Bell’s palsy is a condition in which the muscles on one side of your face become weak or paralyzed. It affects only one side of the face at a time, causing it to droop or become stiff on that side.

It’s caused by some kind of trauma to the seventh cranial nerve. This is also called the “facial nerve.” Bell’s palsy can happen to anyone. But it seems to occur more often in people who have diabetes or are recovering from viral infections.

Most of the time, symptoms are only temporary.

If it happens to you, you may fear you’re having a stroke. You’re probably not. A stroke that affects your facial muscles would cause muscle weakness in other parts of your body, too.

What Causes It?

Most doctors believe that it’s due to damage to the facial nerve, which causes swelling. This nerve passes through a narrow, bony area within the skull. When the nerve swells — even a little bit — it pushes against the skull’s hard surface. This affects how well the nerve works.

Researchers have long believed that viral infections may also play a role in the development of Bell’s palsy. They’ve found evidence that suggests the herpes simplex 1 virus (a common cause of cold sores) may be responsible for a large number of cases.

Symptoms:

The symptoms of Bell’s palsy tend to come on all of a sudden. You may go to bed one night feeling fine. But when you look in the mirror the next morning, you see that part of your face seems to be drooping.

Some people feel pain behind their ear 1-2 days before they notice any weakness. Others say that sounds seem much louder than normal in the days before they see any other symptoms.

• You’re unable to close your eyelid or blink
• Your eye waters more or less than usual
• Drooling
• Difficulty chewing
• Decreased sense of taste
• Your facial muscles twitch
• Pain or numbness behind your ear

Facial weakness and drooping typically reach their peak within a day or two. Most people start to feel better within a couple of weeks. They usually recover completely within 3 months. Some people who develop Bell’s palsy have a longer recovery period. In rare cases, they may have some permanent symptoms.

What Are the Treatments for Bell’s Palsy?

There aren’t any that can stop it. If your doctor suggests your symptoms might be triggered by the herpes virus (herpes simplex 1) or by shingles(herpes zoster), he may give you an antiviral medication, like acyclovir. But there’s no research to show these medications work to reduce Bell’s palsy symptoms.

Your doctor may also give you a short course of corticosteroids (like prednisone). The goal is to decrease swelling of your facial nerve. This may shorten the duration of your Bell’s palsy symptoms.

In the meantime, your doctor will tell you to take extra care to protect your eye on the affected side. He may suggest you wear an eye patch, since you won’t be able to blink. If your eyes are tearing less than normal, you may have to use eye drops to keep them from drying out.

Finally, your doctor may suggest massage of your facial muscles. In very rare cases — where symptoms don’t improve after some time — he may suggest surgery to reduce pressure on your facial nerve.

WHAT IS A PERILYMPH FISTULA?

A perilymph fistula (PLF) is an abnormal connection (a tear or defect) in one or both of the small, thin membranes (the oval window and the round window) that separate the air filled middle ear and the fluid filled perilymphatic space of the inner ear. This small opening allows perilymph (fluid) to leak into the middle ear.

Changes in air pressure that occur in the middle ear (for example, when your ears “pop” in an airplane) normally do not affect your inner ear. However, when a fistula is present, changes in middle ear pressure will directly affect the inner ear, stimulating the balance and/or hearing structures within and causing PLF symptoms.

The perilymphatic space of the inner ear is connected to the cerebrospinal fluid (CSF) that surrounds the brain. Perilymphatic fluid, which is high in sodium (Na+), is similar in composition to CSF. When an abnormal connection between the membranes between the middle and inner ear exists, perilymph in the inner ear escapes, driven by the hydrostatic pressure of the CSF, and is replaced by CSF. This can also result in lower than normal levels of CSF fluid around the brain and spinal cord, which may result in symptoms such as mild headache.

Patients with PLF often feel frustrated and depressed because, while they don’t feel well, they look fine to others. PLF patients specifically and vestibular patients in general often have a challenging time explaining to friends and family what they are going through. Sometimes it is enough to ask your support network for patience and understanding while you explore diagnosis and treatment options and learn to cope with the symptoms brought on by persistent dizziness.

