A Family Doctor's Tale - THALASSEMIA

DOC I HAVE THALASSEMIA

Thalassaemia is an inherited condition caused by defects in the genes that produce the hemoglobin (the red pigment which carry the oxygen  to the body) of red blood cells of patients from childhood.

Thalassemia can cause the breakup of the red blood cells resulting in severe anemia.

Thalassaemia is more common in people from Asia, African and the Mediterranean region.

There are 2 types of Thalassemia:

1.Thalassemia Major is a major illness which is inherited from both parents with the affected thalassemia gene.

The hemoglobin is low and the red blood cells are small and fragile breaking up easily to give rise to severe anemia.

2.Thalassemia Minor is a minor illness which is inherited if only one parent has the affected thalassemia gene.

There is usually mild anemia.

The red blood cells are smaller than normal.

Symptoms of thalassaemia are:

1.Pallor

2.Fatigue

3.Weakness

4.Breathing difficulty

5.Slow growth

6.Jaundice

7.Dark colored urine

8.Bone deformities

Factors that increase the risk of thalassemia are:

1.Family history of thalassemia

2. History of familial Anemia

Diagnosis of Thalassemia is through:

1.Medical history of  thalassemia or anemia

2.Blood tests show a low level of red blood cells.

3.Blood tests can also check on the type of  abnormal hemoglobin present

4.Blood test using DNA analysis can diagnose thalassemia through the presence of defective genes.

Possible complications of thalassemia are:

1.Infection - there is a risk of infection because of the low red blood cells and the breakup of the red blood cells affecting the liver

2.Bone deformities are caused by the expansion of  the bone marrow especially in the face and skull.

The bones are thin and brittle and therefore prone to fractures.

3.Slowed growth rates are present in more severe thalassemia due to the bone deformities

4.Enlarged spleen can occur due to destruction and breakup of a large number of red blood cells

5.Heart problems especially congestive heart failure and abnormal heart rhythms (arrhythmias) may occur  with severe thalassaemia due to low oxygen.

6.Iron overload can occur from frequent blood transfusions especially in the severe thalassemia.

Treatment for Thalassemia is:
For thalassemia minor, no treatment is usually required because there is rarely symptoms

For thalassemia major the patient often require frequent blood transfusions often once a month.

Blood transfusions can lead to high levels of iron in the body which must be removed  through iron chelation therapy(desferrioxamine).

In some cases a bone marrow transplant or a stem cell transplant may help.

Prevention of Thalassemia:

Thalassaemia cannot be prevented because it is a genetic disease.

However if  a family history of thalassaemia is present, genetic counselling before considering a pregnancy is advised.

Prognosis of Thalassemia:

For thalassemia minor, prognosis is very good.

A healthy lifestyle and good diet is important to prevent anemia.

For Thalassemia major, treatment with frequent blood transfusion without excessive iron overload may be able to keep a patient alive up to middle age.

A Family Doctor's Tale - HENOCH-SCHONLEIN PURPURA

DOC I HAVE HENOCH-SCHONLEIN PURPURA

Henoch-Schonlein Purpura is a bleeding disease where small blood vessels become fragile and allow blood to leak from them.

Bleeding into the skin give rise to a typical rash called purpura like a bruise while bleeding into the joints, kidneys or digestive tract can cause damage to these organs.

People of all ages are affected .

It is more common in children between the age of 2 to 10 years.

The cause is unknown but believed to be an allergic reaction to something or a bacterial infection (suspected streptococcus)

Symptoms of Henoch-Schonlein Purpura are:
1.rash is pink, red or purplish blood filled spots that do not fade
when pressed

2.the rash appears first on the buttocks and the back of arms and body especially around the ankles and elbows then spread to the front of the limbs.

3.joint pain and swelling

4.abdominal pain in many cases with vomiting and diarrhea

5.blood in the stools or urine

Diagnosis of Henoch-Schonlein Purpura is by:
1.The typical rash and its location can suggest the diagnosis of Henoch-Schonlein Purpura

2.Blood and urine tests may be done to rule out other causes and to exclude any kidney inflammation.

Blood and protein in the urine may suggest kidney involvement.

3.Abdominal X-ray may be needed if there is abdominal pain and vomiting

4.Ultrasound of kidney may also be needed for exclusion of serious kidney involvement.

