Case History : Recurrent Abortions

 Case History :

A 28 year old woman comes with her husband to your OPD.

She has one daughter and they are looking forward to having more children.

She has had 2 abortions and want to have your opinion on further management with a view to find out the underlying cause of her abortions and get treatment for conceiving.

On examination she has a pale appearance.

She appears weak and also complains of dizziness on standing up and feeling tired all the time.

Her BP is 100/60 mmHg

No obvious goiter visible.

Her weight is 65 kg.

1 .Which investigations would you like to order for her?

2.What are common causes of recurrent abortions/ Recurrent pregnancy loss (RPL).

3.How will you approach a case of recurrent abortions ?

4.Her brucella serology is found to be positive

How will you treat/ manage this patient?

Answers given below in comments section.

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1. Which investigations would you like to order for her:

Full Blood Count

Infectious diseases screen

Brucella serology

Syphilis / VDRL Test

Toxoplasmosis screen

Thyroid Function tests

Sugar levels and Hba1c if applicable

Ultrasound of abdomen.

High Vaginal swab.

Hormone profile

2. What are the common causes of recurrent abortions / Early pregnancy Loss ? 

There are a number of causes of recurrent abortions.

Genetic Etiologies

Approximately 2% to 4% of RPL is associated with a parental balanced structural chromosome rearrangement, most commonly balanced reciprocal or Robertsonian translocations.

Additional structural abnormalities associated with RPL include chromosomal inversions, insertions, and mosaicism. Single gene defects, such as those associated with cystic fibrosis or sickle cell anemia, are seldom associated with RPL.

Infectious Causes:

Certain infections, including Listeria monocytogenes, Toxoplasma gondii, rubella, herpes simplex virus (HSV), measles, cytomegalovirus, and coxsackieviruses, are known or suspected to play a role in sporadic spontaneous pregnancy loss.

Others include Brucellosis and syphilis.

The proposed mechanisms for infectious causes of pregnancy loss include:

(1) direct infection of the uterus, fetus, or placenta,

(2) placental insufficiency,

(3) chronic endometritis or endocervicitis,

(4) amnionitis, or

(5) infected intrauterine device.

Endocrine Etiologies

Luteal phase defect (LPD), polycystic ovarian syndrome (PCOS), diabetes mellitus, thyroid disease, and hyperprolactinemia are among the endocrinologic disorders implicated in approximately 17% to 20% of RPL ( Recurrent Pregnancy Loss ).

Immunologic Etiologies

Because a fetus is not genetically identical to its mother, it is reasonable to infer that there are immunologic events that must occur to allow the mother to carry the fetus throughout gestation without rejection. In fact, there have been at least 10 such mechanisms proposed.

Thrombotic Etiologies

Both inherited and combined inherited/acquired thrombophilias are common, with more than 15% of the white population carrying an inherited thrombophilic mutation.

The most common of these are the factor V Leiden mutation, mutation in the promoter region of the prothrombin gene, and mutations in the gene encoding methylene tetrahydrofolate reductase (MTHFR).

The potential association between RPL and heritable thrombophilias is based on the theory that impaired placental development and function secondary to venous and/or arterial thrombosis could lead to miscarriage.

Environmental Etiologies :

Links between sporadic and/or RPL and occupational and environmental exposures to organic solvents, medications, ionizing radiation, and toxins have been suggested.

Three particular exposures-smoking, alcohol, and caffeine-have gained particular attention, and merit special consideration given their widespread use and modifiable nature.

Although maternal alcoholism (or frequent consumption of intoxicating amounts of alcohol) is consistently associated with higher rates of spontaneous pregnancy loss,

3. How will you approach a case of recurrent abortions ? 

Genetic etiology : Genetic counseling.

Balanced translocations IVF with preimplantation genetic diagnosis

Müllerian anomalies : 

Hysteroscopic resection of septa, adhesions, and submucosal fibroids. Asherman syndrome :Myomectomy for those intramural and subserosal fibroids >5 cm

PCOS :Metformin

Hypothyroidism :Thyroid hormone replacement

Luteal phase defect/unexplained : Progesterone supplementation

Diabetes mellitus: Appropriate management of diabetes, insulin if indicated.

Infectious :Antibiotics for endometritis or underlying infection.

Autoimmune :Low-dose aspirin plus prophylactic LMWH in women without a history of a systemic autoimmune disease such as SLE, or a history of thrombosis.

