“Ehlers Danlos syndrome (EDS) is a group of hereditary connective tissue disorders that manifests clinically with skin hyperelasticity, hypermobility of joints, atrophic scarring, and fragility of blood vessels. It is largely diagnosed clinically, although identifying the gene encoding the collagen or proteins interacting with it is necessary to identify the type of EDS. Identifying the type of EDS to guide management and counseling is important. In 2017, a new international classification of EDS was proposed with 13 different variants. This syndrome is heterogeneous and has been classified into six types (classical, vascular, hypermobile, arthrochalasis, kyphoscoliotic, and dermatosparaxis), with the causative collagen pathology being different for each type.

The pathophysiology of most Ehlers Danlos syndrome subtypes involves heritable mutations in collagen synthesis and/or processing. The inheritance pattern of these mutations is variable, including autosomal dominant and recessive inheritance involving different mutations; however, it is worth noting that there are reports of spontaneous mutations causing identical genotypes and phenotypes. The collagen affected by these mutations is integral to every body system, from the skin to the integrity of the vasculature, and as such, the symptoms of the disease can be variable and widespread.

The skin is usually white in color and soft to the touch, and underlying vessels can become apparent. The skin has a doughy feel and is easily hyperextensible. It is easily stretchable and immediately returns to its original state after release. Molluscoid pseudotumors are small, spongy outgrowths observed over scars and pressure points. They are commonly found in patients with type I EDS.

Smaller, deep, and movable nodules are often palpable in the subcutaneous tissue. They can be observed in the arms and over the tibia. Radiography may reveal calcification. The fragility of dermal skin with frequent bruises and lacerations is common. The joints are hyperextensible, but the degree of involvement varies. The digital joints are most commonly influenced, but alterations can be present in all the joints.”

National Library of Medicine-NIH (https://www.ncbi.nlm.nih.gov/books/NBK549814/)

each pt varies in intensity

What is Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome is a group of inherited disorders that affect your connective tissues — primarily your skin, joints and blood vessel walls. Connective tissue is a complex mixture of proteins and other substances that provide strength and elasticity to the underlying structures in your body.

People who have Ehlers-Danlos syndrome usually have overly flexible joints and stretchy, fragile skin. This can become a problem if you have a wound that requires stitches, because the skin often isn’t strong enough to hold them.

A more severe form of the disorder, called vascular Ehlers-Danlos syndrome, can cause the walls of your blood vessels, intestines or uterus to rupture. Because vascular Ehlers-Danlos syndrome can have serious potential complications in pregnancy, you may want to talk to a genetic counselor before starting a family.

Symptoms of Ehlers-Danlos syndrome:

There are many different types of Ehlers-Danlos syndrome, but the most common signs and symptoms include:

• Overly flexible joints. Because the connective tissue that holds joints together is looser, your joints can move far past the normal range of motion. Joint pain and dislocations are common.
• Stretchy skin. Weakened connective tissue allows your skin to stretch much more than usual. You may be able to pull a pinch of skin up away from your flesh, but it will snap right back into place when you let go. Your skin might also feel exceptionally soft and velvety.
• Fragile skin. Damaged skin often doesn’t heal well. For example, the stitches used to close a wound often will tear out and leave a gaping scar. These scars may look thin and crinkly.

Symptom severity can vary from person to person and depends on the specific type of Ehlers-Danlos syndrome that you have. The most common type is called hypermobile Ehlers-Danlos syndrome.

Vascular Ehlers-Danlos syndrome

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Vascular Ehlers-Danlos syndrome can weaken your heart’s largest artery (aorta), as well as the arteries to other regions of your body. A rupture of any of these larger blood vessels can be fatal. The vascular type can also weaken the walls of the uterus or large intestines — which also may rupture.

Causes:

Different types of Ehlers-Danlos syndrome are associated with a variety of genetic causes, some of which are inherited and passed on from parent to child. If you have the most common form, hypermobile Ehlers-Danlos syndrome, there’s a 50% chance that you’ll pass on the gene to each of your children.

Complications:

Complications depend on the types of signs and symptoms you have. For example, overly flexible joints can result in joint dislocations and early-onset arthritis. Fragile skin may develop prominent scarring.

People who have vascular Ehlers-Danlos syndrome are at risk of often fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, also may rupture. Pregnancy can increase the risk of a rupture in the uterus.