SYMPTOMS :

The symptoms of a PLF most commonly include ear fullness, fluctuating or “sensitive” hearing, dizziness without true vertigo (spinning), and motion intolerance. Vertigo or sudden hearing loss can occur from a PLF. Most people with fistulas find that their symptoms get worse with changes in altitude (fast elevators, airplanes, and travel over moun¬tain passes) or increased CSF pressure resulting from heavy lifting, bending over, and coughing or sneezing.

CAUSES :

Head trauma is the most common cause of fistulas, usually involving a direct blow to the head or in some cases a “whiplash” injury. Other common causes include ear trauma, objects perforating the eardrum, or “ear block” on descent of an airplane or SCUBA diving. Fistulas may also develop after rapid increases in intracranial pressure, such as

may occur with weightlifting or childbirth.

Fistulas are infrequently present from birth. A long-running controversy has surrounded the idea of a “spontaneous PLF.” Instead, what may occur is that a patient has a causative event but does not see an ear specialist right away. The passage of time blurs the memory of such an event so that the PLF might seem to have been spontaneous. Rarely, PLF’s occur in both ears, and only after a severe head injury.

TREATMENT:

When a traumatic event results in sudden onset of hearing loss or dizziness, the patient is advised to severely restrict physical activity for 7-14 days. If the symptoms do not improve or they plateau, testing is ordered. If the tests are compatible with the diagnosis of PLF, a surgical intervention may be considered. Persons with diagnosed fistulas who are awaiting surgery should avoid lifting, straining and bending over as these activities can cause a worsening of the symptoms.

A PLF repair involves an operation, often under general anesthesia, working through the ear canal. The eardrum is lifted up and minute soft tissue grafts are placed around the base of the stapes (stirrup) and in the round window niche. The operation usually takes about 45-60 minutes to complete. There is very little, if any, pain. Some patients are kept overnight to restrict activity. Once discharged the patient is advised to spend three days at home with limited activity. After three days the patient may return to sedentary work activities. The patient is advised to avoid lifting more than 10 lbs. for one month and avoid sporting activities. After one month there are additional restrictions suggested on activities such as contact sports, diving, weight lifting, and roller coasters. All of these activities have resulted in recurrent PLF’s after an initial successful repair.

Hearing loss can be caused by many different causes, some of which can be successfully treated with medicine or surgery, depending on the disease process.

Three Types of Hearing Loss

• Conductive hearing loss - when hearing loss is due to problems with the ear canal, ear drum, or middle ear and its little bones (the malleus, incus, and stapes).
• Sensorineural hearing loss (SNHL) - when hearing loss is due to problems of the inner ear, also known as nerve-related hearing loss.
• Mixed hearing loss – refers to a combination of conductive and sensorineural hearing loss. This means that there may be damage in the outer or middle ear and in the inner ear (cochlea) or auditory nerve.

Conductive Hearing Loss

Causes:

• Malformation of outer ear, ear canal, or middle ear structures
• Fluid in the middle ear from colds
• Ear infection (otitis media – an infection of the middle ear in which an accumulation of fluid may interfere with the movement of the eardrum and ossicles
• Allergies
• Poor Eustachian tube function
• Perforated eardrum
• Benign tumors
• Impacted earwax
• Infection in the ear canal
• Foreign body in the ear
• Otosclerosis

Treatments of Conductive Hearing Loss:

Types of conductive hearing loss include congenital absence of ear canal or failure of the ear canal to be open at birth, congenital absence, malformation, or dysfunction of the middle ear structures, all of which may possibly be surgically corrected. If these are not amenable to successful surgical correction, then the hearing alternatively may be improved with amplification with a bone conduction hearing aid, or a surgically implanted, osseointegrated device (for example, the Baha or Ponto System), or a conventional hearing aid, depending on the status of the hearing nerve.