Complications of Henoch-Schonlein Purpura are:
1.inflammation of the kidneys

2.joint arthritis due to bleeding in the joint

Treatment of Henoch-Schonlein Purpura:
No treatment may be needed if the condition or symptoms are mild.

For moderate or severe cases:
1. Bed rest is important

2. paracetamol for pain or fever

3. corticosteroids are needed as treatment for allergy

4. antibiotics are given if there is a bacterial infection.

Prognosis of Henoch-Schonlein Purpura is:
The illness may last a few days to a month during which the symptoms may recur.

Most patients make a full recovery and there is no long term ill effects.

In most cases inflammation of the kidneys disappears in a few days but in some patient recovery from the kidney inflammation may take up to 2 years.

A Family Doctor's Tale - MOLLUSCUM CONTAGIOSUM

DOC I HAVE MOLLUSCUM CONTAGIOSUM

Molluscum Contagiosum is a mild viral infection which appears as small shiny pimple-like rash on the body.

The virus is of the pox family and can be very infectious.


It is more common in children between 2 to 5 years of age.

It is easily spread either by direct contact or indirectly through infected clothing or towels or in a swimming pool.

The virus can also be spread through sexual contact.


The causative agent is a virus called molluscum contagiosum which is highly infectious.

Secondary infection may occurs from invasion of staphalococcus.

Symptoms of MOLLUSCUM CONTAGIOSUM are:


Pimples appear 2 to 7 weeks after the infection.
1.Occurs mainly on the trunk, face, hands and rarely on palms and soles

2.Small dome shaped with a central pimple

3.pearly white or flesh colored

4.Pimples varies between 2mm and 5mm in diameter

5.appears in groups although they sometimes occur singly

6.usually painless but can itch


Diagnosis of Molluscum contagiosum is based on the:
1.typical appearance of the rash

2.Skin scraping or biopsy  for microscopic examination.

Complications of MOLLUSCUM CONTAGIOSUM are:
1.Spread to to other parts of body and causes disfiguring
appearance

2.bacterial infection

Treatment of MOLLUSCUM CONTAGIOSUM is sometimes unnecessary.


The condition will disappear even without treatment and without leaving scars.


However this may take from a few weeks to a year.

If there is disfiguring spots on the face or if the child has low immunity, then treatment may be necessary:

1.apply to the pimples podophyllin paint or salicylic acid cream to dissolve the hard layer of molluscum

2.removal of the pimples by scraping them off (curettage) or freezing them (cryotherapy)

3.surgical removal can cause scarring so it is not recommended


Prognosis of Molluscum contagiosum is:
generally good

Prevention of Molluscum contagiosum is:

1.Avoid contact with any one who has the condition

2.Avoid casual sexual contacts

A Family Doctor's Tale - GIARDIASIS

DOC I HAVE GIARDIASIS

Giardiasis is an acute infectious illness caused by the single celled parasite Giardia lamblia

The bacteria which causes Giardiasis is the Giardia lamblia
which is an extremely hardy parasite able to live in  polluted water, contaminated food and soiled clothes.

Giardiasis infections occur most common in the small intestines.

The parasite can cling to folds of the lining of the small intestine and absorbs nutrients from the fluid in the intestines.

In this way the child may suffer from malnutrition.

The main symptoms of Giardiasis are
1. Many people with Giardiasis 75 % do not have any symptoms .


2.Symptoms of Giardiasis in other cases occur only 1-3 days after infection of the parasite


3. abdominal pain especially at the central part of abdomen


4.diarrhea with foul stools

5.abdominal bloating or gas

Doctors generally diagnose Giardiasis based on:
1. stool cultures.

2.blood tests

The complications of Giardiasis are:
Giardiasis is a disease which can cause :

1.dehydration

2.malnutrition

Treatment of Giardiasis is by:
Giardiasis is an infectious disease which can spread to other people through contaminated food and water.

Anti-parasitic medicines like metronidazole  three times a day for 10 days should work for mild to moderate disease.

Symptomatic treatment includes:
1.Rehydration salts for dehydration


2.antispasmodic drug to stop abdominal cramps

3.medicine to harden the stools such as kaolin

4.medicines to slow down the intestinal movement (lomotil or loperamide).

5.Get plenty of rest.

Prevention of Giardiasis can be by:

1.Good food hygiene and hand washing

2.Avoid contact with the feces of infected person


3.boil drinking and cooking water for 5 minutes

4.Proper filtration of water

5.proper treatment of swimming pools and filtration systems


6.Avoid raw food and vegetables especially in areas where there is giardiasis


Prognosis of Giardiasis is excellent with prompt treatment .


