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Archive for the ‘Conditions and Diseases’ Category

Cryopyrin Associated Periodic Syndromes (CAPS)

Monday, December 21st, 2009

CAPS (cryopyrin-associated periodic syndrome) is a group of rare genetic diseases that can cause rashes, fevers, joint pain, and other inflammatory symptoms. These symptoms often occur after exposure to cold or damp air or a drop in temperature, but symptoms may also show up for no clear reason. Cryopyrin is a protein responsible for triggering the inflammation and painful symptoms of CAPS. A malfunction in this protein is what these diseases have in common. Three syndromes comprise CAPS: Familial Cold Auto-inflammatory Syndrome (FCAS), (previously termed Familial Cold Urticaria), Muckle-Wells Syndrome (MWS) and Neonatal-Onset Multisystem Inflammatory Disease (NOMID), which also is referred to as Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCA).

Familial Cold Autoinflammatory Syndrome is the most common and least severe type.
* Symptoms: Rash, headache, fever, feeling tired, sore or red eyes, and muscle or joint pain
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature
* Duration of symptoms: Typically last no more than 24 hours

Muckle-Wells Syndrome is more severe than FCAS.
* Symptoms: Those symptoms listed above, as well as loss of hearing. High protein levels are detected during screening and are a sign of the disease
* Onset of symptoms: At birth or, rarely, later in childhood
* Trigger of symptoms: Exposure to cold temperature, weakness of the body, or other reasons that are not yet known
* Duration of symptoms: Usually last between 1 and 3 days


Neonatal-Onset Multisystem Inflammatory Disease is the most severe type.
* Symptoms: All of the above mentioned symptoms, as well as loss of eyesight, swelling of the knees, and mental disability
* Onset of symptoms: Almost always at birth
* Trigger of symptoms: Reasons that are not yet known
* Duration of symptoms: Continuous with symptoms worsening from time to time

Diagnosis of CAPS is often missed due to the rarity of these conditions (low index of suspicion). Furthermore, some symptoms of CAPS may be similar to findings of more common diseases such as systemic JIA and systemic lupus erythematosus. Some features of FCAS may be mistaken for Acquired Cold Urticaria (ACU), a more prevalent condition. Both demonstrate cold-induced rash; however, in ACU, the rash is usually localized to sites of direct cold exposure, whereas in FCAS, the inflammation is more generalized, being systemic in nature.

Cryopyrin-Associated Periodic Syndromes are a rare and newly discovered group of autosomal-dominant disorders that can best be diagnosed through analysis of family history, compilation of clinical history, including age of primary presentation and frequency/duration of episodes, physical examination, laboratory and histological testing, and genetic analysis. Not all CAPS patients have detectable genetic mutations.

Are you or other family members troubled by recurring rashes, fevers, aching joints, and other symptoms? It’s time to take action. Learn about CAPS – Cryopyrin-Associated Periodic Syndromes, a group of rare genetic diseases that runs in families and can be passed down through generations at CapsFamilyConnections.com. Take a few minutes to complete the screener. Your answers can help you take a more active role in your medical care, and that of others.

Symptoms And Causes Of Epilepsy

Thursday, September 17th, 2009

Epilepsy is a condition of the nervous system that has the ability to stimulate an abnormal amount of electricity activity that will come about within a person’s brain. This health condition has the power to be caused by tumors, an infection in the brain, or by a certain amount of brain damage from head trauma. Though a good deal research has been done there are several cases in which the cause is not known.

The main symptom of epilepsy are seizures. Counting on the harshness of the development will depend on the type of seizures that you will hurt from. Everybody is different and because of this the seizure will impact them in a contrasting way that might be mild to intense.

Some of the mild types will last for a couple of seconds and be barely acknowledged. Others will last for a few minutes and have the power to induce the individual to lose awareness. Because of this they will not have the power to remember what occurred or even understand what they just experienced.

The easiest epileptic seizures to acknowledge and identify are the kinds that will make you to fall onto the ground and constrain the muscles in your body. When they tighten they will start to jerk in an uncontrolled fashion. Nevertheless, there are some other kinds of seizures that are harder to acknowledge because they do not induce this to come about.

Some people will just have muscle twitches or will look off into space for a few seconds. Others may smell things that are peculiar or have optical problems in which they see peculiar shapes or bright lights. One thing that we are sure of is that the epileptic symptoms have the ability to occur at any time and without any warning.

If you want to learn more about Epilepsy, visit at www.epilepsyadvocate.com to know useful information. It’s a community of people and their families living with all types of epilepsy. Get to know the inspirational stories of Epilepsy Advocates, people like you who are finding ways to take control of their epilepsy and their potential. Come back often for more information, insight, and support. And be inspired today—hear the stories their Advocates are sharing.