Other causes of conductive hearing loss are: infection; tumors; middle ear fluid from infection or Eustachian tube dysfunction; foreign body; and trauma (as in a skull fracture). Acute infections are usually treated with antibiotic or antifungal medications. Chronic ear infections, chronic middle fluid, and tumors usually require surgery. If there is no response to initial medical therapy, infectious middle ear fluid is usually treated with antibiotics — while chronic non-infectious middle ear fluid is treated with surgery (or pressure equalizing tubes).

Conductive hearing loss from head trauma is frequently amenable to surgical repair of the damaged middle ear structures, performed after the patient’s general medical status is stabilized following acute traumatic injuries.

A genetic form of conductive hearing loss is otosclerosis, in which there is bony fixation of the stapes (the third little bone of hearing in the middle ear), where sound can’t get to the middle ear. Otosclerosis usually presents with hearing loss in early adulthood. Otosclerosis can successfully be managed with surgery to replace the immobile stapes with a mobile stapes prosthesis or with a hearing aid. Research suggests that the measles virus may contribute to stapes fixation in those with a genetic predisposition to otosclerosis. The incidence of otosclerosis may be decreasing in some communities due to measles vaccination. Otosclerosis (a hereditary disorder in which a bony growth forms around a small bone in the middle ear, preventing it from vibrating when stimulated by sound) usually causes a conductive hearing loss, a hearing loss caused by a problem in the outer or middle ear. Less frequently, otosclerosis may cause a sensorineural hearing loss (damaged sensory cells and/or nerve fibers of the inner ear), as well as a conductive hearing loss.

Sensorineural Hearing Loss

Causes:

• Exposure to loud noise
• Head trauma
• Virus or disease
• Autoimmune inner ear disease
• Hearing loss that runs in the family
• Aging (presbycusis)
• Malformation of the inner ear
• Meniere’s Disease
• Otosclerosis – a hereditary disorder in which a bony growth forms around a small bone in the middle ear, preventing it from vibrating when stimulated by sound.
• Tumors

Treatment of Sensorineural Hearing Loss:

• Sensorineural hearing loss can result from acoustic trauma (or exposure to excessively loud noise), which may respond to medical therapy with corticosteroids to reduce cochlea hair cell swelling and inflammation to improve healing of these injured inner ear structures.
• Sensorineural hearing loss can occur from head trauma or abrupt changes in air pressure such as in airplane descent, which can cause inner ear fluid compartment rupture or leakage, which can be toxic to the inner ear. There has been variable success with emergency surgery when this happens.
• Sudden sensorineural hearing loss, presumed to be of viral origin, is an otologic emergency that is medically treated with corticosteroids.
• Bilateral progressive hearing loss over several months, also diagnosed as autoimmune inner ear disease, is managed medically with long-term corticosteroids and sometimes with drug therapy. Autoimmune inner ear disease is when the body’s immune system misdirects its defenses against the inner ear structures to cause damage in this part of the body.
• Fluctuating sensorineural hearing loss may be from unknown cause or associated with Meniere’s Disease. Symptoms of Meniere’s disease are hearing loss, tinnitus (or ringing in the ears), and vertigo. Meniere’s disease may be treated medically with a low-sodium diet, diuretics, and corticosteroids. If the vertigo is not medically controlled, then various surgical procedures are used to eliminate the vertigo.
• Sensorineural hearing loss from tumors of the balance nerve adjacent to the hearing nerve, generally are not reversed with surgical removal or irradiation of these benign tumors. If the hearing loss is mild and the tumors are very small, hearing may be saved in 50 percent of those undergoing hearing preservation surgery for tumor removal.
• Sensorineural hearing loss from disease in the central nervous system may respond to medical management for the specific disease affecting the nervous system. For example, hearing loss secondary to multiple sclerosis may be reversed with treatment for multiple sclerosis.
• Irreversible sensorineural hearing loss, the most common form of hearing loss, may be managed with hearing aids. When hearing aids are not enough, this type of hearing loss can be surgically treated with cochlear implants.