Prevention:

If you have a personal or family history of Ehlers-Danlos syndrome and you’re thinking about starting a family, you may benefit from talking to a genetic counselor — a health care professional trained to assess the risk of inherited disorders. Genetic counseling can help you understand the inheritance pattern of the type of Ehlers-Danlos syndrome that affects you and the risks it poses for your children.

Diagnosing Ehlers-Danlos syndrome:

Diagnosing rests on the criteria, physical examination, and quite often an extensive detailed family history by the M.D.  Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems. For hypermobile Ehlers-Danlos syndrome, the most common form, there is no genetic testing available.

Treatments:

Unfortunately there is no cure for Ehlers-Danlos syndrome, but treatment can help you manage your symptoms and prevent further complications through the following:

Medications

Your doctor may prescribe drugs to help you control:

• Pain. Over-the-counter pain relievers — such as acetaminophen (Tylenol, others) ibuprofen (Advil, Motrin IB, others) and naproxen sodium (Aleve) — are the mainstay of treatment. Stronger medications are only prescribed for acute injuries.
• Blood pressure. Because blood vessels are more fragile in some types of Ehlers-Danlos syndrome, your doctor may want to reduce the stress on the vessels by keeping your blood pressure low.

Physical therapy

Joints with weak connective tissue are more likely to dislocate. Exercises to strengthen the muscles and stabilize joints are the primary treatment for Ehlers-Danlos syndrome. Your physical therapist might also recommend specific braces to help prevent joint dislocations.

Surgical and other procedures

Surgery may be recommended to repair joints damaged by repeated dislocations, or to repair ruptured areas in blood vessels and organs. However, the surgical wounds may not heal properly because the stitches may tear through the fragile tissues.

“Diagnosing lupus is difficult because signs and symptoms vary considerably from person to person. Signs and symptoms of lupus may change over time and overlap with those of many other disorders.

No one test can diagnose lupus.

Treatment for lupus depends on your signs and symptoms. Determining whether you should be treated and what medications to use requires a careful discussion of the benefits and risks with your doctor.

As your signs and symptoms flare and subside, you and your doctor may find that you’ll need to change medications or dosages.

What you can do is before your appointment, you may want to write a list of answers to the following questions:

• When did your symptoms begin? Do they come and go?
• Does anything seem to trigger your symptoms?
• Have your parents or siblings had lupus or other autoimmune disorders?”

MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/lupus/diagnosis-treatment/drc-20365790)

Diagnosing Lupus:

Diagnosing lupus is difficult because signs and symptoms vary considerably from person to person. Signs and symptoms of lupus may vary over time and overlap with those of many other disorders. No one test can diagnose lupus. The combination of blood and urine tests, signs and symptoms, and physical examination findings leads to the diagnosis.  Tests the MD will order:

Laboratory tests

Blood and urine tests may include:

• Complete blood count. This test measures the number of red blood cells, white blood cells and platelets as well as the amount of hemoglobin, a protein in red blood cells. Results may indicate you have anemia, which commonly occurs in lupus. A low white blood cell or platelet count may occur in lupus as well.
• Erythrocyte sedimentation rate. This blood test determines the rate at which red blood cells settle to the bottom of a tube in an hour. A faster than normal rate may indicate a systemic disease, such as lupus. The sedimentation rate isn’t specific for any one disease. It may be elevated if you have lupus, another inflammatory condition, cancer or an infection.
• Kidney and liver assessment. Blood tests can assess how well your kidneys and liver are functioning. Lupus can affect these organs.
• Urinalysis. An examination of a sample of your urine may show an increased protein level or red blood cells in the urine, which may occur if lupus has affected your kidneys.
• Antinuclear antibody (ANA) test. A positive test for the presence of these antibodies — produced by your immune system — indicates a stimulated immune system. While most people with lupus have a positive ANA test, most people with a positive ANA do not have lupus. If you test positive for ANA, your doctor may advise more-specific antibody testing.If your doctor suspects that lupus is affecting your lungs or heart, he or she may suggest:
  

• Chest X-ray. An image of your chest may reveal abnormal shadows that suggest fluid or inflammation in your lungs.