It is important to treat Giardiasis patients  even without symptoms to prevent the spread of Giardiasis.

A Family Doctor's Tale - KAWASAKI DISEASE

DOC I HAVE KAWASAKI DISEASE

Kawasaki Disease is a childhood disease which was first seen in Japan which typically cause fever, swelling of the lymph nodes, and symptoms affecting the skin and mucous membranes.

It occurs mainly in children below 5 years.

One of its notable features other than high fever and skin peeling is the complication of the disease on the arterial system of the heart.

The cause of Kawasaki Disease is believed to be an infection although no causative organism has been found.

An autoimmune disease has been suggested as the cause of the Kawasaki disease.

The triad of symptoms which are common to Kawasaki Disease are:

1.Fever with headache lasting for more than 5 days

2.Swelling of one or more lymph nodes in the neck

3.blotchy red rash over the entire body with typical skin peeling in the second week of illness

Other symptoms are:
4.sore throat with sometimes tonsillar swelling

5.dry cracked and swollen lips

6.conjunctivitis

7.reddening of the palms and soles

8.swelling of the hands and feet

9.skin peeling from the tips of the fingers and toes in the second week of illness

Disease usually lasts for 2-3 weeks.

Diagnosis
1.Classical symptoms and signs as above especially high fever, lymph nodes enlargement, rash and peeling of the skin from the fingers and toes.

2.blood tests (complete blood count, ESR, blood culture).

3.X-rays of chest and neck

4.ECG or electrocardiogram of the heart

5.CT Scan of the heart

Complications of Kawasaki disease:
1.arthritis

2.myocarditis (inflammation of the heart muscles)

3.myocardial infarction (heart attack)

4.coronary artery disease

Treatment of Kawasaki disease:
Suspected cases should be treated as early as possible because of possible heart complications

1.Bed rest in isolation ward

2.Adequate fluids

3.Antipyretic medicines such as paracetamol for fever

4.Aspirin may be given (in spite of the danger of Reyes Syndrome) to prevent blockage of the coronary artery of the heart.

5.Injections of gamma globulin is the main treatment for Kawasaki disease.

6.corticosteroids is useful to reduce complications such as arthritis and myocarditis

Prognosis of Kawasaki Disease is generally good.

Most children make a full recovery after about 3 weeks.

Myocarditis and arthritis may last for 6 to 8 weeks.

Coronary artery disease improves gradually over 1 year.

In 1-2 per cent of patients serious heart complications may occur.

A Family Doctor's Tale- LEPTOSPIROSIS

DOC I HAVE LEPTOSPIROSIS

LEPTOSPIROSIS is an acute infectious illness caused by the bacteria Leptospira with a wide spectrum of illness from inapparent to fatal.

The bacteria which causes LEPTOSIROSIS is the Leptospira interrogans which is an extremely hardy bacteria occurring in domestic and wild animals.

Humans are accidental hosts.

Human infections occur through abraded skin and exposed mucous membranes from urine or tissues of infected animal or through contaminated water soil and vegetation.

The bacteria can affect the liver, kidney, skeletal muscle, heart, spleen, lungs and central nervous system.

Hemorrhagic changes and necrosis of tissues may occur together with interstitial edema and lympocytic, plasma cell and neutrophilic leucocyte infiltration.

Symptoms and Signs of LEPTOSPIROSIS are:
Incubation period is approximately 10 days.


Illness is typically biphasic.

A.Leptospiremic or First Phase
1.Organisms found in the blood and cerebrospinal fluid

2.Abrupt onset of headache, myalgia, high fever and chills

This will last 4-9 days

3.Anorexia, nausea, vomiting, cough, chest pain, hemoptysis, conjunctival suffusion, cutaneous rash and hemorrhages seen.

B.Immune or Second Phase:
1.Correlates with appearance of circulating IgM antibodies

2.Clinical manifestations in this phase varies:
Patient may be asymptomatic for 1-3 days with return of fever and other symptoms of first stage.

3.Iridocyclitis, optic neuritis, encephalitis, myelitis,
and perpheral neuropathy and meningismus may occur.

