children whose mothers took carbamezepine during pregnancy. In one study of 35 live births, 11% has minor facial deformities, 26% defects in nail formation, and 20% experienced developmental delays.

Related Results

Tegretol-XR receives clearance for marketingTegretol USP, chewable tablets, and oral suspensionTegretol carries risk of serious skin conditions in Asian patientsNovartis challenges new food-bio need, probes bizarre Tegretol reactionBiovail Announces Filing of Three ANDA’s; Generic Versions of Adalat CC 90mg,…

Carbamazepine is an excellent drug for many medical conditions. Like many drugs, it can cause potentially serious birth defects. Any woman of the child-bearing age should take appropriate precautions when taking any medicine. There is always the potential of harming a developing fetus.
COPYRIGHT 1989 Pediatrics for Parents, Inc.
COPYRIGHT 2004 Gale Group

Adverse Event Reporting News - Tegretol USP, chewable tablets, and oral suspension

admin — Mon, 29 Dec 2008 21:43:50 +0000

Tegretol-XR (carbamazepine extendedrelease tablets)
BOXED WARNING
Serious Dermatologic Reactions and HLA-B*1502 Allele
Serious and sometimes fatal dermatologic reactions, including toxic epidermal necrolysis (TEN) and Stevens-Johnson Syndrome (SJS), have been reported during treatment with Tegretol. These reactions are estimated to occur in 1 to 6 per 10,000 new users in countries with mainly caucasian populations, but the risk in some Asian countries is estimated to be about 10 times higher. Studies in patients of Chinese ancestry have found a strong association between the risk of developing SJS/TEN and the presence of HLA-B*1502, an inherited allelic variant of the HLA-B gene. HLA-B*1502 is found almost exclusively in patients with ancestry across broad areas of Asia. Patients with ancestry in genetically at-risk populations should be screened for the presence of HLA-B*1502 prior to initiating treatment with Tegretol. Patients testing positive for the allele should not be treated with Tegretol unless the benefit clearly outweighs the risk (see WARNINGS and PRECAUTIONS, Laboratory Tests).

Related Results

Birth defects and TegretolTegretol-XR receives clearance for marketingTegretol carries risk of serious skin conditions in Asian patientsNovartis challenges new food-bio need, probes bizarre Tegretol reactionBiovail Announces Filing of Three ANDA’s; Generic Versions of Adalat CC 90mg,…

WARNINGS
Serious Dermatologic Reactions
SJS/TEN and HLA-B*1502 Allele
Aplastic Anemia and Agranulocytosis
Patients with a history of adverse hematologic reaction to any drug may be particularly at risk of bone marrow depression.
PRECAUTIONS
Laboratory Tests
For genetically at-risk patients [see WARNINGS], high-resolution ‘HLA-B*1502 typing’ is recommended. The test is positive if either one or two HLA-B*1502 alleles are detected and negative if no HLA-B*1502 alleles are detected.
ADVERSE REACTIONS
Initial Section
The most severe adverse reactions have been observed in the hemopoietic system and skin (see BOXED WARNING), the liver and the cardiovascular system.
COPYRIGHT 2008 Washington Information Source, Inc.
COPYRIGHT 2008 Gale, Cengage Learning

Business Wire - Tegretol®-XR receives clearance for marketing

admin — Wed, 24 Dec 2008 10:23:57 +0000

SUMMIT, N.J.–(HealthWire)–May 2, 1996–Ciba-Geigy Corp. announced today that Tegretol(R)-XR (carbamazepine extended-release tablets), the first extended release anti-epileptic drug, recently received U.S. Food and Drug Administration clearance for marketing.
“Tegretol is a medication that physicians and patients have trusted for more than 25 years,” said Ron Califre, senior vice president, Medicine and Clinical Development for Ciba. “Tegretol-XR represents, for many patients, the chance to switch to a more convenient dosing schedule.”

