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Dr. Irfan

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3157

Wounds and injuries are caused by external factors and are physiological in nature. However, there could be hidden wounds too. We can either relate to them as being psychological or not being externally caused.

There are a few factors that one must be very sure of and have the knowledge regarding them. All wounds and injuries are not the same. There are various kinds of wounds e.g. skin tear, open wound, abrasion, contusions, perforating wounds, etc., and so are the different injuries like the penetrating injury or mild to moderate fractures. Therefore, their healing process is also different.

Following are the most common must know facts about wounds and injuries:

        I.            Know the Consequences of not treating the wound

Always make sure that you are aware about the seriousness of the wound or injury you have suffered. Not all injuries have same symptoms or physiology. Never forget to clean your wounds immediately for they may become infected or contaminated. Small wounds should be cleaned at home but when it comes to open bleeding wounds, do not hesitate to seek doctor's help. Similarly, fractures can be mild to serious. A slight twist of the feet or ankles may cause a little pressure or pain but they might turn into serious issues of lesion fragmentation. Do not hesitate or delay medical attention.

 

      II.            Pain is significant for assessment

Pain is a significant measurement for the assessment of any kind of injury or wound. Make sure to state the type and amount of pain you are going through. Skin experts and nurses always make sure to assess the kind (pressure) and the source of pain the patient is experiencing. Similarly, if you vomit or suspect internal bleeding in an injury, never delay medical help.

 

    III.            Growth and development must be monitored

Always monitor the progress of your wound or injury. A slight paper cut can be healed at home by cleaning and bandaging, but a wound that is bleeding wide open and reverses to its original state time to time requires proper medical attention. Do not take the slow healing of your wound lightly. Swelling is also a sign of internal injury, do not ignore it.

 

    IV.            Depth and color of the injury

How deep is the wound? Is it bleeding too much? Never clean deep and severely bleeding wounds. Leave it open for your doctor to take care of. Depth of wound indicates the seriousness of injury and also the healing time and process. Never remove bandages to see how your wound is doing down there! Deep open wounds are a breeding place for bacteria to travel inside the skin. Color of the wound is another aspect one should be very careful of. Purplish or greenish wounds and scars are the indications of pus.

 

 

      V.            Psychology and aging

We often wonder how psychology is involved in wounds and injuries, but why not? We all know that every accident is not the same. Some wounds and injuries leave the affected mentally unwell. They cause the individual to lose their independence and lead to low self-esteem. It alters their self-image and restricts their life style as well. Family members and the injured individual should not feel shy to seek psychological help if the wounds are ugly and are causing cognitive impairment. Young individuals are affected the most due to the limitations an injury puts on them. Older people who suffer from injuries heal very slowly.

Although there are many factors that are very important to keep in mind regarding the kinds of injuries or wounds experienced by an individual, but the most basic and well known have been described above. You need to be very careful and gain medical attention immediately when it comes to the seriousness of the injury.

2717

Five Must-Know Facts about Wounds and Injuries

Wounds and injuries are caused by external factors and are physiological in nature. However, there could be hidden wounds too. We can either relate to them as being psychological or not being externally caused.

Wound

There are a few factors that one must be very sure of and have the knowledge regarding them. All wounds and injuries are not the same. There are various kinds of wounds e.g. skin tear, open wound, abrasion, contusions, perforating wounds, etc., and so are the different injuries like the penetrating injury or mild to moderate fractures. Therefore, their healing process is also different. Following are the most common must know facts about wounds and injuries:

1.       Know the Consequences of not Treating the Wound
Always make sure that you are aware about the seriousness of the wound or injury you have suffered. Not all injuries have same symptoms or physiology. Never forget to clean your wounds immediately for they may become infected or contaminated. Small wounds should be cleaned at home but when it comes to open bleeding wounds, do not hesitate to seek doctor's help. Similarly, fractures can be mild to serious. A slight twist of the feet or ankles may cause a little pressure or pain but they might turn into serious issues of lesion fragmentation. Do not hesitate or delay medical attention.

