Day: January 15, 2015

January 15, 2015

EHLERS-DANLOS SYNDROME  A BRIEF OVERVIEW

EDS is a genetic defect in the collagen molecule itself.  An inherited connective tissue disorder characterized by joint hypermobility, dislocation/subluxations, bleeding, bruising, dermal hyperelasticity, and widespread tissue fragility, skin tearing & poor wound healing.  Unlike Lupus, EDS is not an antigen/antibody problem.  EDS is gene mutations effecting the structure or assembly of different collagen’s.  The cross-linking of the collagen fibrils is thought to be defective. EDS is a very painful & debilitating syndrome. THE SYMPTOMS BELOW OCCUR IN THE NORMAL POPULATION  and are not exclusive to EDS, however due to the increased medication induced bleeding tendencies in the normal population, individuals with EDS may have a higher incidence of pharmacological considerations, especially in Vascular Type EDS.

PAIN & EDS

Nov. 1997, Vol. XII, Number 4 of “Loose Connections”, the official communication link of the EDNF reprinted by permission of Elsevier Science, Inc.  Journal of Pain & Symptom Management,Vol.14,No.2,pp.88-93 Copyright 1997 by the Cancer Pain Relief Committee”. “Chronic Pain is a Manifestation of the Ehlers-Danlos Syndrome”.

Pain and EDS is a simple summary of the seven most striking points about Ehlers-Danlos Syndrome pain.

  1. Moderate to severe pain of diverse distribution is a common every day occurrence, starting early in life and worsening over time.
  2. Pain with EDS is complexly individualized.
  3. EDS is a very painful and debilitating syndrome.
  4. Most EDS patients, but not all, have (at some point) taken some type of medication. Joint pain and instability are the primary cause for use of pain medications.
  5. Chronic dislocation and subluxations can be very painful.
  6. Pain Insomnia has been widely reported by most EDS sufferers, (46)of the (51) individuals interviewed indicated they had chronic pain over the last 6 months or longer.
  7. Areas of pain reported =A total of thirteen different `principal pain locations’ were identified. The elbow, shoulders(1 or both), hands, knees, spine, frequent headaches, stomach aches & Continuous pain in extremities, ankles, feet, toes & hips. The Pain was described as aching, sharp, throbbing or burning & significant enough to experience dysfunction in sleep, physical activity & sexual activity.

LONG TERM USE & LONG ACTING MEDICATION

Pharmacologically, pain can be treated with several different types or combinations of medication, analgesics, opiates, anti-inflammatory drugs and/or antidepressant therapy. It is important to take all medication as directed and on time. Pain is much easier to manage (with less medication)at the first sign of discomfort than it is to treat  or manage ‘out of control’ pain.

Chronic illness sometimes forces the medical profession to be creative in medication management. Difficulty swallowing, Allergies and trauma to soft tissue from injections and/or needle pricks, as well as remembering to take the medication on time makes long-acting medication ideal for the EDS patient. Low dose titration of pain medication allows the body a chance to ‘adjust’ to the introduction of medication. It allows for some autonomy and the lowered incidence in nausea and other side effects like drowsiness, plus, the effective relief of pain decreases patient fears, promoting understanding of the medications, leading to better medication compliance and more comprehensive pain control.

There are many different opiates, analgesics and pain medication that working together with your doctor you should be able to find pain relief that fits your lifestyle.

DISPELLING MYTHS ABOUT ADDICTION & CHRONIC ILLNESS 

MOST pain medications and other drug classifications can create TOLERANCE requiring an adjustment (increase) dosage. This IS NOT ADDICTION. Addiction is misuse or abuse of a drug, usually to obtain a `high’. When  your pain becomes intolerable & the doctor increases your medication, this DOES NOT make you a ‘drug addict’. In fact, most people in pain do not reach a

`high’, just pain control. If your EDS were to `magically’ disappear you would be tapered off the medication & be drug free again. Some of the same holds true to other medications like Steroids & some Antidepressants. Pain can cause nausea, anxiety, agitation, depression, feelings of isolation, hopelessness & helplessness. Good pain control can give you quality of life and increase functioning. Pain Control Clinics and knowledgeable physicians can help you obtain the best medication regime for your pain level and lifestyle. You do not have to suffer in pain.

