42 year old standing bold and fighting against all the health issues she has...

This is online E log book to discuss our patient's de-identified health data shared after taking his/her/guardian's signed informed consent. Here we discuss our individual patient's problems through series of inputs from available global online community of experts with an aim to solve those patients clinical problems with collective current best evidence based inputsThis e-log book also reflects my patient centered online learning portfolio and your valuable inputs on comment box is welcome

G. Saahithya Reddy

Roll no-141

   

          Patient clinical data analysis 

Current conditions :

The patient has frequent falls to the right. Her left foot and hand started giving out. She has poor stress response Rashes on face (2-4 times a year) . Develops swelling, hair loss and fatigue. She has left jaw pain radiating to the face. She has dyspnea, oliguria .develops swelling when ingesting most of the foods, or smoke.Finds herself to be slim morning and appears to be a pregnant in the noon.  Develops weakness on exertion. Craves for salt and fats. Ingests 2-4 tbs of salt when she feels sick. 

Past history :

As an infant- jaundice at birth, tongue tie and upper lip tie, used to sleep less,  vomited anything apart from water, developed generalised edema

2 year old- Developed severe headaches

3year old- excess hair growth on face, neck, toes and legs ,sleep duration continued to be the same, ate nothing almost. 

Childhood - developed chronic uti, kidney infections and lung infections but due to vaccination she wasn't admitted in the hospital on X-ray she was found to have scoliosis , She had multiple ankle and knee ,sprains, developed streptococcal throat infection attempted suicide at around age 15 . 

Adolescent : developed Potential sensory disorder (high pain tolerance), mood disorders, frequent temper tantrums. Frequent migraines which are still present Now. 

Adult- she was found to have mild hemolysis,  stuttering and loss of memory, loss of functioning on left side,  Aura,  migraines frequency and intensity has increased. 

Past surgical history :failed LASIK, ectopic pregnancy. 

Past menstrual history :

 Age of menarche-14 

Severe abdominal  pain and headaches around the time of menses and heavy bleeding 

Marital history - married at age 18 

Obstetric history-

Found to have ectopic pregnancy for which she underwent surgery but complains of waking up in the middle of surgery. 

Gynaecological history - 

She had multiple ovarian cysts found on scanning

Drug history-

She has taken cimetidine for swelling ,NAC to increase glutathione antioxidants. 

And iron folate. She used triptamines for headache. L-serine to improve her sleep deficit. Ribose has helped performing daily activities even better. 

Drug allergies : sulfa drugs( antimalarials)

Family history :

 mother has a history of fibromyalgia, father had heart attack And grand father had an early death .

Personal history :

Diet-5%carbohydratesand 95%others.

Appetite -  lack of appetite since birth. She would be forcefully fed via nasogastric tube. 

Sleep-deprived since birth but improved after taking l-serine

Bowel and bladder movements - oliguria, dark or yellow color urine being urinated and sometimes increased, sometimes decreased.

On examination - her vitals are found to be normal but her bp is raised after consumption of fava beans. 

She's found to have generalised edema. 

Lab reports - https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1 for detailed lab reports. And more detailed history. 

 So, according to the history above the problems in order of priority I found are:

Swelling of the body

Left side going numb. 

Rash on face

Severe headaches

Sleep deprivation 

Oliguria

1.Swelling :  she's diagnosed as hemolytic anemia patient, G6PD deficiency can cause congestive heart failure which could be the cause of shortness of breath  and kidney failure due to which probably she might have developed swelling and fatigue due to oxidative stress.Shortness of breath can be even caused due to hiatus hernia. G6pd deficiency G6pd catalyzed the rate limiting step in pentose phosphate pathway and generates NADPH which in turn produce glutathione which protects against oxidative stress.  Generally such patients develop congenital hyperbilirubinemia and may be this patient had jaundice at her birth.  Triggering factors include: fava beans hence after consumption she had even more swelling and increased bp ,drugs like sulfonamides and antimalarials. and since she has decreased nadph and ATP she has loss of ions. Decreased urination and facial edema. 

Investigations done:

Complete blood count -anemia 

Ast and alt -increased 

Chest-x-ray-left atrial enlargement

Ecg -right heart enlargement
Echocardiography

Investigations recommended:

Lactate dehrogenase (ldh) level

Serum haptoglobin level 

Peripheral blood smear

Treatment- she has taken cimetidine to reduce her swelling. It has worked but she developed sweating after its use. Ribose taken to reduce fatigue as it helps in production of ATP. 

My recommended treatment-remove the underlying cause. If required blood transfusion and oxygen therapy to be given. 

2.Rash - since she's diagnosed as behcets syndrome patient ,due to the autoimmunity towards the blood vessel it leads to vasculitis which includes development of rash, blurred vision (which probably explains failed lasik)

Triggering factors -stress, menstruation, other skin and oral trauma can aggravate the symptoms. 

Diagnosis - by signs and symptoms 

Recommended -pathergy test or skin prick test. 

3.sleep disturbances - 

G6pd deficiency impairs glycolysis metabolism hence there's decreased formation of glycine. 

Treatment -L-serine which acts like glycine and induces sleep after which the patient has improved the timing of her sleep. 

4.Headaches(migraines with Aura) 

The exact cause of migraine is to be evaluated. It is associated with Aura and left sided numbness , mild memory loss, stuttering of speech and nausea and vomiting. 

Differential diagnosis - 

Migraine

Secondary headache - transient ischaemic attacks

Giant cell arteritis

Toxic and metabolic causes

Brain neoplasms

Thunderclap headache 

Stroke

Csf pressure related secondary headaches

Probable investigations 

Csf analysis 

CT scan 

MRI of brain

EEG 

Treatment taken:

Triptamines ,Nattokinase which has brought great change in her symptoms. 

Treatment recommended:

Suggest her to stay in a dark room. 

Avoid triggering factors like drugs, stress. etc and advice treatment of triptans , Acetaminophen, ergots and antiemetics

5.Oliguria: it is probably believed to be caused due to oxidative stress occurring in G6PD deficiency  which explains reduced NADPH production and loss of ions causing decreased urination associated with dark color urine

Other causes of oliguria:

Physical trauma

Infections

Shock

Investigations recommended:

Urine output 

Urine examination

Ultrasound /CT abdomen

Blood tests 

Cystoscopy

Treatment recommended: 

Increase fluid intake

If infections -treat with antimicrobials

Diuretics (but no influence on the patient) 

Evaluation as to why patient developed left side numbness is to be done. 

Reference

- Wikipedia 

-blog done by Avinash Sir. https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1