42 years old women with multiple health events since birth

By.G RITEESH 

       ROLL NO. 56 

General medicine case discussion on a 42 year old women with multiple health events since birth

you can find the entire real patient clinical problem in this link

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

From the information collected her current issues are : 

Current issues- frequent falls to the left. Left foot started giving out as well as hand. one fall down stairs sprained and broke ankle (last year). Still 

require large amounts of salt to not feel sick (more salt needed when feeling sick) Ingest about 2-4 Tbs a day. Poor stress response. Swelling/ hair loss

 (head and eyelashes) Fatigue. Left jaw pain up into face. Breathing is always struggle for me.

Intolerance from most foods, smoke. I never sweat generally sick or not sick. Swelling from emotional stress, eating the wrong thing, exercise, smoke.

 Weakness whenever having exertion. Always crave salt and fats, I get swollen I have to take time off work and then rest and after 1-2 weeks feel

 better- sometimes if I can’t rest keep getting sicker and sicker. Always less urination which increase when i am fasting. Sleep was bad with 2-4 hours

 with nearly no REM sleep, but improved since taking L-Serine 20 gm at night, Ribose 2 gm every hour in water, if any major exercise or exertion then 

2 gm before that, 400 mg Cimetidine is helping to reduce swelling which also helping in reducing decreasing androgens and 600 mg NAC to increase

 glutathione antioxidants. Iron folate 500% of rda.

I can be slim stomach in the morning and look pregnant by noon. Food impacts but stress as well. After I was once driving through a wild the fire I severly swelled

Jaundice at birth associated with other congenital malformations

 (Suggests that there may be hemolysis at birth)

Sleeplessness
 (since birth which might have occurred due to   G6PD Deficiency or AMPD1 deficiency)

    {These diagnoses were suspected based on other symptoms like:

Anaemia, Exacerbation of symptoms after consumption of flava beans and antiviral drugs for G6PD deficiency.
Muscle dysfunction for AMPD1 deficiency.}

Sleep deprivation

Onset: 

Since birth

Duration of sleep 2 to 4 hours

Probable causes are G6PD deficiency in this there will be impaired glycolysis so glycine is inhibitory NT

AMPDI deficiency

 Treatment :she is on medication of serine and Cemitidine

Swelling present since one year age

Mostly confined to face and abdomen

Aggrevating factors: Exercise, smoking, some foods like favabeans and on taking drugs like anti malarials, sulfa drugs

Relived by Cimetidine

She had history of dark urine 

 

Differential diagnosis could be

Angioedema 

Congenital heart disease

Renal failure 

G6PD deficiency

 

On history she had dark urine whick is suggestive of UTI or G6PD deficiency

And swelling on anti malarials sulfa drugs fava beans is suggestive of G6PD deficiency 

We can rule out angioedema as she has no history of allergies

Investigations done

CBP shows she is anaemic

AST and ALT increased

Chest x ray shows left atrial enlargement

 

Further investigations

1.Ldh levels

2.bilirubin levels

3.peripheral blood smear

Treatment

She is on medication of Cimetidine

Control of triggers which cause swelling. 

HEAD ACHES:migraine with aura is associated with left sided numbness, left sided spinning movement, memory loss , vision loss.
Differential diagnosis :
Meningitis , encephalitis(no fever)
Brain tumors
Vestibular disorders
Cerebellar disorders
Stroke .

INVESTIGATIONS:EEG,MRI,CTscan,CSF analysis.

TREATMENT:guven-triptamines
Recomended-stay in dark room ,avoid stress
Drugs which triggers the condition and  triptans acetaminophen, ergots.

increased pain tolerance

Onset: since 4 years still present

Associated complaints

Multiple fractures

Fracture of knee

Probably diagnosis

Osteoarthritis

Pcod may be reason because of low estrogen 

CIPA congenital intolerance to pain with anhydrosis

Oligouria

Thee patient complains of decreased urination which increases during fasting.

This might possibly be due to her G6PD deficiency- due to deficiency of NADPH and ATP there is increased loss of ions ( as both are needed for active absorption of ions )

And hence there is decreased urine output and an increased urge to take in salts due their continuous loss

Neurological Symptoms
The patient gave a history of delayed development associated with multiple neurological symptoms of Aggression, Anxiety, Sensory disorders, Severe headaches.
Her neurological symptoms can be attributed to Glycine deficiency due to G6PD deficiency - This might cause cerebral Edema. 
Her head aches were preceded by Aura and associated with numbness and vertigo. She had a history of CSF rhinorrhoea.
Oxidative damage to the brain because of depleted NADPH might be responsible.
Treatment:
Triptans - For Migraines

OTHER GENETIC CONDITIONS and PROBLEMS

PCOS --the symptoms include hirsutism, dysmerrhoria , menorrhagia, ovarian cysts, mood disorders, ectopic pregnancy

• MTHFR  mutation- homozygous for C677T of MTHFR - leading to 
• high homocysteine,low B12 and folate levels

• Elevated levels of homocysteine have been associated with a number of disease states.

  Cardiovascular risks[edit]

  Elevated homocysteine is a known risk factor for cardiovascular disease as well as thrombosis

  Neuropsychiatric illness

  Evidence exists linking elevated homocysteine levels with vascular dementia and Alzheimer's disease ....explains why she FORGOT HER WAY TO HER REGULAR SHOP!!.There is also evidence that elevated homocysteine levels and low levels of vitamin B6 and B12 are risk factors for mild cognitive impairment and dementia. Oxidative stress induced by homocysteine may also play a role in schizophrenia.[13]
  

  Bone health

  Elevated levels of homocysteine have also been linked to increased FRACTURES in elderly persons.She had multilple fractures!! 

  Ectopia lentis

  Homocystinuria is the second most common cause of heritable. ectopia lentis...this explains her POOR VISION!!

• WNK1 mutation--- People with HSAN2A lose the ability to feel pain or sense hot and cold....maybe reason for her high pain tolerance
• VWF MUTATION - association with Von Willebrand disease type 1.Women may experience heavy menstrual periods and blood loss during childbirth
• DIO2--Deiodinase 2 (DIO2) plays an important role in thyroid hormone metabolism and its regulation.Hence polymorphim in this gene leads to osteoarthritis, psychological disorders, reduced thyroid hormone metabolism, Type 2 diabetes, and various other conditions . 
• Raised cortisol levels--may be due to constant stress and depression