Specific Leptospirosis Disease:
Weil's Disease:
is severe leptospirosis with
1.liver involvement with jaundice, hyperbilirubinemia
2.renal involvement with proteinuria, pyuria, hematuria
2.hemorrhagic manifestations with epistaxis, hemoptysis, GIT bleeding, subarachnoid hemorrhage
3.anemia
4.changes in consciousness
5.continuous fever
6.pneumonitis
7.aseptic meningitis
8.myocarditis

Doctors generally diagnose LEPTOSPIROSIS based on:
1. blood test and cultures.

2.cerebrospinal tests

3.animal innoculation

4.liver scan and ultrasound

LEPTOSIROSIS is a disease which can kill especially through its complications:
1.Liver disease due to damage to the liver leading to cirrhosis

2.Kidney disease can occur from damage to the kidney

3.Brain damage is rare but can occur from spread to the brain and meninges

4.Severe hemorrhage uncommon but can cause death

Treatment of  LEPTOSPIROSIS is :
LEPTOSPIROSIS is an infectious disease which can spread to other people through contaminated food and water.

1.Antibiotics such as penicillin and tetracycline are started once the diagnosis is confirmed.

2.intravenous drip and blood transfusion if necessary

Symptomatic treatment includes:
1.Paracetamol for relief of fever and headache

2.antispasmodic drug to stop abdominal cramps

3.medicine to stop vomiting and itch

4.Gradually reintroduce food, starting with bland, easy-to-digest food, like porridge or soups.

5.Get plenty of rest.

Prevention of LEPTOSPIROSIS can be by:
1..Avoid eating or drinking foods or liquids that might be contaminated especially by the germ and animals

5.Good food hygiene and hand washing

Prognosis of LEPTOSPIROSIS depends on the virulence of disease and general condition of the patient.

It is excellent with prompt treatment of leptospirosis infection.

Weil's disease is more serious but will respond well to treatment.

Infection of pregnant women may be associated with increased risk of fetal loss.

A Family Doctor's Tale -NIGHT BLINDNESS

DOC I HAVE Night Blindness

Night Blindness is defective vision in conditions of lowered illumination.

The main causes of Night Blindness is classified into 2 :

1.Congenital Night Blindness:
This is a simple congenital defect of:
a.dominant trait
b.recessive trait
c.recessive sex linked trait

2.Acquired Night Blindness:
This pathological state occurs when the rod function of the retina cells are depressed:
a.Vitamin A deficiency - prolonged deficiency can affect marked degenerative changes in the rods, then cones and subsequently in the neuronal layers of the retina


Causes of Vitamin A deficiency:
inadequate dietary intake
impaired absorption in celiac disease, tropical sprue or liver cirrhosis

b.retinitis pigmentosa - a degenerative disease of the retina affecting the cones and rods starting in the equatorial region and then spreading to the macular region

c.liver disease not associated with vitamin deficiency

d.rare mucopolysaccharidase deficiencies

e.Refsum disease

f.Choroideremia:
progressive atrophy of the choroid -very rare

g.Neuronal ceroid lipofuscinosis

h.Abetalipoproteinuria
Diffuse Night Blindness is inflammation in all areas of the uvea.

Night Blindness affects both eyes and are more common in the elderly:

Symptoms of night blindness:
1.inability to see well at dusk

2.worse after long phases in bright sunlight

Diagnosis of night blindness:
1.History, physical examination and family history eliminates the rarer causes of night blindness.

2.measurement of Vitamin A or carotene levels

3.An early clinical sign of Vitamin A deficiency is conjunctival prexerosis associated with triangular areas of keratinised epithelium at the temporal limbus .

These are called Bitot's spots.

Treatment of night blindness:
1.Most genetic causes of night blindness cannot be cured

2.Vitamin A deficiency:
high doses of Vitamin A of 50,000 to 100,000 units per day up to 14 days.
Longer treatment may cause Vitamin A toxicity and damage the liver.

3.Maintenance dose of 2500 units of Vitamin A(or 750mg) is recommended daily.

Prognosis of night blindness:
depends on the cause -no cure for genetic causes

Poor when due to secondary causes

Excellent in early treatment of Vitamin A deficiency

Prevention of night blindness:
1.knowledge of family history

2. avoid prolonged bright lights

3.Take natural forms of Vitamin A such as carotene in carrots, tomatoes, papaya and other vegetables and natural vitamin A in fish liver oils, liver and meat.