4.Her brucella serology is found to be positive

How will you treat/ manage this patient? 

According to the CDC, doxycycline (Vibramycin) and rifampin (Rifadin) are the recommended antibiotics, taken in combination, for a minimum of six to eight weeks to treat infected patients. 

This long treatment time is due to the organism's ability to survive inside human cells; consequently, the CDC recommends that a firm diagnosis be established before long-term antibiotic treatment is begun.

 Advise the patient to avoid getting pregnant during this treatment and also that Rifampicin can cause red discoloration of urine and tears.

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Case History : A 65 year old man presents with generalized weakness ,cough and shortness of breath since 10 days and left sided chest pain.

 A 65 year old man presents with generalized weakness ,cough and shortness of breath since 10 days and left sided chest pain.

The admitting resident physician admits the patient and starts the patient on ventolin nebulization TDs and organizes a Chest X-ray .

The chest X ray is given below:

1. What is the most likely diagnosis?

2. Which specific questions should be asked in the history?

3. Which further investigations need to be performed in this patient?

4. What would be your management plan?

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Answers & Discussion :

1. What is the most likely diagnosis? 

The most likely diagnosis is left sided pleural effusion and right hilar congestion.

2. Which specific questions should be asked in the history?: 

Ask about past history of smoking which predisposes to lung ca. 

Also any weight loss, night sweats and haemoptysis which will be present in Pulmonary TB and Lung carcinoma . 

In addition any palpable lymph nodes in axillary region or other parts of body suggestive of lymphadeopathy. ( Have you noticed any lumps or bumps on your body ?

3. Which further investigations need to be performed in this patient?; 

Pleural tap and pleural fluid Routine examination ( Ultrasound guided) .

Pleural fluid culture and sensitivity. CT scan of chest Sputum for Acid Fast Bacilli ( for TB) 

Sputum Culture and sensitivity 

Quantiferon Gold test for Tuberculosis ESR.

4. What would be your management plan? 

Determine the underlying cause of the pleural effusion and treat accordingly eg if TB : 

Antituberculous treatment. 

In case of cancer , keeping in mind the old age of patient , aggressive treatment for it may not be appropriate but palliative and symptomatic treatment for pain re;ief and keeping the patient comfortable may be the treatment of choice.

Case History : A 60 year old lady presents with pain and stiffness of left knee joint

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A 60 year old woman has come to your OPD complaining of pain and stiffness in left knee since last 5 months. Pain is more during walking .There is no history of trauma to the joint.

You decide to order an X-ray of left knee joint (AP and lateral views) . Images are given below :

What is the most likely diagnosis ?

What are other clinical features of this condition?

What are the radiological findings of this condition?

How do you manage this disease?

Answers :

What is the most likely diagnosis :

Most likely Diagnosis is Osteoarthritis of Left Knee joint.

What are other clinical features of this condition?

Signs and symptoms of osteoarthritis include:

Pain.:

Affected joints might hurt during or after movement.

Stiffness.

Joint stiffness might be most noticeable upon awakening or after being inactive.

Tenderness.

Loss of flexibility.

Grating sensation.

Bone spurs.

Swelling.

What are the radiological findings of this condition?

X-rays can show if there is a loss of joint space between the femur and tibia, indicating a loss of cartilage in the knee.

An x-ray can also show bone spurs, a sign that the bones have tried to compensate for cartilage loss with extra bone growth.

How do you manage this disease?

Medications that can help relieve osteoarthritis symptoms, primarily pain, include:

Acetaminophen has been shown to help some people with osteoarthritis who have mild to moderate pain. .

Nonsteroidal anti-inflammatory drugs (NSAIDs).

Duloxetine

Physical therapy.

A physical therapist can educate about exercises to strengthen the muscles around the joint, increase flexibility and reduce pain.

Regular gentle exercise that one can do on their own, such as swimming or walking, can be equally effective.

Occupational Therapy

An occupational therapist can help patient discover ways to do everyday tasks without putting extra stress on their already painful joint.