NO MEDICATION  SHOULD BE  STOPPED ABRUPTLY WITHOUT  FIRST CONSULTING  YOUR DOCTOR

DRUGS THAT INCREASE BLEEDING (Most commonly, but not limited to Vascular EDS)

These drugs increase the risk of prolonged bleeding & other side effects in the normal population and are not exclusive to EDS. Many drugs have aspirin in them, this may increase your risk of bleeding or bruising. You can ask if the same drug comes mixed with Tylenol instead, for example; Percocet instead of Percodan.

NSAIDS NAPROSYN
HEPARIN TORADOL
IBUPROFEN ANAPROX
SEPTRA -DS CORTICOSTEROIDS
ASPIRIN BACTRIM- DS
FIORINAL PERCODAN
MOTRIN PREDNISONE

MIDOL …these are just a few, read your packet inserts, talk to your doctor or pharmacist about potential drug interactions or bad combinations. BE INFORMED!!!

TYLENOL taken in even moderate doses over a long period of time can cause liver damage.

ANTIBIOTICS can irritate a pre-existing ulcer. Use with caution especially in someone with EDS with preexisting Gastrointestinal problems.

IV’s-Should NEVER be FLUSHED with HEPARIN…NORMAL SALINE  works just aswell, without, the added side-effects & potential to increase clotting time.

Xylocaine can be given to numb the site before attempting  to `find a vein’. Some EDS patients DO NOT respond to Local Anesthesia. NEEDLE GAUGE: REGULAR IV’s can be as small as 25.

Blood transfusions or blood products can be given through a 22 Needle Gauge.! You have to speak up before they stick you or it’s too late and you have probably just received ‘normal protocol’ & unnecessary PAIN!

Whole units of blood can be  put through a warmer , unless contraindicated, ask because they probably won’t think of it.

ALLERGIES- A  COPY OF ALL ALLERGIES TO MEDICATION & FOODS or  adverse reactions to certain drugs SHOULD BE  WITH YOU! This should be part of your

MEDIC ALERT  ID– This helps the medical profession help you! List  your diagnosis and all allergies, medications and doctors.

IN SUMMARY 

Pharmacological considerations in people with Ehlers-Danlos Syndrome include ,but are not limited to, several types of drugs that can increase bleeding in the normal population and those EDS sufferers with a pre-existing tendency to bleed must be acutely aware of their current drug regime. It is important, with any chronic illness, to carry copies of, as well as information about any, ALLERGIES (food too), medications or medication interactions. It is important to tell your doctor ALL the medications you take, even over-the-counter drugs, Aspirin/Tylenol/Advil. Always ask if your ‘new’ medication contains Aspirin or is compatible with anything else you may be taking. It is OK to ask for the smallest gauge needle to avoid soft tissue injury. Chronic  pain is a clinical manifestation of Ehlers-Danlos Syndrome. The pain is complexly individualized, diverse in its location & intensity. EDS pain commonly requires intervention by trained professionals, Pain Control Clinics &/or  doctors who are educated and/or willing to learn about this complex syndrome. Pain should be reported immediately. Scale your pain so the doctor can understand how much pain you are in. PAIN-SCALE=(1-5) or (1-10) the highest number being INTOLERABLE. You do not have to live in pain. Pain Clinics, qualified knowledgeable physicians & pharmacists can help you find the best medication regime that fits your lifestyle. Remember your pharmacist is a knowledgeable resource. 

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in “holding together,” strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, “stretchy” (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes.

The different types of EDS were originally categorized in a classification system that used Roman numerals (e.g., EDS I to EDS XI), based upon each form’s associated symptoms and findings (clinical evidence) and underlying cause. A revised, simplified classification system (revised nosology) has since been described in the medical literature that categorizes EDS into six major subtypes, based upon clinical evidence, underlying biochemical defects, and mode of inheritance.