Related Results

Birth defects and TegretolTegretol USP, chewable tablets, and oral suspensionTegretol carries risk of serious skin conditions in Asian patientsNovartis challenges new food-bio need, probes bizarre Tegretol reactionBiovail Announces Filing of Three ANDA’s; Generic Versions of Adalat CC 90mg,…

Tegretol-XR is a new formulation of Tegretol that will allow many patients to switch from 3 or 4 daily doses to a more convenient twice-daily regimen. Available only by prescription in 100mg, 200mg and 400mg tablets, Tegretol-XR is indicated as a first-line monotherapy for the treatment of partial, secondarily generalized, and generalized tonic-clonic seizures. It is expected to be available in August.
The most frequently observed adverse reactions with Tegretol-XR therapy - particularly during the initial phases of therapy - are dizziness, drowsiness, unsteadiness, nausea and vomiting. To minimize the possibility of such reactions, therapy should be initiated at the lowest possible dose. Although reports of transient or persistent decreased platelet or white blood cells are not uncommon in association with the use of Tegretol, the vast majority of cases of leukopenia have not progressed to the more serious conditions of aplastic anemia or agranulocytosis. When initiating therapy with Tegretol-XR, physicians should obtain complete pretreatment hematologic testing as a baseline. As with all anticonvulsant therapy, periodic hematologic evaluations are recommended at the physician’s discretion. Physicians should monitor patient’s plasma levels during conversion to Tegretol-XR or whenever any anticonvulsant therapy formulation is changed.
Tegretol-XR will be marketed by CibaGeneva Pharmaceuticals, a marketing alliance between Ciba-Geigy Corp. of Tarrytown, N.Y., and the corporation’s wholly-owned subsidiary, Geneva Pharmaceuticals, Inc. Ciba is a leading developer and manufacturer of healthcare and agricultural products and speciality chemicals for industry. Ciba is dedicated to discovering, developing, manufacturing and marketing innovative pharmaceuticals that meet unmet medical needs and improve patients’ quality of life. The company has been dedicated to research, drug development and continuing education in the neurosciences for more than 25 years. -0- Note to Editors: Full prescribing information is available by calling 908/277-5758.
CONTACT: Ciba Public Relations
Doug Arbesfeld, 908/277-5758
COPYRIGHT 1996 Business Wire
COPYRIGHT 2008 Gale, Cengage Learning

FDA Requires Warnings about Risk of Suicidal Thoughts and Behavior for Antiepileptic Medications

admin — Fri, 19 Dec 2008 08:34:16 +0000

ROCKVILLE, Md., Dec. 16, 2008-The U.S. Food and Drug Administration today announced it will require the manufacturers of antiepileptic drugs to add to these products’ prescribing information, or labeling, a warning that their use increases risk of suicidal thoughts and behaviors (suicidality). The action includes all antiepileptic drugs including those used to treat psychiatric disorders, migraine headaches and other conditions, as well as epilepsy.
The FDA is also requiring the manufacturers to submit for each of these products a Risk Evaluation and Mitigation Strategy, including a Medication Guide for patients. Medication Guides are manufacturer-developed handouts that are given to patients, their families and caregivers when a medicine is dispensed. The guides will contain FDA-approved information about the risks of suicidal thoughts and behaviors associated with the class of antiepileptic medications.
“Patients being treated with antiepileptic drugs for any indication should be monitored for the emergence or worsening of depression, suicidal thoughts or behavior, or any unusual changes in mood or behavior,” said Russell Katz, M.D., director of the Division of Neurology Products in the FDA’s Center for Drug Evaluation and Research. “ Patients who are currently taking an antiepileptic medicine should not make any treatment changes without talking to their health care professional.”
The FDA today also disseminated information to the public about the risks associated with antiepileptic medications by issuing a public health advisory and an information alert to health care professionals. Health care professionals should notify patients, their families, and caregivers of the potential for an increase in the risk of suicidal thoughts or behaviors so that patients may be closely observed.
The FDA’s actions are based on the agency’s review of 199 clinical trials of 11 antiepileptic drugs which showed that patients receiving antiepileptic drugs had almost twice the risk of suicidal behavior or thoughts (0.43 percent) compared to patients receiving a placebo (0.24 percent). This difference was about one additional case of suicidal thoughts or behaviors for every 500 patients treated with antiepileptic drugs instead of placebo.
Four of the patients who were randomized to receive one of the antiepileptic drugs committed suicide, whereas none of the patients in the placebo group did. Results were insufficient for any conclusion to be drawn about the drugs’ effects on completed suicides. The biological reasons for the increase in the risk for suicidal thoughts and behavior observed in patients being treated with antiepileptic drugs are unknown.
The FDA alerted health care professionals in January 2008 that clinical trials of drugs to treat epilepsy showed increased risk of suicidal thoughts and actions. In July 2008, the FDA held a public meeting to discuss the data with a committee of independent advisors. At that meeting the committee agreed with the FDA’s findings that there is an increased risk of suicidality with the analyzed antiepileptic drugs, and that appropriate warnings should extend to the whole class of medications. The panel also considered whether the drugs should be labeled with a boxed warning, the FDA’s strongest warning. The advisers recommended against a boxed warning and instead recommended that a warning of a different type be added to the labeling and that a Medication Guide be developed.
Acting under the authorities of the Food and Drug Administration Amendments Act of 2007 (FDAAA), the FDA is requiring manufacturers of antiepileptic drugs to submit to the agency new labeling within 30 days, or provide a reason why they do not believe such labeling changes are necessary. In cases of non-compliance, FDAAA provides strict timelines for resolving the issue and allows the agency to initiate an enforcement action if necessary.
The following antiepileptic drugs are required to add warnings about the risk of suicidality:

Carbamazepine (marketed as Carbatrol, Equetro, Tegretol, Tegretol XR)
Clonazepam (marketed as Klonopin)
Clorazepate (marketed as Tranxene)
Divalproex sodium (marketed as Depakote, Depakote ER, Depakene)
Ethosuximide (marketed as Zarontin)
Ethotoin (marketed as Peganone)
Felbamate (marketed as Felbatol)
Gabapentin (marketed as Neurontin)
Lamotrigine (marketed as Lamictal)
Lacosamide (marketed as Vimpat)
Levetiracetam (marketed as Keppra)
Mephenytoin (marketed as Mesantoin)
Methosuximide (marketed as Celontin)
Oxcarbazepine (marketed as Trileptal) Phenytoin (marketed as Dilantin Suspension)
Pregabalin (marketed as Lyrica)
Primidone (marketed as Mysoline)
Tiagabine (marketed as Gabitril)
Topiramate (marketed as Topamax)
Trimethadione (marketed as Tridione)
Zonisamide (marketed as Zonegran)
Some of these medications are also available as generics.
Health care professionals and consumers may report serious adverse events or product quality problems with the use of this product to the FDA’s MedWatch Adverse Event Reporting program either online, by regular mail, fax or phone.

– Online : www.fda.gov/MedWatch/report.htm
– Regular Mail : use postage-paid FDA form 3500 available at: www.fda.gov/MedWatch/getforms.htm
and mail to MedWatch, 5600 Fishers Lane , Rockville , MD 20852-9787
– Fax: (800) FDA-0178
– Phone: (800) FDA-1088
For more information
Information for Health Care Professionals and Public Health Advisory: http://www.fda.gov/cder/drug/infopage/antiepileptics/default.htm
Media Inquiries:
Sandy Walsh, 301-796-4669
Consumer Inquiries:
888-INFO-FDA

Fda Generic Medication Approval Method Adequacy

admin — Wed, 17 Dec 2008 01:55:31 +0000

The FDA applies a rigid rule of what they call bioequivalence trying to make sure that generic medications are identical medicine with equal effects as the original one. When measured in the laboratory and in the simple, small trials with humans, a generic drug must deliver similar active component in the blood of patient virtually similar amount to almost the same proportion as the original medication.

The Food and Drug Administration supposes bioequivalence a substitute for therapeutic equivalency - the equal capacity of two formulations of drugs to cure disease or relieve symptoms. Doctors and pharmacists say that some drugs imitation, demonstrating bioequivalence with the source drug is not sufficient proof that similar drug will produce similar results.

There are a number of possible gaps in the rules of the FDA comparison, specialists say.