Mixed Hearing Loss

Treatments for Mixed Hearing Loss

Audiologist Mark Ross, Ph.D., recommends taking care of the conductive component first. There have been times when the addition of the conductive component made the person a better hearing aid candidate, by flattening out the audiogram for example, while the underlying sensorineural component presented a high-frequency loss. However, still the emphasis would be on treating medically what can be treated. He says that, generally, you would expect positive results.

The term cauliflower ear refers to a deformity of the ear caused by blunt trauma or other injury, such as what may occur during a boxing or wrestling match. Left untreated, the injury leads to a blockage that prevents blood flow and damages tissue. This results in a bumpy or lumpy appearance on part of the ear,similar to a cauliflower. Early treatment can help prevent permanent deformity.

 

Fortunately, the types of injuries that cause cauliflower ear are often preventable by wearing the right type of protective head gear.

 

Causes of Cauliflower Ear

The most common cause of cauliflower ear is a hit to the ear — or repeated hits to the ear — that leads to hematomas, or small collections of bloodthat clot and block the flow of blood and nutrients. These can also occur when skin is pulled away from cartilage, the semi-rigid tissue that gives the ear its shape.

Usually, cauliflower ear is related to sports injuries, but not always. Any trauma to the ear can cause it. Cauliflower ear can even be the result of an infection in the ear lobe.

When blood flow is blocked, the affected cartilage may die and, without the supportive tissue, fold in on itself. Scar tissue may form, contributing to a swollen and deformed look. Over time, the effects may become more prominent, and they may be permanent. The good news is that cauliflower ear can usually be prevented, even after such an injury occurs.

Risk Factors for Cauliflower Ear

Cauliflower ear occurs most frequently in people who participate in close-contact sports, such as wrestling or boxing. In wrestling, for instance, trauma can result from opponents’ heads rubbing or hitting one another during matches or from contact with the wrestling mat. Cauliflower ear is also common among rugby players and people who practice martial arts. People who participate in these activities are at higher risk than others. Protective head gear has long been commonplace in these sports.

But these injuries can also occur in non-athletes. They may be the result of accidents or physical altercations. They also can be a complication of “high” piercings in the upper area of the ear, through the cartilage, if the piercing becomes infected.

Symptoms of Cauliflower Ear

The initial symptoms of the types of injuries that lead to cauliflower ear are similar to the symptoms one might experience from blunt trauma elsewhere in the body. You may have swelling, and the area may be red or bruised. So it’s important not to shrug off such symptoms if you have received a blow, or multiple blows, to the ear. Prompt treatment can prevent the development of cauliflower ear. But it must be performed before the tissue is compromised by lack of blood flow.

Treatment of Cauliflower Ear

If you experience an injury that causes a blockage in the tissues of your ear, there’s still a chance you can avoid developing cauliflower ear. The goal of treatment is to ease the blockage so that blood can again flow to the affected tissues.

A doctor can accomplish this by making a small incision and draining accumulating blood or removing a clot and preventing further bleeding. He or she may need to reconnect tissues using stitches and apply a special bandage to put pressure on the area. This pressure dressing may need to stay in place for several days to a week. The site will require monitoring for signs of infection or signs that additional treatment may be needed. Your doctor may also prescribe antibiotics.

 

Retinal detachment occurs when the retina becomes separated from the nerve tissues and blood supply underneath it. While painless, visually this has a clouding effect that has been likened to a gray curtain moving across the field of vision.

Retinal detachment is a treatable condition, but it must be taken care of promptly, or it can cause vision loss and in the worst cases, blindness.

What Causes Retinal Detachment?

Retinal detachment usually happens due to an exceptionally thin or damaged retina allowing eye fluid to enter it. As fluid gets in, it pushes the retina away from the supportive tissue underneath it, causing separation, and eventually, detachment.

The detached portion of the retina is no longer able to properly transmit light signals to the brain.  Vision can also be disrupted by retinal blood vessels that leak fluid into the inner portion of the eye where vitreous, or gel-like like fluid would normally be. If the retinal detachment progresses into the macula, or central part of the retina, the impact on vision can become more severe.

Symptoms of Retinal Detachment

An eye care professional can determine retinal detachment through a number of retinal and pupil response tests, ranging from simple visual acuity testing to an ultrasound of the eye.