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Neurology : Causes of Acute or Subacute paraplegia:

 Causes of Acute or Subacute paraplegia:

Cord compression :

Primary or secondary tumor 

Herniated disc

Guillain Barre Syndrome

Transverse Myelitis  

HIV

Behcet Syndrome

Multiple Sclerosis

SLE

Vascular causes :

Aortic dissection

Spinal cord SAH

Anterior spinal artery thrombosis

Cord compression:

Epidural abscess

Osteomyelitis ( including TB)

Other causes :

Deficiency diseases :

B 12 deficiency

Beri Beri

Alcoholic neuropathy

Toxic polyneuropathies

Severe hypokalemia

Tick paralysis

Porphyric polyneuropathy

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Case History : Patient with Diabetes Mellitus

 Case History :

A 62 year old female comes to your OPD.

She is a known diabetic and hypertensive.

She is taking Tablet Glicon 5 mg per day for her Diabetes since last 6 months.

Her BP is found to be 150/90 mmHg

She has been complaining of recent apprehension and attacks of shaking /tremors and dizziness and cold sweats.

What would be next Investigations that you will carry out :

1. Random Blood Sugar

2. ECG

Her ECG is found to be normal but her sugar levels are 124 mg/dl.

What is the Diagnosis :

Glicon ( Glimeperide induced Hypoglycemia)

How will you rectify this problem :

Stop Glicon and advise Dietry discretion and a healthy life style to keep her blood sugar levels at appropriate levels.

From the history , it seems that the patient was having symptoms associated with hypoglycemia or cardiac origin.

However her ECG was found to be normal and no mention of chest pain was present on the history as well thus excluding cardiac causes of this problem.

Her Blood glucose levels are found to be on a lower side now meaning she can stop her Glicon tablet and maintain a healthy diet and lifestyle and do physical exercises suitable for her age and keep checking her blood glucose levels regularly.

Glicon ( Glimeoeride ) is a medication used to treat Diabetes Mellitus Type 2.

It is less preferred than Metformin for treatment in Diabetes.

It takes up to 3 hours for it to have maximum effect and effects last for 1 day.

Glimepreide works by causing the pancreas to produce insulin and helps the body use insulin effectively.

This medication helps lowering of blood glucose in patients whose pancreas produce insulin naturally.

Its side effects include :

Hypoglycemia

Headache

Dizziness

Weakness

Unexplained Weight gain

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Endocrinology : Treatment / Management Of Addison"s Disease :

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Endocrinology : Treatment / Management Of Addison"s Disease :

Treatment

Treatment for Addison's disease involves medication.

The patients are given hormone replacement therapy to correct the levels of steroid hormones the  body isn't producing. 

Some options for treatment include oral corticosteroids such as:

Hydrocortisone (Solucortef), prednisone or methylprednisolone to replace cortisol. 

These hormones are given on a schedule to mimic the normal 24-hour fluctuation of cortisol levels.

Fludrocortisone acetate to replace aldosterone.

Plenty of salt (sodium) should be added in the  diet, especially during heavy exercise or if patient gets gastroenteritis.

If the body is stressed, such as from an operation, an infection or a minor illness the dose of steroids may have to be increased.

If  the patient is vomiting and can't keep down oral medications, they may need injections of corticosteroids.

Other treatment recommendations include:

Carrying a medical alert card and bracelet at all times. 

A steroid emergency card and medical alert identification will let emergency medical personnel know what kind of care the patient needs. 

Keeping a written action plan.

Keeping extra medication handy. 

Carrying a glucocorticoid injection kit might be a good idea.

The kit contains a needle, syringe and injectable form of corticosteroids to use in case of emergency.

Missing even one day of medication may be dangerous, so keeping a small supply of medication at work and whenever the patient travels.

Staying in contact with  one”s doctor and keeping them update of their condition. 

Management of Addisonian Crisis :

Treatment for an addisonian crisis, which is a medical emergency, typically includes intravenous injections of:

Fluids / Saline solution

The patient in Addisonian crisis is significantly depleted of both salt and water.

Aggressive fluid resuscitation with 0.9 % saline is vital.

Glucocorticoids / Corticosteroids Replacement :

Give hydrocortisone iv 100 – 200 mg immediately and then 100 mg iv three times a day.

Fludrocortisone treatment needs to be considered in the long term.

But in the acute situation , hydrocortisone remains the treatment of choice.

Glucose monitoring :

There is always a risk of hypoglycemia.

Finger prick blood glucose monitoring  should be done regularly.

If needed, a 10 % dextrose drip may be started at a rate to keep blood glucose more than 5 mmol/l  but should not be given more than needed .