1. The FDA tolerance for the difference in the capacity, the release of an active component of the drug, the complex of healing, can be too wide.

2. The agency does not require realistic different formulations of the tests in big group of patients.

3. The FDA might be mistaken by the measurement of a generic medication in the capability to deliver the medication mixture to the blood. Most of the drugs act, in the organs, cell, tissues, not in the bloodstream.

Though the formula of brand-name and generic drug is the same, they could differ in some details. Although the two amounts equal share similar active component, usually look different. These differences can lead to minor variations in the way they act in people.

A branded drugs and their generic equivalent in almost any cases are devised with different dyes, fill materials and binding. Despite all these should come from list of pharmaceutical components approved by FDA, which are, in almost any cases, set up differently in each producer’s product. A version of a medication may use sugar or lactose as an inactive component, other may not. However incidental components such as those can affect the method patients metabolize a drug and dissolve the active component slower or faster. And that may lead to variations in the 2 structures of the effects.

In general, the FDA allows a generic medication to release the eighty and one hundred and twenty five of the active component into the blood, compared with freedom in a single draught of medication original. Range that would be impractical different in the sense that most of the drugs are. Generic manufacturers and the FDA are defending the permissible range of variability as it is permitted between “lots” of the brand.

However, doctors and specialists in pharmacology notify that the FDA range could be too wide for some meds, especially if a medication has a “narrow therapeutic index” thin line between a dose that is ineffective or dangerous.

The variation in the rate at which a brand and generic release his freedom of active component could court tragedy with some meds, too. From this point of view, the experts said that “the formulas extended release” - the doses no more than once a day usually - can place specific problems.

If released formulating its therapeutic agent over twenty hours and other released a large percent in the first 5 hours and too little in the past 5, a patient can have a toxic density of the drug in the morning and gimp along with a dosage dangerously ineffective at the end of the day. In laboratory tests, and in small samples of human subjects, the FDA measures release rates at regular intervals. Pharmacologist, but warn that the intervals might not always be sufficiently fine.

Borgheini reviewed medical lit documenting differences in the effects of psychoactive drugs generic and branded twin. In the case of 3 anti-seizure drugs - valproic acid, phenytoin, carabamazepine (marketed under the trade name Tegretol, Cerebyx, Felbatol), the study found that generic preparations or not to release the correct dosage to patients or blood happened in higher paces of “breakthrough seizures.”

Eventually, the agency requires not a lot of clinical evidence that generic drugs from a proposed work will be similar as the first drug in a wide cross slice of real patients. The FDA carries out quality control on the samples periodically generic post-marketing begins, and doctors and patients can provide issues with a generic medication to the contrary event monitoring system of the FDA. However neither manufacturers of generic drugs, nor does the FDA post-market studies that could indicate the patients are reacting to a different way that the generic brand counterparts.

In the approval process for generic drugs, the FDA usually requires a producer to administer a single dosage of their proposed production to a group of twenty four to forty eight healthy volunteers and then shows blood levels of them periodically to measure the concentrations of substance active. The generic performance is compared then to the first drug in the same category.

However it may be not a good indicator of how big populations of ill patients will permit or respond to an alternative medication that has already been, approval process critics say.

Written for online pharmacy.

Epilepsy – Symptoms , Causes and Treatment

admin — Sat, 13 Dec 2008 02:09:00 +0000

Epilepsy is a common chronic neurological disorder that is characterized by recurrent unprovoked seizures.[1][2] These seizures are transient signs and/or symptoms due to abnormal, excessive or synchronous neuronal activity in the brain.[3] About 50 million people worldwide have epilepsy at any one time.[4] Epilepsy is usually controlled, but not cured, with medication, although surgery may be considered in difficult cases. Not all epilepsy syndromes are lifelong some forms are confined to particular stages of childhood.

What Causes Epilepsy?

This is a tricky question with no clear-cut answer. Often doctors can’t pinpoint exactly what causes epilepsy in a particular individual. But scientists do know that these are some of the things that can make a person more likely to develop epilepsy:

A brain injury, such as from a car crash or bike accident

An infection or illness that affected the developing brain of a fetus during pregnancy

Epilepsy can arise as a result of many different conditions that affect the brain. Examples of these conditions include stroke (resulting from a blockage of the blood supply to parts of the brain), complications during childbirth, infections (such as meningitis, encephalitis, cysticercosis, or brain abscess), head trauma, and certain genetic disorders.