For the patient, the gray curtain mentioned above occurs after retinal detachment has already begun. Before this happens, there are signs and symptoms that can alert one to the possible onset of retinal detachment, including:

• Eye floaters accompanied by eye flashes
• Sudden onset of blurred vision
• Shadows or blind spots in the field of vision

Treatment for Retinal Detachment

Surgery has proven a highly successful treatment for retinal detachment, provided the condition has been detected early enough. To ensure that treatment can be effective, anyone experiencing the symptoms above should be given medical attention within 24 hours.

Typical surgical procedures include:

• Laser surgery: Repairs tears in the retina that are the underlying cause of separation
• Cryopexy: Applies intense cold to the underlying tissue, causing a scar to develop that holds the retina in place
• Pneumatic retinoplexy: a tiny gas bubble is placed in the eye that floats the retina back into place; usually accompanied by laser surgery to ensure the retina stays in correct position permanently.
• Scleral buckle: suturing a silicone “buckle” to the eye that indents the wall of the eye into a position that allows the retina to reattach.

• Pernicious anemia is defined as a type of vitamin B12 deficiency that results from impaired uptake of vitamin B-12 due to the lack of a substance known as intrinsic factor (IF) produced by the stomach lining.
• Pernicious anemia is a condition caused by too little vitamin B12 in the body. It is one form of vitamin B12 deficiency anemia.
• Vitamin B12 helps the body make healthy red blood cells and helps keep nerve cells healthy. It is found in animal foods, including meat, fish, eggs, milk, and other dairy products.
• The most common cause of pernicious anemia is the loss of stomach cells that make intrinsic factor. Intrinsic factor helps the body absorb vitamin B12 in the intestine. The loss of parietal cells may be due to destruction by the body’s own immune system.
• Pernicious anemia can cause permanent damage to nerves and other organs if it goes on for a long time without being treated. It also raises the risk for developing stomach cancer.
• Common signs and symptoms of vitamin B12 deficiency, seen in pernicious anemia are:
  • Feeling tired and weak
  • Tingling and numbness in hands and feet
  • A bright red, smooth tongue
• Pernicious anemia is diagnosed using family history and medical history, a physical exam, and diagnostic tests and procedures.
• Pernicious anemia is easy to treat with vitamin B12 pills or shots as well as dietchanges. Life-long treatment is needed.
• Complications caused by untreated pernicious anemia may be reversible with treatment.
• Doctors don’t know how to prevent pernicious anemia that is caused by the immune system destroying stomach cells.
• Eating foods high in vitamin B12 and folic acid can help prevent vitamin B12 deficiency caused by a poor diet.

Pernicious anemia is considered to be an autoimmune disease, in which the body’s own immune system mistakenly damages its own tissues. It is believed that the decreased absorption of vitamin B-12 from the gastrointestinal tract in pernicious anemia results from the presence of an autoantibody against intrinsic factor (IF), a protein made in the stomach that is necessary for the absorption of vitamin B-12. Normally, vitamin B-12 binds to intrinsic factor in the stomach, and this facilitates its absorption by the small intestine further along in the digestive process. Along with the autoimmune process that attacks the IF protein and lowers IF levels in stomach secretions, another autoimmune reaction against the stomach lining cells also occurs, resulting in a form of inflammation known as chronic atrophic gastritis.

Pernicious anemia is sometimes associated with other autoimmune diseases such as Graves’ disease, Hashimoto’s thyroiditis and vitiligo (depigmentation or blanching of skin areas)

As discussed previously, true pernicious anemia results from an autoimmune condition that impairs absorption of dietary vitamin B-12, resulting in vitamin B-12 deficiency. Vitamin B-12 deficiency of any cause, including pernicious anemia, will result in anemia and neurologic symptoms. Because the body has large stores of vitamin B-12, a deficiency takes many years to establish.