2.       Pain is Significant for Assessment
Pain is a significant measurement for the assessment of any kind of injury or wound. Make sure to state the type and amount of pain you are going through. Skin experts and nurses always make sure to assess the kind (pressure) and the source of pain the patient is experiencing. Similarly, if you vomit or suspect internal bleeding in an injury, never delay medical help. People who have taken medical assistant courses can accurately assess the extent of the wound. It is recommended that you get an online medical assistance courses which will help you understand the wound and injuries in a better way.
3.       Growth and Development Must be Monitored
Always monitor the progress of your wound or injury. A slight paper cut can be healed at home by cleaning and bandaging, but a wound that is bleeding wide open and reverses to its original state time to time requires proper medical attention. Do not take the slow healing of your wound lightly. Swelling is also a sign of internal injury, do not ignore it.
 
4.       Depth and Color of the Injury
How deep is the wound? Is it bleeding too much? Never clean deep and severely bleeding wounds. Leave it open for your doctor to take care of. Depth of wound indicates the seriousness of injury and also the healing time and process. Never remove bandages to see how your wound is doing down there! Deep open wounds are a breeding place for bacteria to travel inside the skin. Color of the wound is another aspect one should be very careful of. Purplish or greenish wounds and scars are the indications of pus.

5.       Psychology and Aging
We often wonder how psychology is involved in wounds and injuries, but why not? We all know that every accident is not the same. Some wounds and injuries leave the affected mentally unwell. They cause the individual to lose their independence and lead to low self-esteem. It alters their self-image and restricts their life style as well. Family members and the injured individual should not feel shy to seek psychological help if the wounds are ugly and are causing cognitive impairment. Young individuals are affected the most due to the limitations an injury puts on them. Older people who suffer from injuries heal very slowly.
Although there are many factors that are very important to keep in mind regarding the kinds of injuries or wounds experienced by an individual, but the most basic and well-known have been described above. You need to be very careful and gain medical attention immediately when it comes to the seriousness of the injury.

 

3352

What is Down syndrome?

Down syndrome, also known as Trisomy 21, is a genetic disorder in which the baby is born with an extra copy of chromosome 21. This condition is one of the leading causes of cognitive impairment. Every child born with this condition is different. Almost all the people with Down syndrome are found to have intellectual disabilities, as well as physical problems. Some other health problems may also be seen in people with Down syndrome. Most of the babies with Down syndrome are born with heart disease. Some of them have dementia. Some of these patients have problems with eyes, thyroid, skeleton, and intestines. Hearing problems are also associated with this congenital disorder.

Chromosomes in Down syndrome “ an overview

Down Syndrome (risk factors, symptoms, diagnosis, treatment)As stated earlier, an extra copy of chromosome 21 is responsible for the whole condition. Normally, a person has 46 chromosomes, 23 from mother and 23 from father. But in this condition, the baby inherits one extra chromosome from one of the parents. Mostly, the extra copy of chromosome 21 comes from the mother.

Sometimes, the person with Down syndrome does not have an extra copy. He rather inherits extra chromosome 21 genes. This is very rare but possible. This condition of inheriting extra genes is called translocation.

On the other hand, in some cases, baby inherits additional genes from chromosome 21 but not in every cell of the body. Such condition is referred as mosaic Down syndrome. Such individuals have all the symptoms similar to that of a person with Down syndrome.

 

Risk factors for conceiving a child with Down syndrome

Advanced maternal age is the only risk factor for conceiving a child with Down syndrome. The greater the age of mother, the greater is the risk of a child with Down syndrome. Age above 40 is considered risky. If a mother has a child with Down syndrome, there are greater chances of having the next baby with Down syndrome.

Down Syndrome (risk factors, symptoms, diagnosis, treatment)

Symptoms of Down syndrome

Although the symptoms of Down syndrome vary from person to person, most patients with Down syndrome have physical characteristics that are recognizable.

  • The most common and recognizable symptom seen in individuals with Down syndrome is a flattened face and nose. Their neck is shorter than normal. They have small mouth, small ears, and a large protruding tongue.
  • Brushfield spots (little white spots) on the iris (colored part of the eye) are seen in most of the cases.
  • All the individuals with Down syndrome have delayed growth and development. They don't reach the average height; neither do they reach the developmental milestones. They are usually weak and have poor muscle tone.

Delayed cognitive impairment

This is the most common condition associated with Down syndrome. Cognitive development of the affected child is delayed and they have difficulty in learning. The brain size of such individuals is smaller than the normal individuals.