Epilepsy Symptoms

Eyes are generally open.

The person may not appear to be breathing. The person is often breathing deeply after an episode.

The return to consciousness is gradual and should occur within a few moments.

Simple partial - person fully aware; abnormal twitching movement of part of the body, for example, head, eyes, hand or arm, or tingling sensation; person may sense odd smells, sounds or tastes

Complex partial - person experiences odd tastes or smells or dj-vu; dream-like state follows; during an attack, lip smacking, grimacing or fidgeting may occur; can be followed by generalised seizure

How Is Epilepsy Treated?

Drug Therapy

Many drugs are available to treat epilepsy, several of which have only recently been released.

Older, classic medications used to treat epilepsy include:

Dilantin or Phenytek

Phenobarbital

Tegretol or Carbatrol

Vagus nerve stimulation — This procedure involves minor surgery and is a relatively new treatment that helps prevent or lessen the severity of seizures. An electrical stimulator is placed beneath the skin of the upper chest. The stimulator, which emits electrical impulses, is connected to an electrode that is attached to a nerve in the neck through a small incision. A patient with a vagus nerve stimulator continues to take medication but sometimes can reduce the amount or number of medications.

Surgery

Surgery is an option for a small number of patients whose epilepsy cannot be controlled with medication. A good candidate for surgery has seizures that always begin in the same cerebral location, which can be removed (resected) without creating deficits. Neurosurgeons generally avoid performing surgery in areas of the brain responsible for speech, hearing, and other important functions.

What is the prognosis?

Most people with epilepsy lead outwardly normal lives. While epilepsy cannot currently be cured, for some people it does eventually go away. Most seizures do not cause brain damage. It is not uncommon for people with epilepsy, especially children, to develop behavioral and emotional problems, sometimes the consequence of embarrassment and frustration or bullying, teasing, or avoidance in school and other social setting. For many people with epilepsy, the risk of seizures restricts their independence (some states refuse drivers licenses to people with epilepsy) and recreational activities.

Treating Multiple Sclerosis Pain - Anticonvulsants & New Frontiers in Treatment

admin — Sat, 06 Dec 2008 17:45:46 +0000

For the most part, however, acute MS pain can’t be effectively treated with
aspirin, ibuprofen, or other common OTC pain reliever medications or
treatments. “Since most MS pain originates in the central nervous system,
it makes it a lot more difficult to control than joint or muscle pain,”
says Kathleen Hawker, MD, an assistant professor of neurology in the multiple
sclerosis program at the University of Texas Southwestern Medical Center in
Dallas (UTSW).
So what’s the alternative? In many cases, the treatment of choice is one of
a range of anticonvulsant medications, such as Neurontin and Tegretol. “The
main thing that links them all up is that we’re not quite sure how they work –
either for seizures or for pain,” says Hawker. Since the FDA hasn’t
officially approved these anticonvulsants for the treatment of pain, they’re
all being used “off-label,” but Neurontin, for example, is prescribed
five times more often for pain than for seizures, says Hawker.
“In the vast majority of patients, these medications do work,” says
George Kraft, who directs the Multiple Sclerosis Rehabilitation, Research, and
Training Center and the Western Multiple Sclerosis Center at the University of
Washington in Seattle. “There’s a problem, though, in that most of them can
make people sleepy, groggy, or fatigued, and MS patients have a lot of fatigue
anyway.”
The good news: Most pain in MS can be treated. There are more than half a
dozen of these anticonvulsants, and they all have a slightly different
mechanism of action and different side effects. The side effects of these drugs
can also include low blood pressure, possible seizures, and dry mouth. They can
also cause some weight gain.
“Some drugs are so similar to each other that if one drug in the class
fails, another is unlikely to work,” says Hawker. “That’s not the case
with these. Which one you use for which patient depends on the side effect
profile.”
Finding the right anticonvulsant is all about trial and error, says Bethoux.
“We’ll start them at the lowest possible dose of one medication and
increase it until the person feels comfortable or until side effects aren’t
tolerable. If one medication doesn’t work, we’ll try another,” he says.
“It’s a process that can take a long time, but it’s the only way we have to
do this.”
New Frontiers in Treatment
Some patients, however, still haven’t found the right drug and
the right dosage to control their pain. “About 1% to 2% of patients have
extremely refractory pain that’s very hard to manage,” says Kraft. So MS
experts are still looking for options to add to their treatment arsenal.
One intriguing possibility: Botox. The anti-wrinkle injections
popular with Park Avenue socialites have shown promise in helping to control
some types of MS pain. Botox, which acts locally to temporarily paralyze a
nerve or muscle, has been used for years at some multiple sclerosis clinics,
including Hawker’s, to manage spasticity and bladder problems.
“Serendipitously, we found that it also seemed to have an effect on
pain,” she says. “It’s far from being a known treatment for pain in MS
at this point, but it’s an exciting possibility.”