• Ultrasound maybe used in where a M.D. orders a Echocardiogram. It’s a a noninvasive ultrasound test that evaluates heart function.This test uses sound waves to produce real-time images of your beating heart. It can check for problems with your valves and other portions of your heart.Lupus can harm your kidneys in many different ways, and treatments can vary, depending on the type of damage that occurs. In some cases, it’s necessary to test a small sample of kidney tissue to determine what the best treatment might be. The sample can be obtained with a needle or through a small incision.
• First see a specialist for Lupus who is more out in knowing what to look for (just like a cardiologist for cardiac problems or endocrinologist for diabetes, etc…) So set up an appointment with a doctor to be examined!

Treatments for Lupus:

1. Biopsy

2. The M. D. will do a physical and determine whether your signs and symptoms your experiencing.  Treatment for lupus depends on your signs and symptoms and the cause for it so treatment varies. The symptoms should be treated as lupus and what medications to use requires a careful discussion of the benefits and risks with your doctor. As your signs and symptoms flare and subside, you and your doctor may find that you’ll need to change medications or dosages.

3.Medications, this could include the following:

a. Nonsteroidal anti-inflammatory drugs (NSAIDs).  This could include, over-the-counter NSAIDs, such as naproxen sodium (Aleve) and ibuprofen (Advil, Motrin IB, others), may be used to treat pain, swelling and fever associated with lupus. Stronger NSAIDs are available by prescription. Side effects of NSAIDs include stomach bleeding, kidney problems and an increased risk of heart problems.

b. Antimalarial drugs.  Medications commonly used to treat malaria, such as hydroxychloroquine (Plaquenil), also can help control lupus. Side effects can include stomach upset and, very rarely, damage to the retina of the eye.

c. Corticosteroids  This could include Prednisone and other types of corticosteroids can counter the inflammation of lupus but often produce long-term side effects — including weight gain, easy bruising, thinning bones (osteoporosis), high blood pressure, diabetes and increased risk of infection. The risk of side effects increases with higher doses and longer term therapy.

d. Immunosuppressants.  These drugs suppress the immune system which may be helpful in serious cases of lupus. Examples include azathioprine (Imuran, Azasan), mycophenolate (CellCept), leflunomide (Arava) and methotrexate (Trexall). Potential side effects may include an increased risk of infection, liver damage, decreased fertility and an increased risk of cancer. A newer medication, belimumab (Benlysta), also reduces lupus symptoms in some people. Side effects include nausea, diarrhea and fever.Take steps to care for your body if you have lupus. Simple measures can help you prevent lupus flares and, should they occur, better cope with the signs and symptoms you experience.

4. Other treatments could include:

• See your doctor regularly. Having regular checkups instead of only seeing your doctor when your symptoms worsen may help your doctor prevent flare-ups, and can be useful in addressing routine health concerns, such as stress, diet and exercise that can be helpful in preventing lupus complications.
• Get adequate rest. People with lupus often experience persistent fatigue that’s different from normal tiredness and that isn’t necessarily relieved by rest. For that reason, it can be hard to judge when you need to slow down. Get plenty of sleep at night and naps or breaks during the day as needed.
• Be sun smart. Because ultraviolet light can trigger a flare, wear protective clothing — such as a hat, long-sleeved shirt and long pants — and use sunscreens with a sun protection factor (SPF) of at least 55 every time you go outside.
• Get regular exercise. Exercise can help you recover from a flare, reduce your risk of heart attack, help fight depression and promote general well-being.
• Don’t smoke. Smoking increases your risk of cardiovascular disease and can worsen the effects of lupus on your heart and blood vessels.
• Eat a healthy diet. A healthy diet emphasizes fruits, vegetables and whole grains. Sometimes you may have dietary restrictions, especially if you have high blood pressure, kidney damage or gastrointestinal problems.