A Family Doctor's Tale - EYE INJURIES

DOC I HAVE AN EYE INJURY

EYE INJURY is an traumatic accident to the eye which is a delicate organ and cause permanent loss of vision.

The greatest danger of eye injury comes from sharp objects such as pencils, nails, and knife.
Sharp objects injury to the eye can lead to puncture of the eyeball with extrusion of the eye contents and will require surgery.

Scratches and cuts that damage the cornea and the white of the eye are the most common eye injuries.

Causes of EYE INJURIES can be divided into:
1.Superficial injuries that include corneal scratches and superficial cuts even by the edge of a paper,sand ,or grainy dirt particles.

2.Chemical injuries that occur when liquids such as acids or alkali(bleach, thinner, battery acid) enter the eye

3.Blunt injuries to structures of the eye that give rise to swelling of the eyelid or bruising of the tissues around the eye(examples are sports like basketball, football, boxing or martial arts or home repairs where balls, fists or hammer may hit the eye)

4.Penetrating injuries are serious injuries or cuts in the eye which may result in foreign objects including metal bodies being left in the eye. They require urgent medical attention and surgery.

Symptoms varies from mild to severe:

1.Severe pain in the eye or around the eye

2.burning sensation in the eye especially exposed to chemicals

3.blurred vision

4.Discharge -may be due to eye infection


5.Light sensitivity - sensitive to bright lights

6.bruises around the eyelids or cuts

Signs of injury to surface of or area around the eye:
1.bruising of the eyelid and surrounding area usually due to trauma

2.swelling of the eye or eyelid

3.tenderness of the eye


4.blurred vision

5.redness of the eye

6.feeling of something in the eye

Signs of injury to the inside of the eye:
1.blurred vision

2.seeing floating bodies or flashes of light

3.bleeding into the back of the eye(vitreous hemorrhage)

Diagnosis of EYE INJURIES:
1.Mild cases like chemical splash or small dust particles can be treated by a family doctor

2.More severe cases require an eye specialist to examine the eye with a slit lamp microscope to determine the inside of the eye including the retina and cornea.

3.Movements of the eye and testing of the nerves to eye may be needed.

4.X-rays of the may reveal fractures of the eye socket.

5.Ultrasound of the eye may be needed if there is a lot of bleeding in the eye

6.CAT scan or MRI of the eye may be necessary if a penetrating eye injury is suspected or a foreign body may be present.

The complication is always the risk of :
1.Severe infection of the eye especially with pseudomonas infection causing infection of the anterior chamber of the eye and then spreading to the rest of eye resulting in loss of an eye.

2.Scarring of the EYE INJURY resulting in partial loss of vision

3.metal from foreign body in the eye can cause loss of vision

Treatment depends on the type and extent of EYE INJURY:
A.Superficial injuries can be diagnosed with a stain called fluorescin.
Abrasions and depth of lacerations can be seen clearly with this. They require antibiotics and an eye patch.

Close follow up is needed when there is infection.

B. Chemical injuries require copious flushing of the eye to remove as much chemicals as possible and to minimize damage to the eye. Follow up is necessary to watch up for late complications such as raised eye pressure.

C.Traumatic Injuries to the eye
Bruises to the eye or eyelid -ice packs can be used to reduce swelling during the first 49 hours followed by warm compression to clear the blood

D. Penetrating injuries to the eye :
when there is vitreous hemorrhage or retinal detachment, a surgical procedure called vitreotomy may be necessary to restore vision.
This is a retina surgery where fine instruments are used to remove blood from the the inside of the eye or repair retinal detachment. An air bubble or silicone oil may be injected at the end of procedure to keep the eye in the normal shape.
Vitreotomy may also be necessary in penetrating injuries to remove any foreign body and repair any cuts or laceration inside the eye.
Foreign bodies that are not removed or untreated can result in severe eye infections and blindness.

The prognosis depends on the severity of the eye injury.

Most cases can be restored to normal if treated early.

Some cases may have minimum scarring of the cornea with possible loss of some vision.

Rarely the eye may be lost if there is severe infection and no treatment.

Prevention of Eye Injuries:
1.Take proper safety precautions when dealing with chemicals
and cleaning fluids.

2.Wear goggles when working with sharp instruments or poer tools like drill or saw

3.Avoid rubbing the eyes with hands when handling household cleaning fluids or chemicals of any kind

4. wash the hands thoroughly after handling chemicals or dusts from saws or drills.