Fabry Disease – Causes and Symptoms of Fabry Disease

admin — Thu, 04 Dec 2008 14:03:57 +0000

Fabry disease is one of several genetically inherited diseases called lysosomal storage disorders. It causes a wide range of signs and symptoms that can range from mild to severe and life threatening. This site connects the Fabry community to information about the causes, diagnosis and management of Fabry disease. The site also provides support to patients, families, and healthcare providers.r

Causes of Fabry Disease

The gene that encodes a-Gal A has been isolated and sequenced, and more than 245 different mutations (missense, nonsense, splice, deletion, and insertion errors) have been reported. Attempts to correlate genotype with clinical presentation have been confounded by the fact that very few recurrent mutations have been reported. The typical interfamilial variability of the disease phenotype may be due to other modifying factors, which may be genetically or environmentally derived.

Fabry disease is inherited as an X-linked disorder, meaning that the defective gene is carried on the X (female) chromosome. This means that for a mother who carries the defective gene, each of her sons has a 50% chance of inheriting the disorder and each of her daughters has a 50% chance of being a carrier

All of our hereditary information is contained on genes. We have genes that determine our physical characteristics like our hair color, eye color, height, etc. We also have genes that are responsible for specific functions such as our metabolism and growth.

The deficiency in this enzyme causes certain lipid molecules, called glycosphingolipids, to accumulate in the body’s tissues, particularly the heart, kidneys, eyes and nerve tissue.

Symptoms of Fabry Disease

Symptoms usually begin during childhood or adolescence and include burning sensations in the hands that gets worse with exercise and hot weather and small, raised reddish-purple blemishes on the skin. Some boys will also have eye manifestations, especially cloudiness of the cornea.

The symptoms depend on an individual’s level of enzyme deficiency. If the deficiency is severe, symptoms may develop during childhood or adolescence. If it’s less severe, they’ll probably develop later in life.

Red, raised lesions known as angiokeratomas occur on the skin and within the mouth. The ability to sweat is decreased. The cornea and lens of the eye become clouded. Later, kidney failure occurs which secondarily causes hypertension. Heart function can also be impaired.

The pain in the hands and feet usually responds to medications such as Tegretol (carbamazepine) and dilantin. Gastrointestinal hyperactivity may be treated with metoclopramide or Lipisorb (a nutritional supplement). Early experiments have indicated that enzyme replacement may be useful.

Kidney complications are a common and serious effect of the disease; renal insufficiency and renal failure may worsen throughout life. Proteinuria is often the first sign of kidney involvement. Cardiac complications occur when Gb3 builds up in different heart cells; heart related effects worsen with age and may lead to increased risk of heart disease.

Symptoms of Fabry disease may include the appearance of clusters of wart-like discolorations on the skin (angiokeratomas), abdominal pain, and/or visual impairment. Later in the course of the disease, kidney failure, heart irregularities, and/or progressive neurological abnormalities may cause serious complications. Fabry disease, which is inherited as an X-linked recessive trait, primarily affects males. A milder form of the disease has been identified in females.