Possible complications to Lupus:

• Kidneys. Lupus can cause serious kidney damage, and kidney failure is one of the leading causes of death among people with lupus. Signs and symptoms of kidney problems may include generalized itching, chest pain, nausea, vomiting and leg swelling (edema).
• Brain and central nervous system. If your brain is affected by lupus, you may experience headaches, dizziness, behavior changes, hallucinations, and even strokes or seizures. Many people with lupus experience memory problems and may have difficulty expressing their thoughts.
• Blood and blood vessels. Lupus may lead to blood problems, including anemia and increased risk of bleeding or blood clotting. It can also cause inflammation of the blood vessels (vasculitis).
• Lungs. Having lupus increases your chances of developing an inflammation of the chest cavity lining (pleurisy), which can make breathing painful. You may also be more susceptible to pneumonia.
• Heart. Lupus can cause inflammation of your heart muscle, your arteries or heart membrane (pericarditis). The risk of cardiovascular disease and heart attacks increases greatly.  Other areas of the body that can be effected by lupus causing problems include:  Infection, Cancer, Bone Tissue Death (avascular necrosis), and Pregnancy complications.

“Lupus is an unpredictable and misunderstood autoimmune disease. It is difficult to diagnose, hard to live with, and a challenge to treat. Lupus has a range of symptoms, and strikes without warning.

Lupus is a complicated disease that affects different people in different ways. For some, lupus can be mild — for others, it can be life threatening.

Right now, there’s no cure for lupus. The good news is that with the support of your doctors and loved ones, you can learn to manage it.

Lupus is a chronic (long-term) disease that can cause pain and inflammation in any part of the body.

Around 1.5 million people in the United States are living with lupus.

Lupus can cause a lot of different symptoms that come and go over time.

Living with lupus can be hard, but there’s a lot you can do to manage your symptoms and make your daily life easier.”

Lupus Foundation of America (https://www.lupus.org/understanding-lupus)

 Butterfly Rash

Lupus is an inflammatory disease that is caused when the auto, meaning “self”, immune system attacks its own tissues.

Lupus is a chronic, an autoimmune disease that can damage any part of the body (skin, joints, and/or organs inside the body). Chronic means that the signs and symptoms tend to last longer than six weeks and often for many years.

In lupus, something goes wrong with your immune system, which is the part of the body that fights off viruses, bacteria, and germs (“foreign invaders,” like the flu). Normally our immune system produces proteins called antibodies that protect the body from these invaders. Your autoimmune immune system cannot tell the difference between these foreign invaders and your body’s healthy tissues and creates auto-antibodies that attack and destroy healthy tissue. These auto-antibodies cause inflammation, pain, and damage in various parts of the body.

Lupus is also a disease of remissions (flare ups) whereby the symptoms worsen and you feel ill and remissions (the symptoms improve and you feel better) but the disease remains. So your goal is to keep the disease as best as possible in remissions.

FACTS TO KNOW IF YOU HAVE LUPUS:

• Lupus is not contagious, not even through sexual contact. You cannot “catch” lupus from someone or “give” lupus to someone.
• Lupus is not like or related to cancer. Cancer is a condition of malignant, abnormal tissues that grow rapidly and spread into surrounding tissues. Lupus is an autoimmune disease, as described above. However, some treatments for lupus may include immunosuppressant drugs that are also used in chemotherapy.
• Lupus is not like or related to HIV (Human Immune Deficiency Virus) or AIDS (Acquired Immune Deficiency Syndrome) except that they both affect the immune system (but differently) in having remissions and exacerbations, that’s it. In HIV or AIDS the immune system is underactive; whereas in lupus, the immune system is overactive.
• Lupus can range from mild to life-threatening and should always be treated by a doctor. With good medical care, most people with lupus can lead a full life.
• Another factor in helping you reach remission is being compliant with the taking the meds ordered by your doctor.
• Research estimates that at least 1.5 million Americans have a form of lupus. The actual number may be higher; however, there have been no large-scale studies to show the actual number of people in the U.S. living with lupus.
• More than 16,000 new cases of lupus are reported annually across the country.
• It is believed that 5 million people throughout the world have a form of lupus.
• Lupus strikes mostly women of childbearing age (15-44). However, men, children, and teenagers develop lupus, too. Most people with lupus develop the disease between the ages of 15-44.
• Women of color are two to three times more likely to develop lupus than Caucasians.
• People of all races and ethnic groups can develop lupus.
• Lupus effects 80% women.
• Discoid lupus erythematosus—causes a skin rash that doesn’t go away
• Subacute cutaneous lupus erythematosus—causes skin sores on parts of the body exposed to sun
• Drug-induced lupus—can be caused by medications
• Neonatal lupus—a rare type of lupus that affects newborns.      
• Approximately 1.5 million Americans have a form of lupus.
• Systemic lupus erythematosus cases: 70% of total lupus cases.
• Of individuals diagnosed with lupus, 90% are women.
• Eighty percent of people develop lupus between 15 and 45 years of age.
• Lupus is two to three times more prevalent among people of color.
• Chance of a parent or sibling having or developing lupus: 20%

There are 4 major kinds of lupus. Here are the types:

1-Systemic lupus erythematosus (SLE) is the most common and most serious type of lupus.