Vitamin B-12 deficiency affects the nervous system, leading to a variety of symptoms. Sometimes, these may be apparent before symptoms related to the anemia. Neurological symptoms vary and may be nonspecific (meaning that these are symptoms that can be caused by a number of different conditions). Feelings of numbness, tingling, weakness, lack of coordination, clumsiness, impaired memory, and personality changes can all occur. Both sides of the body are usually affected, and the legs are typically more affected than the arms. A severe deficiency can result in more serious neurological symptoms, including severe weakness, spasticity, paraplegia, and fecal and urinary incontinence.

Symptoms of anemia are due to the reduced oxygen-carrying capacity of the blood. Shortness of breath, fatigue, dizziness, and pale skin can all occur with anemia. In anemia, the heart is placed under stress since it has to work harder to deliver enough oxygen to body tissues. This can result in heart murmurs, fast heartbeats, arrhythmias, an enlarged heart (cardiomegaly), or even heart failure. It is important to note that not all people who have vitamin B-12 deficiency and neurological symptoms also will have anemia.

A deficiency of vitamin B-12 also can alter the surface of the tongue, making it appear shiny or smooth.

Finally, sometimes pernicious anemia is diagnosed in a patient with no symptoms. In these cases, it is usually found incidentally when blood tests are ordered for another reason.

 

•  

 

The symptoms of pernicious anemia and vitamin B-12 deficiency can be treated by replenishing the vitamin B-12 supply in the body. If a condition other than pernicious anemia is responsible for vitamin B-12 deficiency, treatment also must be directed at the underlying condition. Symptoms of vitamin B-12 deficiency may be improved after just a few days of medical treatment.

Vitamin B-12 is typically given as an intramuscular injection (shot). An injection of 1000 micrograms (1 mg) of vitamin B-12 is generally given every day for one week, followed by 1 mg every week for four weeks and then 1 mg every month thereafter.

Alternative treatments for pernicious anemia include high-dose oral vitamin B-12, since a lower-efficiency absorption system for vitamin B-12 exists in the intestine that does not require the presence of IF. However, the oral dose required for this type of therapy (1 to 2 milligrams/day) is more than 200 times higher than the minimum daily vitamin B-12 requirement for adults and is significantly higher than that available in most standard multivitamins and B-12 supplements. Nasal spray and sublingual (under the tongue) preparations of vitamin B-12 also are available and are under investigation.

Myelofibrosis (MF) is a rare kind of blood cancer that starts in your marrow, a spongy tissue inside your bones that makes blood cells. The disease causes scars called fibrosis, which affects how many blood cells your body can make.

MF is long-lasting and usually gets worse slowly. You may be able to live with it for years without a problem. But some people’s myelofibrosis grows more quickly and causes symptoms that need to be treated.

What Causes It?

A problem with one of your genes causes you to make stem cells that don’t work the way they should. These are the cells that make blood in your bone marrow. With MF they get inflamed, and scar tissue forms.

About 90% of people who get this kind of cancer have a change in one of three genes: JAK2, CALR, or MPL. These genes change during your lifetime, but we don’t know why. Maybe you were exposed to toxic chemicals or radiation. In most cases, you don’t inherit these gene problems from your parents, and you don’t pass them on to your children.

These faulty genes make copies of themselves. The bad versions spread through your marrow and try to stop your body from making normal blood cells.

We don’t know how to prevent MF. But there’s research under way to find out more about it.

Who Gets MF?

Most people are diagnosed around age 60. Both men and women can get it. Young adults or small children can get myelofibrosis, but it’s rare. Girls are affected twice as often as boys when it happens in childhood.You may get MF by itself. Or it could happen if you have another type of cancer that spreads to your marrow. Blood cancers like leukemia or myeloma could also bring it on.

Long-term exposure to radiation or toxic chemicals like benzene could make you more likely to get MF. But that doesn’t happen often.

How Does MF Affect You?

Blood cells: You have three types. They travel from your marrow to the rest of your body. Each has a special job to do. But if MF slows production, that can’t happen.

Red blood cells bring oxygen to your organs and tissues like muscles. If you have too few (your doctor will call this anemia), you might feel weak, short of breath, lightheaded, or really tired. You might have bone pain.