Down syndrome also involves other systems and causes problems such as:

  • Cardiac problems
  • Gastrointestinal tract disorders
  • Cancer
  • Sleep apnea
  • Frequent infections
  • Obesity
  • Hypothyroidism
  • Infantile spasms
  • Visual impairment
  • Dementia
  • Autism
  • Depression
  • Obsessive compulsive disorder

 

Prenatal screening tests

Prenatal screening options are offered to the parents who think they are at the risk of conceiving a child with Down syndrome. Screening tests include:

  • Alpha-fetoprotein screening “ being most widely used
  • Nuchal translucency test
  • Ultrasonograpghy

 

Click here for details on Down syndrome

 

Diagnosis of Down syndrome

Latest technology has made it possible to diagnose Down syndrome before birth.

  • Amniocentesis: It is performed between 16 and 20 week of gestation (pregnancy).
  • Chorionic villus sampling: Performed between 11 and 12 weeks of pregnancy.

Warning: There is a very little risk of miscarriage while performing these tests. However, most of the mothers, who had these tests, had a normal vaginal delivery without any early or late complications.

Diagnosis after birth: If a child is born with symptoms of Down syndrome, the diagnosis can be confirmed with the help of chromosomal analysis.

 

What is the treatment of Down syndrome?

No doubt, genetic cause of Down syndrome is known; there is no cure of this disease yet. The treatment given to the patients with Down syndrome is symptomatic. Surgeries are performed if the disease is showing severe symptoms such as cardiac abnormalities or gastrointestinal tract irregularities.

 

Reference

http://www.nlm.nih.gov/medlineplus/downsyndrome.html

http://neurosciences.ucsd.edu/CENTERS/DOWN-SYNDROME-CENTER/Pages/default.aspx

http://www.nichd.nih.gov/health/topics/down/conditioninfo/Pages/treatments.aspx

8449

What is rheumatoid arthritis?

Rheumatoid arthritis (RA) is a systemic autoimmune disorder that is characterized by chronic, destructive, inflammatory arthritis with symmetric joint involvement that results in hypertrophy and pannus formation. This disease typically attacks the synovial joints, ultimately leading to erosion of adjacent bone, tendons, and cartilage.

What are the possible causes of RA?

The causes of rheumatoid arthritis are still not completely known. Some experts say that rheumatoid arthritis is genetic. It is strongly associated with HLA-DR4.

What is HLD – DR4 Gene?

This gene is one of the genetic markers of Rheumatoid Arthritis. It is also known to show involvement in Lyme Disease.

Click here for further information about Lyme Disease.

People at the late stages of the disease with severe symptoms, not responding to antibiotics are found the have the HLA-DR4 gene. It has been described by the researchers that when microorganisms move to the joint, the body’t immune response against the microorganisms cross react with the body’s own tissue resulting in initiation of an autoimmune reaction. This auto immune reaction in turn causes pain and inflammation.

Who is at the risk of developing rheumatoid arthritis?

Females, 35-50 years old, are more likely to develop rheumatoid arthritis as compared to men. The individuals with positive family history of rheumatoid arthritis are also at high risk.

Rheumatoid arthritis (Causes, Symptoms, Diagnosis, Treatment)Presentation of rheumatoid arthritis

Sign & Symptoms

Rheumatoid arthritis primarily affects the joints. The joints become tender, warm, swollen and stiff which limits their movement. As the time passes, RA attacks multiple joints. This condition is known as polyarthritis. Small joints, such as joints of hands and feet, are affected more often than larger joints. . Joints like knee and shoulder can also be involved but it is very rare.

The typical case of rheumatoid arthritis presents with insidious onset of morning stiffness for more than one hour along with warm and painful swelling of multiple symmetric joints such as wrist, metacarpal joints, shoulders, elbows, hips, knees, and ankles for more than six weeks.

Patients may also complain of:

  • Fever
  • Fatigue
  • Anorexia
  • Malaise
  • Weight loss

In late cases, ulnar deviation of the fingers occurs with hypertrophy of metacarpal joints.

Patients suffering from rheumatoid arthritis may also present with:

  • Ligament and tendon deformations such as swan-neck and buotonniere deformities
  • Vasculitis
  • Atlantoaxial subluxation
  • Keratoconjuctivitis sicca

Note only the joints; rheumatoid arthritis may also affect other organs/systems such as

  • Skin
  • Lungs
  • Kidneys
  • Heart
  • Blood vessels

Local osteoporosis may also occur due to rheumatoid arthritis

 

How is RA Diagnosed?

rheumatoid-arthritis-diagnosis

Radiographs: X-rays of hands and feet are usually performed in the people suffering from polyarthritis. Early stages of rheumatoid arthritis show normal x-ray. However, soft tissue swelling and juxta-articular demineralization may be seen. In the late stages, symmetrical joint space narrowing and erosions are usually seen on x-rays.