Each subtype of EDS is a distinct hereditary disorder that may affect individuals within certain families (kindreds). In other words, parents with one subtype of EDS will not have children with another EDS subtype. Depending upon the specific subtype present, Ehlers-Danlos syndrome is usually transmitted as an autosomal dominant or autosomal recessive trait.

Symptoms

The symptoms and findings associated with Ehlers-Danlos syndrome (EDS) may vary greatly in range and severity from case to case, depending upon the specific form of the disorder present and other factors. However, the primary findings associated with EDS typically include abnormal “looseness” (laxity) and excessive extension (hyperextension) of joints; susceptibility to partial or complete joint dislocations; chronic joint pain; a tendency to develop degenerative joint disease (osteoarthritis) at an early age; unusually loose, thin, elastic skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes. Due to tissue fragility, affected individuals may easily bruise; experience prolonged bleeding (hemorrhaging) after trauma; have poor wound healing; develop “parchment-like,” thin scarring; and/or have other associated abnormalities.

In many individuals with EDS, associated symptoms and findings may become apparent during childhood. More rarely, depending upon the specific disorder subtype present, certain abnormalities may be apparent beginning at birth (congenital). In addition, in other individuals, such as those with mild disease manifestations, the disorder may not be recognized until adulthood.

The different forms of EDS were formally classified in the 1980s using a Roman numeral system. This categorization identified at least 10 major forms of the disorder based upon genetic and biochemical abnormalities as well as associated symptoms and findings. However, a simplified, revised, updated classification system has since been published in the medical literature that classifies EDS into six primary subtypes as well as some other forms of EDS, based upon the specific underlying biochemical cause, mode of inheritance, major and minor symptoms, and physical findings. The revised classification system serves to further differentiate between the various forms of the disorder as well as some related disorders.

The original classification system differentiates between severe and mild forms of classic EDS (EDS I and II). In the revised categorization, EDS I and II are reclassified as one subtype, known as EDS classical type. According to reports in the medical literature, in individuals with this subtype, associated skin abnormalities may vary greatly, ranging from mild, moderate, to severe in certain affected families (kindreds). EDS classical type may be characterized by excessive laxity and extension of the joints (hypermobility); susceptibility to recurrent sprains and dislocations of certain joints, such as the knees and shoulders; abnormally increased elasticity and extension (hyperextensibility) of the skin; and tissue fragility, potentially leading to degeneration or “splitting” of the skin, abnormal healing of skin wounds, and characteristic, thin, “parchment-” or “paper-like” (papyraceous) scarring that often becomes discolored and widened. Such scarring may occur primarily over certain prominent bony areas (pressure points), such as the shins, knees, elbows, and forehead. In individuals with EDS classical type, additional findings may include the formation of relatively small, fleshy, tumor-like skin growths (molluscoid pseudotumors) and/or hard, round, movable lumps (calcified spheroids) under the skin; unusually “velvety” skin; diminished muscle tone (hypotonia); and/or flat feet (pes planus). EDS classical type may also be characterized by easy bruisability, often occurring in the same areas; abnormal displacement (prolapse) of certain organs due to tissue fragility, such as protrusion of part of the stomach upward through an opening in the diaphragm (hiatal hernia); and/or an increased risk of certain complications after surgical procedures. For example, postsurgical complications may include protrusion of certain organs through weak areas in surrounding membranes, muscles, or other tissues (postsurgical hernias). In addition, some individuals with this subtype may have a deformity of one of the heart valves (mitral valve prolapse), allowing blood to leak backwards into the left upper chamber of the heart (mitral insufficiency), and/or, more rarely, abnormal widening (dilatation) of a region of the aorta, the major blood vessel of the body.