White blood cells help you fight off infections. If you have too many, your body can’t defend you from illness like it’s supposed to.

Platelets make your blood clot when you get a cut so you can form a scab and heal. Without enough working platelets, it may be hard for you to stop bleeding.

Organs: Because your marrow has problems making blood cells, organs like your spleen, liver, or lungs may start the process instead. You could also make blood cells in your spinal cord or lymph nodes — small glands in your groin, neck, and armpits.

All that extra blood can cause organs to get too large, especially your spleen. You might feel pain or fullness in your belly if that happens. This can be serious, so you need to get it looked at right away.

See your doctor regularly to check your blood for any problems. About 20% of people with MF could get acute myeloid leukemia, a kind of cancer that’s harder to treat.

What is coagulopathy?

Coagulopathy is a condition in which the blood’s ability to clot is impaired. This condition can cause prolonged or excessive bleeding, which may occur spontaneously or following an injury or medical and dental procedures. Coagulopathy can be a primary medical condition or a complication of some other disorder.

The normal clotting process depends on the interplay of various proteins in the blood. Coagulopathy may be caused by reduced levels or absence of blood-clotting proteins, known as clotting factors or coagulation factors. Genetic disorders, such as hemophilia and von Willebrand’s disease, can cause a reduction in clotting factors. Coagulopathy may also occur as a result of dysfunction or reduced levels of platelets (small disk-shaped bodies in the bloodstream that aid in the clotting process). The goal of the clinical evaluation for coagulopathy is to identify the root cause for the bleeding problem.

If you have coagulopathy, your health care provider may help you manage your symptoms with medications or replacement therapy. In replacement therapy, the reduced or absent clotting factors are replaced with proteins derived from human blood or created in the laboratory. This therapy may be given either to treat bleeding that has already begun or to prevent bleeding from occurring.

Coagulopathy may cause uncontrolled internal or external bleeding. Left untreated, uncontrolled bleeding may cause damage to joints, muscles, or internal organs and may be life threatening.

Signs, symptoms, and diagnosis

Signs and symptoms are often mild. Nowadays, people with hemochromatosis are less likely to develop symptoms, as diagnosis tends to happen earlier than it did in the past.

If the condition advances, the main symptoms include:

• Abdominal pain
• Females may stop menstruating
• High blood sugar levels
• Hypothyroidism, or low thyroid function
• Loss of libido, or sex drive, and male impotence
• Reduction in size of testicles
• Skin becomes bronzed, like a suntan
• Tiredness or fatigue
• Weakness
• Weight loss

In time, the following conditions may develop:

• Arthritis
• Cirrhosis of the liver
• Diabetes
• Enlargement of the liver
• Heart disease
• Pancreatitis

Around 75 percent of patients who have started to show symptoms will have abnormal liver function, 75 percent will experience tiredness and lethargy, and 44 percent will have pain in the joints. A bronze skin color will be visible in 70 percent of patients with symptoms.

Risk factors and causes

There are some known risk factors for hemochromatosis.

Genetic factors: Having two copies of a mutated “high iron” or, HFE gene, is the greatest risk factor for hereditary hemochromatosis. The person inherits one copy of the mutated HFE gene from each parent. H refers to high, and FE means iron.

Family history: A person with a parent, child, brother, or sister with hemochromatosis is more likely to have it.

Ethnicity: People of British, Scandinavian, Dutch, German, Irish, and French ancestry have a higher risk of having the HFE gene mutation and of developing hemochromatosis.

Gender: Men are significantly more likely to develop hemochromatosis than women, and they tend to experience signs and symptoms between the ages of 40 and 60 years, while women are more likely to develop it after menopause.

This is because women lose iron during menstruation and pregnancy. A woman’s risk increases after the menopause or a hysterectomy. Among every 28 people with hemochromatosis, 18 are male and 10 are female.

Some researchers have suggested that genetic hemochromatosis may be linked to autoimmune thyroiditis, either playing a role in the development of thyroiditis, or overlapping with it.