Complete blood count (CBC): CBC shows

  • Raised WBCs (may rise up to 50,000 cells/΅L)
  • Raised ESR
  • Low hemoglobin (anemia of chronic disease)
  • Raised rheumatoid factor (RF)
  • Presence of anti-CCP antibodies “ specific but not diagnostic

Synovial fluid aspirate: It shows turbid fluid and decreased viscosity.

 

Am I really suffering from RA? Differential diagnosis “ rheumatoid arthritis

There are other diseases that may mimic rheumatoid arthritis. Don't make the final diagnosis on your own without physician's opinion. Here are the diseases that must be ruled out before making the final diagnosis.

  • Gout & pseudogout
  • Osteoarthritis
  • Systemic lupus erythematosus
  • Psoriatic arthritis
  • Reactive arthritis
  • Ankylosing spondylitis

How is rheumatoid arthritis treated?

There is no treatment that can cure this disease. However, some drugs improve the symptoms and decrease the disease progression. The purpose of the treatment is to prevent bone deformity and relief the symptoms such as pain and swelling.

Medications

Disease-Modifying Anti-Rheumatic Drugs (DMARDs):

DMARDs are the first line drugs in case of RA. Almost all the patients suffering from rheumatoid arthritis are treated with at least one DMARD.

DMARDs include:

  • Methotrexate
  • Hydroxychloroquine
  • Sulfasalazine

Methotrexate is the best initial DMARD to start with.

Second-line agents

Second-line agents are the drugs that are used if first line therapy drugs are contraindicated. Second-line drugs include:

  • Tumor Necrosing Factor (TNF) inhibitors
  • Rituximab (anti-CD20)
  • Leflunomide

Non-Steroidal Anti-Inflammatory Drugs (NSAIDs):

NSAIDs are usually prescribed to the patients with RA to relief symptoms, such as pain and swelling, which affect the patients' daily life.

Key facts about rheumatoid arthritis that you must know

  • Keratoconjunctivitis sicca secondary to Sjogren's syndrome is a common ocular manifestation of rheumatoid arthritis
  • Felty's syndrome is characterized by:
    • Rheumatoid arthritis
    • Splenomegaly
    • Neutropenia
  • The distal inter phalyngeal joint is spared in rheumatoid arthritis but is involved in osteo-arthritis
  • Hydroxychloroquine causes retinal toxicity

 

Reference:

http://www.nlm.nih.gov/medlineplus/rheumatoidarthritis.html

http://www.niams.nih.gov/Health_Info/Rheumatic_Disease/

http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm

http://www.arthritis.org/types-what-is-rheumatoid-arthritis.php

 

3980

Inflammation of the appendix is known as Appendicitis. It is a medical emergency and mostly requires surgical removal of the appendix. The appendix is located on the lower right abdomen and is a part of large intestine. The point where appendix lies is called McBurney's point. Appendicitis can be fatal if left untreated. If surgery is not performed on time, appendix may rupture leading to inflammation and infection of peritoneum (Intestinal lining). This condition is clinically known as Peritonitis.

appendicitis

Common Causes of Appendicitis

The primary cause of acute appendicitis is the obstruction of appendix. Due to the obstruction of appendix lumen, appendix becomes filled with mucus which results in the swelling. Later on, thrombosis and occlusion of small vessels occur due to which appendix becomes ischemic and necrotic.

The most common causative agents are foreign bodies. Besides that, trauma, fecoliths, and lymphadenitis can also cause the obstruction. Intestinal worms are also known to block the appendix but this is very rare.


AppendicitisClinical presentation “ How do the patients suffering from appendicitis present?

The classical presentation of clinical appendicitis:

  • Pain in the abdomen
  • Vomiting
  • And fever

Pain begins around the umbilicus (belly button) which later on radiates to right lower quadrant. The pain exaggerates when patient coughs.

How is appendicitis diagnosed?

Diagnosis is mainly clinical based on patient's history. However following test are usually performed to confirm the diagnosis.

Lab Tests

Complete Blood Count (CBC): In half the cases, blood test is normal. So it is not significant in confirmation of the diagnosis of appendicitis. In some cases, white blood cells count may be raised (>10,000) which indicates infection or inflammation in the body.