EDS hypermobility type was formerly classified as EDS III or benign hypermobility syndrome. This form of the disorder is primarily characterized by generalized, excessive extension (hypermobility) of the large and small joints. Additional findings may include abnormally increased skin elasticity, an unusually smooth or “velvet-like” consistency of the skin, and/or easy bruising. Skin abnormalities and bruising susceptibility may be extremely variable from case to case. Some individuals with EDS hypermobility type may develop chronic, potentially disabling joint pain and be prone to recurrent dislocations, particularly of the knee, shoulder, and jaw (i.e., temporomandibular) joints.

EDS vascular type (formerly EDS IV or EDS arterial-ecchymotic type) is primarily characterized by unusually thin, transparent skin with prominent underlying veins, particularly in the chest and abdominal areas; a susceptibility to severe bruising from minor trauma; and tissue fragility, potentially resulting in spontaneous rupture of certain membranes and tissues. For example, affected individuals may be prone to spontaneous rupture of certain mid-sized or large arteries or the intestine (bowel), leading to life-threatening complications. Because acute pain in the abdominal or flank area may indicate possible arterial or intestinal rupture, such symptoms require immediate, emergency medical attention. Individuals with EDS vascular type may also be prone to developing abnormal channels between certain arteries and veins (arteriovenous fistula, e.g., carotid-cavernous sinus fistula) and have an increased risk of weakening of arterial walls and associated bulging of certain arteries (aneurysms), such as those supplying the head and neck (carotid arteries) and within the skull (intracranial). Aneurysms may be prone to rupturing, potentially resulting in life-threatening complications. Females with EDS vascular type may also be at risk for arterial bleeding and rupture of the uterus during pregnancy as well as vaginal tearing, uterine rupture, and/or other complications during delivery. In addition, affected individuals may be prone to experiencing certain complications during and after surgical procedures, such as separation of the layers of a surgical wound (dehiscence).

Individuals with EDS vascular type may also have abnormally decreased levels of fatty tissue under skin layers (subcutaneous adipose tissue) of the hands, arms, legs, feet, and face. As a result, some affected individuals may have a characteristic facial appearance, including thin lips; a thin, pinched nose; relatively large, prominent eyes; hollow cheeks; and tight, lobeless ears. In addition, skin of the hands and feet may appear prematurely aged (acrogeria). Additional symptoms and findings associated with this EDS subtype may include a deformity in which the foot is twisted out of position at birth (clubfoot); hypermobility that may be limited to joints of the fingers and toes (digits); the early onset of varicose veins, which are unusually widened, twisted veins visible under the skin; and spontaneous rupture of muscles and tendons. In addition, some with this EDS subtype may be susceptible to abnormal accumulations of air and blood in the chest cavity (pneumohemothorax) and/or associated collapse of the lungs (pneumothorax).

In individuals with EDS kyphoscoliosis type (formerly EDS VI), certain symptoms and findings may be apparent at birth (congenital). These include abnormal sideways curvature of the spine (congenital scoliosis) that becomes progressively severe; diminished muscle tone (hypotonia); and generalized, excessive extension and looseness (laxity) of the joints. In children with the disorder, severe hypotonia may cause delays in the acquisition of certain motor skills, and affected adults may lose the ability to walk by the second or third decade of life. Additional findings associated with EDS kyphoscoliosis type may include easy bruising, tissue fragility and associated degenerative (atrophic) scarring of the skin, a risk of spontaneous arterial rupture, abnormally reduced bone mass (osteopenia), and unusually small corneas (microcornea). In addition, because the opaque, inelastic membrane covering the eyeballs (sclera) may be unusually fragile, minor trauma may result in rupture of the sclera, rupture of the transparent region in the front of the eyes (cornea), and/or detachment of the nerve-rich membrane in the back of the eyes (retina).

EDS arthrochalasia type (formerly EDS VII, Autosomal Dominant [EDS VIIA and VIIB]) is primarily characterized by dislocation of the hips at birth (congenital hip dislocation); severe, generalized, excessive extension of the joints (hypermobility); and recurrent partial dislocations of affected joints (subluxations), such as