Causes

Most people absorb around 10 percent of the iron they consume. When there are sufficient stores of iron, the body reduces iron absorption through the intestine to prevent levels from rising too far.

People with hereditary hemochromatosis may absorb up to 30 percent of the iron they consume. At this rate, the body cannot expel the extra iron fast enough, so it builds up. The body stores the excess in the tissues of major organs, mainly in the liver, and also the heart and the pancreas.

People with hemochromatosis may eventually build up between 5 and 20 times the amount of iron they should have. Over time this excess iron can destroy organs, resulting in organ failure and chronic diseases, such as cirrhosis, heart disease, and diabetes.

Primary hemochromatosis: A genetic mutation

Every living organism has genes. Genes are a set of instructions that decide what the organism is like, how it survives, and how it behaves in its environment. A mutation in one gene can change the way the body works.

HFE is the gene that controls the amount of iron we absorb. The two common mutations in the HFE gene are C282Y and H63D. In the U.S., most people with inherited hemochromatosis have inherited two copies of C282Y, one from the mother and the other from the father. Around 31 percent of people with two copies of C282Y develop symptoms by their early fifties.

A person who inherits just one gene with the C282Y mutation is not certain to develop iron overload syndrome, although they will probably absorb more iron than normal, and they will be a carrier.

If both parents are carriers, there is a 1 in 4 chance of inheriting two mutated genes, one from each parent. However, some people with two copies of the C2H2Y mutation never experience symptoms.

Some individuals may inherit one C282Y and one H63D mutation. A small proportion of these people will develop hemochromatosis symptoms.

Inheriting two copies of H63D is rare. Having two copies of the H63D mutation may increase the risk of developing hemochromatosis, but this is not confirmed.

Men with HFE defects can develop symptoms from the age of 40, but in women, symptoms normally appear after the menopause.

Treatment and complications

Venesection, or phlebotomy, is a regular treatment to remove iron-rich blood from the body. It is like donating blood, but the aim is to reduce iron levels to normal.

How much blood is taken and how often depends on the patient’s age, overall health, and the severity of the iron overload. Normally, this happens weekly until levels return to normal.

When iron levels build up again, the patient will need to repeat the treatment.

Phlebotomy cannot reverse the symptoms of cirrhosis, but it can improve symptoms such as nausea, abdominal pain, and fatigue. It may improve heart function and joint pain.

The amount of blood that can be taken depends on whether the patient is male or female, and their overall health condition. One unit a week is normally taken. One unit is one pint or around 473 milliliters.

Medications can include a drug that binds the excess iron before being excreted from the body.

The patient should have regular blood tests, and treatment normally continues for life.

Life expectancy is normal if hemochromatosis is diagnosed and treated early, before too much additional iron accumulates.

Complications

If hemochromatosis is left untreated, the accumulation of iron can lead to complications.

These include:

• Cirrhosis, or permanent scarring of the liver, which can lead to serious and life-threatening complications
• A higher chance of liver cancer in individuals with both cirrhosis and hemochromatosis
• Diabetes and associated complications, such as kidney failure, blindness, and heart problems
• Congestive heart failure, if too much iron builds up in the heart and the body cannot circulate enough blood to meet its needs
• Irregular heart rhythms, or arrhythmias, leading to chest pain, palpitations and dizziness.
• Endocrine problems, such as hypothyroidism and hypogonadism
• Arthritis, osteoarthritis, and osteoporosis
• Bronze or gray skin color due to the deposits of iron in skin cells

Other complications can include depression, gall bladder disease, and some cancers. Autopsies have indicated that some people with neurodegenerative diseases, such as Alzheimer’s, have had high iron levels.

To reduce iron absorption, people with the condition have been encouraged to avoid red meat and other foods rich in iron, but reducing the intake of dietary iron has not been shown to lower iron levels. However, patients are advised not to take iron tablets or use vitamin C supplements, as vitamin C enhances iron absorption.

A high sugar consumption may also increase absorption of iron. Calcium-rich foods and eggs and tea may inhibit iron absorption.

People with the condition should limit the alcohol they drink, because it will increase the risk of liver damage.