Normal WBC count doesn't rule out appendicitis. WBCs are usually raised during pregnancy.

C-Reactive Protein (CRP): A protein released by the liver in response inflammation and infection in the body. This test is not diagnostic.

Pregnancy Test: A pregnancy test must be performed in the women of child bearing age to rule out ectopic pregnancy. This is because both cases present with acute abdomen.

Imaging

  • X-Ray: In only 10% of the cases, x-ray films show the presence of fecolith or any obstruction.
  • Ultrasound: Ultrasonography (USG) has sensitivity of 86% and is specific in 81% of the cases.
  • Magnetic Resonance Imaging (MRI): It has 96% sensitivity and specificity.

USG & MRI are known to be very helpful in the diagnosis of appendicitis.

What are the signs of Appendicitis?

There are various signs that indicate appendicitis. Below are the commonly used signs of appendicitis in today's practice.

  1. Bloomberg's Sign: Also referred as rebound tenderness. Relief of pain on deep palpation of right iliac fossa (RIF) or right lower abdomen, and severe pain on sudden release indicated positive Bloomberg's sign.
  2. Obturator sign: Severe pain on flexion and internal rotation of the hip is considered as positive Obturator sign.
  3. Dunphy's sign: Elevation of pain in right iliac fossa with coughing.
  4. Psoas sign: Pain in right lower abdomen with passive extension or active flexion of the patient's right hip in supine position is positive Psoas sign.
  5. Rovsing's sign: Constant deep palpation of left iliac fossa may cause pain in right iliac fossa.

 

Scoring systems for the diagnosis of appendicitis

Alvarado scoring system is the most commonly used scoring system for the diagnosis of appendicitis.

The division of points in Alvarado scoring system is given below.

  • Pain in right lower abdomen “ 2 points
  • Leukocytosis (Raised WBCs) “ 2 points
  • Migratory RIF pain “ 1 point
  • Nausea & Vomiting “ 1 point
  • Fever “ 1 point
  • Anorexia (loss of appetite) “ 1 point
  • Rebound tenderness “ 1 point
  • Shift to left (segmented neutrophils) “ 1 point
  • Total score “ 10 points

A total score of 7 or more strongly indicates appendicitis which can be confirmed with the help of CT or MRI, while a score below 5 is against the diagnosis of appendicitis. If the total score is 5 or 6, further investigations such as CBC, CT, or MRI along with the detailed history help in the diagnosis.

Management of appendicitis

As acute appendicitis is a medical emergency, it must be aggressively treated. Delaying the treatment may result in the rupture of inflamed appendix leading to peritonitis and severe infection which can spread to other viscera. Appendicitis can cause death if left untreated.

Appendicitis is typically managed by surgery. If caught in early stages, appendicitis can be treated with antibiotics only but there is a great risk of recurrence.

Medication

  • Pain killers such as morphine are given at early stages.
  • Anti emetics: to prevent nausea and vomiting.
  • Anti-pyretics are given in case of fever.

None of these drugs are known to cause conflicts with the diagnosis of appendicitis.

Surgery

Surgical removal of appendicitis is the typical treatment of this disease. The surgical procedure involved in the removal of appendix is called Appendectomy. The appendix is removed during the surgery. There are no known complications involved in the surgical procedure. However, the patients with hypertension, diabetes, and hematological diseases must be operated carefully.

 

References

http://digestive.niddk.nih.gov/ddiseases/pubs/appendicitis/

http://www.nlm.nih.gov/medlineplus/ency/article/002921.htm

http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Appendicitis

3278

Spina Bifida “ Neural Tube Defects

Neural Tube Defects (NTDs) are the defects in brain, spine, or spinal cord of the newborns. NTDs are one of the most common birth defects. They occur when the neural tube fails to close completely during the development of fetus. This leads to number of different defects, depending upon the location of the abnormality.

Types of Neural Tube Defects

Spina Bifida

There are 2 types of NTDs: Open & Closed

Open NTDs: These kinds of defects occur when the brain or spinal cord of the newborn are exposed at birth. The common types of open NTDs include:

  • Spina Bifida
    • Spina Bifida Occulta
    • Meningocele
    • Myelomeningocele
  • Anencephaly
  • Hydranencephaly
  • Encephaloceles

Close NTDs: These defects occur when the spinal defects are hidden under the skin. Common closed NTDs include:

  • Lipomeningocele
  • Lipomyelomeningocele
  • Tethered cord

In all the above types of neural tube defects, Spina Bifida is one the most significant neural tube defect. This article will cover the cause, symptoms, diagnosis, and treatment & prevention of Spina Bifida.