2-Cutaneous lupus erythematosus, which affects only the skin.

3-Drug-induced lupus, a short-term type of lupus caused by certain medicines.

4-Neonatal lupus, a rare type of lupus that affects newborn babies.

The most common type and serious type of lupus is systemic lupus erythematosus (SLE)

• Systemic Lupus Erythematosus  or also known as (SLE):
• The cause(s) of SLE are unknown, however, heredity, viruses, ultraviolet light, and drugs all may play some role.

Signs and Symptoms of Lupus:

1. *butterfly rash on the face – very common symptom with a flare up.

Including other possible symptoms:

2. appetite loss 3. hair loss 4. fever 5. fatigue 6. photosensitivity 7. Raynaud’s phenomenon 8. pleuritis and 9. pericarditis.

• Up to 10% of people with lupus isolated to the skin will develop the systemic form of lupus (SLE).
• The criteria listed at the top in the picture help doctors diagnose SLE!

Stayed tune for part II tomorrow on how its diagnosed and the type of treatments!

There have been many advances in CF treatment.

Antibiotics and Anti-inflammatories are used in treat for some with cystic fibrosis.

Antibiotics are frequently needed to treat bacteria that grow in the mucus. These can be given in one of three ways:

• Orally or by mouth – this is the easiest and cheapest route.
• By inhalation – this is more expensive but very effective.
• Intravenously (IV) – this is usually reserved for those who are sicker.

Anti-inflammatory medications have also been found to be helpful in CF. Two medications are currently in use, azithromycin (an antibiotic that’s used as an anti-inflammatory agent in CF), and ibuprofen.

Managing cystic fibrosis is a must!

Regular check-ups with your doctor are needed as patients with CF will require constant monitoring and health management to control symptoms and prevent complications.

Your doctor may request that you receive some other tests depending on your condition. Common tests include blood tests, bone mineral density tests, glucose monitoring, pancreas functionality test, and respiratory cultures. Ultrasounds, chest CTs or X-rays, colonoscopy and a lung biopsy may be needed in some situations.

In addition to doctor visits, lifestyle changes can help manage symptoms. Practicing good hygiene and receiving all recommended vaccines can prevent patients with CF from getting an infection which in turn could lead to more severe complications. To maintain a healthy weight many patients with CF follow healthy, high-calorie, high-sodium diets. Physical activity is also encouraged to help improve and maintain lung function.

Most importantly all patients with CF need to continue treatments, including medicines, supplements, and daily airway clearance techniques as directed by their physicians. Your physician should also be alerted immediately to any complications so that they can provide supplemental medication to help the immune system fight off infection as quickly as possible.”

American Heart Association (https://www.lung.org/lung-health-diseases/lung-disease-lookup/cystic-fibrosis/treating-and-managing)

Cystic Fibrosis has advanced with medical treatments and advocacy by patient groups such as the Cystic Fibrosis Foundation (CFF).

“On average, people with CF live into their mid to late 30s. But new treatments are increasing life expectancy.

CF affects several organ systems, including: Respiratory system, Digestive system and the Reproductive system.

Some people carry the CF gene without being affected by the disease. They often don’t know that they are carriers.Cystic fibrosis is inherited. A person with CF had both parents pass the changed gene to them. The birth of a child with CF is often a total surprise to a family. Most of the time there is no family history of CF. Caucasian people are more likely to have CF than people of African, Asian, or Hispanic ancestry.

There is currently no cure for CF. Scientists are investigating gene therapy. Some patients with advanced disease may be considered for surgeries like lung and pancreas transplant.

Goals of treatment are to ease symptoms, prevent and treat complications, and slow the progress of the disease.Treatment generally focuses on the following 2 areas.  Managing lung and digestive problems”.

MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/cystic-fibrosis/symptoms-causes/syc-20353700)