CASE OF 42 YR OLD FEMALE STRUGGLING SINCE BIRTH

V.SRIJA

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               I have been given this case to solve in an attempt to understand patient clinical data analysis to analyze various aspects  history,clinical findings,investigations and to come up with a diagnosis and treatment

THE PATIENT PRESENTED WITH FOLLOWING CONDITIONS

• Frequent fall towards
• Poor stress response
• Hair loss and fatigueness
• Left jaw pain raidiating to face
• Dyspnea,oligiria on intake of few foods and exposure to smoke
• Craves for salt and fats
• Weakness on exertion
  

PAST HISTORY

•  Jaundice and decreased sleep  at birth
• Except water any intake is vomited,genralized edema
•  Developed severe headaches by 2yrs
• At age 3 had excess hair growth on face,neck,toes,legs 
• In childhood developed uti ,kidney ,lung infections
• Had scoliosis, sprain in knee and ankle ,streptococcal infection 
• Has history of suicide attempt at age 15
• Developed potential sensory disorder mood disorder,frequent temper tantrums
• Frequent migraine,sleep and food intake is same till adolescence 
• As adult she developed mild hemolysis, stuttering and memory loss ,loss of functioning on left migraine episodes are more frequent now                                                          

  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

  MARIETAL HISTORY - married at age 18 

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

  GYNAC 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 .

PERSNOL 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

BOWL AND BLADDER - oliguria, dark or yellow color urine being urinated and sometimes increased, sometimes decreased.

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.

The problems in order of priority are: 

SWELLING
HEADACHES
LEFT-SIDED WEAKNESS
SLEEP DEPRIVATION
EXERCISE INDUCED FATIGUE

Reasons for the above problems:

1.SWELLING
 It started at the age of 1 and patient still swells up in conditions of: Emotional stress, exercise, smoking or eating the wrong food. Swelling is mainly in face ,neck  and abdomen.
 
It might be a part of hemolytic crises occurring in patient due to G6PD deficiency.
 
G6PD DEFICIENCY

It is a X-linked intermediate disease.HMP shunt pathway is affected in this condition where there is decreased production of NADPH.NADPH maintains the levels of reduced glutathione which inturn maintains the RBC integrity.
If the reduced glutathione levels are low then the RBCs become fragile and when they are subjected to oxidative stress undergo hemolysis.

POSSIBLE TRIGGERS IN THIS PATIENT ARE:

• Infections: Recurrent UTI and pneumonia infections
  
• Severe reaction to antimalarials
  
• Severe reaction to sulfa drugs
  
• Severe edema after FAVA BEANS ingestion
  
• Following these triggers the patient had symptoms suggestive of hemolysis like coke coloured urine(hemoglobinuria),diarrhoea,vomiting,swelling and acute kidney injury.

FURTHER EXAMINATION AND INVESTIGATIONS

• Any episodes of jaundice?
  
• Any other specific triggers for hemolysis?
  
• Complete blood picture,Retic count
  
• Liver enzymes
  
• Raised Lactate dehydrogenase levels (sign of intravascular hemolysis)?
  
• Decreased Haptoglobin levels?
  
• Raised unconjugated bilirubin levels?
  

COOMBS TEST which is negative as G6PD deficiency is non immune mediated hemolytic anemia.

SPECIFIC TEST:BEUTLER FLOURESCENT SPOT TEST.

Peripheral smear examination:Bite cells,Blister cells,HEINZ bodies.

SUGGESTED TREATMENT

• Avoiding oxidative stress.
  
• Vaccination against pneumonia is taken ehich helped in preventing infection induced attacks of hemolysis to some extent.
  
• In acute phases, blood transfusion may be necessary.
  
• Apple has good antioxidant properties which the patient is taking daily.
  

2.HEADACHES

• Severe headaches started at the age of 2 and became worse with menses at age 14.
  
• Attacks increased in severity over time.
  
• They are preceded by aura mainly visual.

MIGRAINE
Migraine headache is episodic and 20% are classical (associated with aura).

DIAGNOSTIC CRITERIA FOR MIGRAINE:

• Repeated attacks of headache lasting for 4-72 hours in patients with normal physical examination and no other reasonable cause for headache and at least 2 of the following:
  
• Unilateral headache.
  
• Throbbing pain.
  
• Aggravated by movement.
  
• Moderate to severe intensity.
  
• plus atleast 1 of the following:
  
• Associated nausea and vomiting.
  
• Photophobia and phonophobia.
  

CHARACTERISTICS OF AURA:

• atleast 3 of the following:
  
• Gradual onset.
  
• Lasting <60 minutes.
  
• Fully reversible.
  
• Followed by headache within 60 miuntes or headache simultaneously with aura.
  
• Not attributable to other disease.
  

FURTHER INVESTIGATIONS

Fundus examination: look for papilloedema: sign of raised ICT and helps in ruling out Dangerous type of headache.

CT and MRI

XRAY paranasal sinuses

SUGGESTED TREATMENT

ACUTE MODERATE TO SEVERE ATTACK;

• Triptans (5HT 1B/1D agonists) are used.
• Newer modality of treatment:ERENUMAB:monoclonal antibody against CGRP(calcitonin gene regulated peptide).

3.LEFT SIDED WEAKNESS

• Numbness in left side of face, loss of function on left side of the body.
  
• Had this type of weakness at the time of migraine attack.
  
• Passible dignosis could be HEMIPLEGIC MIGRAINE.

4.SLEEP DEPRIVATION

• Low REM sleep
  
• Less duration : 2-4 hours
  
• Causes for sleep problems:low NADPH ,low glycine and AMPD1 deficiency( increased adenosine levels).

       SUGGESTED TREATMENT

•       L-Serine acts similar to glycine and improves the quality of sleep.

5.EXERCISE INDUCED FATIGUE

•  ADENOSINE MONOPHOSPHATE DEAMINASE 1 DEFICIENCY 
  
• Excess adenosine causes decreased alertness and fatigue.
  
• Exercise intolerance,muscle pain,
• muscle cramping are seen.

SUGGESTED TREATMENT

Ribose (0.2 g/kg) daily and hourly dosing provides direct source of energy for cells in cases of exertion.

OTHER PROBLEMS OF THE PATIENT
MTHFR (Methylene tetrahydrofolate reductase) MUTATION

• Increased homocysteine levels,decreased folate and B12 levels.
  
• Associated with:Digestive issues,migraines,depression, anxiety,bipolar disease,peripheral neuropathy and scoliosis.

TREATMENT: Folate,Vitamin B6,12 supplements,methionine and 5-MTHF.

    WNK1 MUTATION

• It is a serine threonine kinase which helps in regulation of cation-chloride cotransporters.
  
• Associated with familial hyperkalemic hypertension syndrome.
  

HAIR LOSS

DEGENERATIVE SPINE,HIP AND KNEE PROBLEMS

RECENT UPDATES 

• headache improved and no aura headache or aura migrane
• sleep improved when not on work
• due to covid couldnt take pills for vomiting and diarrhea
• swelling to stressers is seen but less severe
• flare was seen with ulcers in mouth and vaginal
• finally diagnosed as BEHCETS DISEASE which is a autoimmune disease acting on healthy cells