What is Spina Bifida?

Spina Bifida is a birth defect which means cleft spine. It occurs due to incomplete development of the brain, spinal cord, and meninges. The bones of the spine are not formed properly around the spinal cord. Most of the children suffering from Spina Bifida do not experience problems. However, in severe cases, this defect can make walking or other daily activities difficult without help.

The severe forms of Spina Bifida are:

  • Meningocele: The leakage of fluid (cerebrospinal fluid “ CSF) makes the skin bulge out.
  • Myelomeningocele: It is the most severe form of Spina Bifida and is very rare. The spinal canal is pushed out by spinal nerves. This forms a bulge in the skin. In this case, the nerves are often damage which result in problems with walking, coordination, and bladder/bowel control. In some cases, the skin is open and nerves are exposed.

What causes Spina Bifida?

The cause of Spina Bifida is still not clearly known. However, experts believe that genes are involved. They also believe that obese or diabetic women are more likely to have a baby with this defect.

Symptoms of Spina Bifida

The symptoms of this defect vary from child to child. Usually no symptoms or problems are found in the children with mild defect. A hairy patch may be seen on the back of the baby's neck.

Spina Bifida

In severe cases, the nerves are seen coming out of child's back. Or you may notice the swelling on the child's spine. In severe cases, due to nerve damage, following symptoms are usually seen:

    • Lower limb weakness
    • Paralysis of the lower limb
    • Urinary Incontinence
    • Irritation on the skin
    • Abnormal eye movements
    • Uncoordinated movements

How can you diagnose Spina Bifida?

A woman during her pregnancy should get regular blood tests, fetal ultrasound, and frequent visits to gynecologist. Spina Bifida can be caught on ultrasound. It the test results suggest NTD, amniocentesis is recommended. This is the diagnosis of choice for Spina Bifida.

After birth, Spina Bifida can be diagnosed clinically by physical examination, X-ray, MRI, or a CT scan.

Treatment of Spina Bifida

Treatment also depends on the severity of the defect. Mild defects usually do not need any kind of medications or treatment. However, in severe cases, surgery might be required.

In all, there is no specific treatment for Spina Bifida

Remember: Prevention is better than cure. Pregnant women must take proper diet and folic acid. And they must avoid drugs that are contraindicated in pregnancy.

How to prevent Neural Tube Defects “ Spina Bifida

Folic acid is the key to prevention of Spina Bifida. Folic acid is an essential vitamin for the proper development of fetus. Taking folic acid regularly does not guarantee giving birth to healthy baby, but it does help.

 

2954

What is cystic fibrosis?

Cystic fibrosis (FB) is a life threatening illness that causes severe damage mainly to the lungs and digestive system. It is an inherited (autosomal recessive genetic) disorder and is characterized by buildup of thick sticky mucus.

Mucus is a slippery substance present in human body that protects the inner linings of many organs such as respiratory system, digestive system, etc.

In patients with cystic fibrosis, abnormally thick and sticky mucus is produced. This abnormal mucus is thick and sticky enough to clog the respiratory airways leading to severe breathing problems. Not only respiratory system, this abnormal mucus affects digestive system as well, which can be fatal.

Cause of Cystic Fibrosis?

Cystic fibrosis is caused by mutation in CFTR gene “ Cystic Fibrosis Transmembrane Conductance Regulator.

Click Here for more information about CFTR gene

Sign & Symptoms of Cystic Fibrosis

Sign & symptoms of cystic fibrosis vary in different patients depending on the severity of the illness. Symptoms may keep varying with time, even in the same person. The symptoms of cystic fibrosis usually occur in adolescence or early adulthood but in some cases, signs and symptoms may be seen at early ages.

People with cystic fibrosis have remarkably higher level of salts in their sweat. Mostly, signs and symptoms of cystic fibrosis are seen in respiratory and digestive system.

How cystic fibrosis does affect respiratory system?