5 % dextrose should be avoided as it may cause / exacerbate Hyponatremia.

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Endocrinolgy : Addison"s Disease : Investigations & Complications

Addison"s Disease : Investigations and Complications.

The investigations for Addison"s Disease include the following :

Blood test :

Tests are taken to measure blood levels of sodium, potassium, cortisol and adrenocorticotropic hormone (ACTH), which stimulates the adrenal cortex to produce its hormones.

A blood test can also measure antibodies associated with autoimmune Addison's disease.

ACTH stimulation test :

ACTH signals body”s  adrenal glands to produce cortisol. This test measures the level of cortisol in the blood before and after an injection of synthetic ACTH.

Insulin-induced hypoglycemia test :

This test is done if a patient has suspected adrenal insufficiency as a result of pituitary disease (secondary adrenal insufficiency).

The test involves checking your blood sugar (blood glucose) and cortisol levels after an injection of insulin.

In healthy people, glucose levels fall and cortisol levels increase.

In certain situations doctors may do alternative tests for secondary adrenal insufficiency, such as a low-dose ACTH stimulation test, prolonged ACTH stimulation test or glucagon stimulation test.

Imaging test :

A computerized tomography (CT) scan of abdomen to check the size of adrenal glands and look for other abnormalities.

Also , an MRI scan of  pituitary gland should be done if testing indicates a likelihood of secondary adrenal insufficiency.

Complications :

Addisonian crisis :

If someone has  untreated Addison's disease, they may develop an Addisonian crisis as a result of physical stress, such as an injury, infection or illness.

Normally, the adrenal glands produce two to three times the usual amount of cortisol in response to physical stress.

With adrenal insufficiency, the inability to increase cortisol production with stress can lead to an addisonian crisis.

An addisonian crisis is a life-threatening situation that results in low blood pressure, low blood levels of sugar and high blood levels of potasium & it requires immediate medical care.

People with Addison's disease commonly have associated autoimmune diseases.

Endocrinology : Pathophysiology of Addison"s Disease :

Pathophysiology of Addisons Disease :

Addison's disease is caused by damage to the  adrenal glands, resulting in not enough production  of the hormone cortisol and, often, not enough aldosterone as well. 

These hormones have effects that influence  virtually every organ and tissue in the body.

Parts of the adrenal glands

The adrenal glands have mainly two parts :

The interior (medulla) produces adrenaline-like hormones.

The outer layer (cortex) produces a group of hormones called corticosteroids.

Corticosteroids include:

Glucocorticoids.

These hormones, which include cortisol, influence the body's ability to convert food into energy, play a role in  immune system's inflammatory response and help the body respond to stress.

Mineralocorticoids.

These hormones, which include aldosterone, maintainr body's balance of sodium and potassium to keep blood pressure normal.

Causes Of Addison”s Disease :

Primary adrenal insufficiency :

When the cortex is damaged and doesn't produce enough adrenocortical hormones, the condition is called primary adrenal insufficiency.

This is most commonly the result of the body attacking itself (autoimmune disease).

For unknown reasons,the body”s immune system views the adrenal cortex as foreign, something to attack and destroy.

People with Addison's disease are more likely than others to have another autoimmune disease as well.

Other causes of adrenal gland failure may include:

Tuberculosis

Other infections of the adrenal glands

Spread of cancer to the adrenal glands

Bleeding into the adrenal glands.

Secondary adrenal insufficiency

The pituitary gland makes a hormone called adrenocorticotropic hormone (ACTH).

ACTH in turn stimulates the adrenal cortex to produce its hormones.

Benign pituitary tumors, inflammation and prior pituitary surgery are common causes of not producing enough pituitary hormone.

Too little ACTH can lead to too little of the glucocorticoids and androgens normally produced by your adrenal glands, even though adrenal glands themselves aren't damaged.

This is called secondary adrenal insufficiency.

Mineralocorticoid production is not affected by too little ACTH.

Most symptoms of secondary adrenal insufficiency are similar to those of primary adrenal insufficiency.

However, people with secondary adrenal insufficiency don't have hyperpigmentation and are less likely to have severe dehydration or low blood pressure.

They're more likely to have low blood sugar.

A temporary cause of secondary adrenal insufficiency occurs when people who take corticosteroids (for example, prednisone) to treat chronic conditions, such as asthma or arthritis, stop taking the corticosteroids all at once rather than tapering off.