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A 42 year old female with multiple health events since birth


I have been given this case to solve, in an attempt to understand the concept of "patient clinical data analysis" to progress my competency in reading and comprehending clinical data including history, clinical findings, investigations and to come up with a diagnosis and treatment plan.

You can find the entire real patient clinical problem in this link below:

Following is my analysis of the patient's problem:

The problems in order of priority i found are:
  • Headaches
  • Swelling
  • Left side weakness
  • Sleep deprivation
  • Fatigue
And the reason for the problem:

1. HEADACHES

- Onset of severe headaches at the age of 2.
- Became worse with menses at age 14.
- Over time, attacks increased in severity.
- They are preceded by aura ( mainly visual )

MIGRAINE

- Migraine headache is episodic and 20% are classical - associated with aura.

Diagnostic Criteria for Migraine [1]
    
A. At least 5 attacks fulfilling criteria B-D
B. Headache attacks lasting 4-72 hr (untreated or unsuccessfully treated)
C. Headache has at least 2 of the following four characteristics:
  • unilateral location
  • pulsating quality
  • moderate or severe pain intensity
  • aggravation by or causing avoidance of routine physical activity (eg: walking or climbing stairs)
D. plus at least 1 of the following:
  • Associated nausea and vomiting
  • Photophobia and Phonophobia
E. Not better accounted for by another ICHD-3 diagnosis.

Characteristics of Aura [2]

A. At least two attacks fulfilling criteria B and C
B. One or more of the following fully reversible aura symptoms:

  1. visual
  2. sensory
  3. speech and/or language
  4. motor
  5. brainstem
  6. retinal

C. At least three of the following six characteristics:

  1. at least one aura symptom spreads gradually over ≥5 minutes
  2. two or more aura symptoms occur in succession
  3. each individual aura symptom lasts 5-60 minutes
  4. at least one aura symptom is unilateral
  5. at least one aura symptom is positive
  6. the aura is accompanied, or followed within 60 minutes, by headache

D. Not better accounted for by another ICHD-3 diagnosis.


FURTHER INVESTIGATIONS [3]
  • Blood Chemistry and Urinalysis.
  • Fundus examination: look for papilloedema: sign of raised ICT and helps in ruling out Dangerous type of headache.
  • CT and MRI
  • X-RAY paranasal sinuses
  • EEG
  • Spinal Tap
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) [4].

2. SWELLING

- The onset was at the age of 1.
- The aggravating conditions at present are emotional stress, eating the wrong thing, exercise, smoke.
- Swelling is mainly in face,neck region and abdomen.

- It is possibly a part of the haemolytic crisis occurring in a patient of 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 in turn maintains the RBC integrity. If the reduced glutathione levels are low then the RBCs become fragile and when they are subjected to oxidative stress, they undergo hemolysis. Low concentration of haemoglobin in patients with anaemia causes a reduced inhibition of basal endothelium-derived relaxing factor activity and leads to generalized vasodilatation. The consequent low blood pressure may be the stimulus for neurohormonal activation and salt and water retention [5].

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.

INVESTIGATIONS [6]
  • Complete blood picture, reticulocyte 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.
TREATMENT
  • Avoiding oxidative stress.
  • Ribose and Cimetidine relieved from this swelling issues.
  • Vaccination against pneumonia is taken which 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.

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.
- Probable diagnosis is HEMIPLEGIC MIGRAINE [7]

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).

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

5. FATIGUE

ADENOSINE MONOPHOSPHATE DEAMINASE 1 DEFICIENCY [8]

- Excess adenosine causes decreased alertness and fatigue.
- Exercise intolerance, muscle pain, muscle cramping are seen.

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 co-transporters.
- Associated with familial hyperkalemic hypertension syndrome.

HAIR LOSS

DEGENERATIVE SPINE,HIP AND KNEE PROBLEMS

LUNG INFECTIONS at age of 4 and 24, vaccinated for pneumonia at 28.

RASHES ON FACE
(2-4 times a year), along with other issues and at the same time warts and EBV reactivated. EBV may explain some of her pre-malignant lesions. EBV may cause dermatomyositis which may be responsible for her ankle sprains and skin rash.

Recently diagnosed for BEHCETS DISEASE

PRESENT TREATMENT

1. L serine 20 gm at night.
2. Ribose 2 gm every hour in water.
3. Cimetidine 400 mg
4. NAC 600 mg
5. Iron folate 500 % of RDA.

- It is a genetic disorder so there's probably no cure.
- Treatment of symptoms(palliative treatment) can be done.
- Avoid triggers like oxidants.
- If Hemolytic episode is seen then hydration followed by blood transfusion based on severity of anemia.

OTHER TREATMENT OPTIONS

1. Ribose diet
2. L serine for sleep
3. cutting oxidative stress 
4. vitamin B complex
5. antioxidant vitamins
6. fructose+antioxdants 
7. salt + butter
8. keto diet.
9. iron folate supplements.
10. antioxidant supplement pycnogenol 
11. cimetidine for swelling - tried and helped
12. NAC

ADVICE:

- Advanced diagnostic modality like Whole Genome Sequencing to identify novel mutations apart from the mutations already identified.
- A detailed family history from both maternal, paternal side and siblings; to identify the at risk relatives and carry out genetic counselling.







sources:

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