 

Cystic FibrosisAbnormally thick and sticky mucus is released in respiratory airways resulting in the obstruction of the airways. This obstruction causes severe respiratory symptoms such as:

  • Persistent cough with thick sputum
  • Heavy breathing
  • Shortness of breath (dyspnea)
  • Frequent chest infections
  • Inflamed nasal passages

Effects of cystic fibrosis on digestive system

cystic fibrosis digestive symptoms

The thick sticky mucus also blocks the digestive tract or digestive tract passages which transport digestive enzymes. Without these essential digestive enzymes, your intestine is not able to absorb the minerals and nutrients from the food and as a result, following symptoms may be seen in patients:

    • Foul-smelling stools
    • Greasy stools
    • Poor growth
    • No weight gain (weight loss may be seen in some cases but it is rare)
    • Severe constipation

 

Effects on Endocrine System

  • Diabetes: The thick secretions in patients with cystic fibrosis can also damage the pancreas, which is responsible for producing insulin. Damage to pancreas may lead to diabetes.
  • Osteoporosis & weak bones: Vitamin D is essential for our bones because it is involved in calcium and phosphate regulation. Because of the defects in digestive system, vitamin D is poorly absorbed by the body which leads to weak bones, and bone diseases such as osteoporosis.

Effects on Reproductive system

Infertility may be seen in people with cystic fibrosis. More than 97% of men with cystic fibrosis suffer from infertility. Some women are also infertile due to thickened cervical mucus.

How to diagnose cystic fibrosis?

Cystic FibrosisParents should be very cautious if they find the sweat of their child saltier than normal. It is usually noticed by parents when they kiss their child.

Newborn screening & diagnosis

It is very useful to screen your child for cystic fibrosis at birth. All 50 states in US are screening newborns for cystic fibrosis. The screening test is blood test for immunoreactive trypsinogen (IRT). IRT is released by pancreas. High levels of IRT are indicative of cystic fibrosis. If IRT is higher, further testing is done to confirm the diagnosis.

  • Sweat test: Sweat of the baby (at least 1 month old) is tested if it is saltier than normal.
  • Genetic testing: DNA samples of the newborn are tested for defects on CFTR gene.

Testing for cystic fibrosis is recommended for older children and adults who were not screened at birth.

Post-diagnosis testing

If cystic fibrosis is diagnosed, regulars test are needed to help in the proper management of the disease. Following tests are included:

  • Imaging: Imaging tests such as x-ray, CT scan, and MRI are done to see the extent of damage caused to lungs or intestines.
  • Lung function test: Lung test are recommended to see how well your lungs are functioning. Lung functioning test measure the size, capacity, and elasticity of the lungs.
  • Sputum culture: Sputum of the patient is collected and analyzed microscopically for bacteria.

Other tests: Many other tests are done to see the functioning of the body. These tests include:

  • Complete blood count (CBC)
  • Liver function tests (LFTs)
  • Renal function tests (RFTs)
  • Blood sugar level

Treatment of cystic fibrosis

There was a time when cystic fibrosis was thought to be an incurable condition. But now researchers have discovered a novel therapy against cystic fibrosis.

Novel Therapy Against Cystic Fibrosis Discovered by Researchers

Besides that, the mainline treatment is symptomatic treatment. The goal is to keep the symptoms of the disease to a minimum. Treatment includes:

  • Treat lung infections: Give oral or intravenous antibiotics.
  • Cough with sputum: Bronchodilators to keep your airways open and relaxed.
  • Mal-nutrition: Provide adequate nutrition + oral pancreatic enzymes
  • Mucus thinning drugs: To help you cough out the mucus.
  • Anti-inflammatory drugs (NSAIDs): To prevent inflammation in respiratory airways.

Along with all these medications, physicians usually recommend chest physical therapy (CPT). CPT is found to be very helpful in coughing out thick mucus.

Cystic fibrosis can be fatal as it causes life-threatening complications. The complications can be seen in many organs but are mainly seen in lungs and digestive system.

Complications in respiratory system:

  • Bronchiectasis: Cough with lot of foul-smelling sputum.
  • Nasal polyps: Small outgrowths in nostrils.
  • Chronic infections: Pneumonia, bronchitis, sinusitis, etc.
  • Pneumothorax: Air in pleural space

Digestive system complications:

  • Diabetes
  • Blocked bile duct: may lead to gall stones
  • Nutritional deficiencies
  • Rectal prolapsed: protrusion of rectum out of anus.

References:

Guide to understanding genetic conditions

Natural Human Genome Research Institution

Cystic Fibrosis Research, Inc.

National Center for Biotechnology Information