WOMAN WITH MULTIPLE AILMENTS SINCE BIRTH

I was supposed to study the case of a 42 year old woman with multiple health events since she was born  to till date.The original blog regarding this case is provided here.https://classworkdecjan.blogspot.com/2019/05/42-f-with-severe-regular-edema-with_17.html?m=1

Here is a brief description of my views regarding this case :
    Her present complaint was SEVERE REGULAR EDEMA which is generalized.
History of important health events :-
 At Birth : She was diagnosed with severe jaundice.
Neonate : Hyperemesis, swelling of face and abdomen, Tierdness.
CHILDHOOD : Severe headache, Hair growth on face, neck & legs, Infections such as chronic UTI , Kidney infection, Streptococcal throat infection, lung infections, Severe reaction to sulfa drugs, Severe  mood disorders, Sudden raise in heart rate.
ADOLESCENT :Cervical degeneration, scoliosis, Anorexia, Headache severity increased, was diagnosed with anemia.
ADULT : Ectopic pregnancy,diagnosed with PCOS, Kidney infection and Pnuemonia, leg fracture, Severe reactions to Anti-malarial drugs, vaccinated for pnuemonia, diagnosed with swine flu, Sttuttering, memory loss , loss of function of left side of the body, anemia which was diagnosed at adolescence was known as hemolytic anemia after genetic test which revealed G6PD deficiency  and the genetic tests also revealed AMPD1 deficiency.
Genetics :*G6PD deficiency- Seattle variant
                  *AMPD1 deficiency Heterozygous 
                   *MTHFR homozygous mutation
                   *WNK1 mutation :Lysine deficient protein kinase 1
                   *VON WILLEBRAND  factor  gene mutation
 Family history : Father had heart attack in early age
                             Mother is diagnosed with fibromyalgia
CURRENT ISSUES : 1. FREQUENT  FALLS TO LEFT:  This might be due to A.Her inner ear problem as she complained of unbearable feeling of spinning when tured to left i.e. this might be Benign paroxysmal position vertigo. B.As she complains of left hand ,left side of the face going numb and loss of function of left side of the body,it might be Hemiparesis 

2.EASY FATIGABILITY :   This might be a manifestation of  G6PD deficiency   and   AMPD1 deficiency .
Adenosine monophoshate deaminase 1 : This enzyme is responsible for the function of muscles and their movements.Mutation in the genes responsible for synthesis of this enzyme is the main cause. AMPD 1 deficiency is a inherent  disorder which is inherited as autosomal recessive disorder.This patient was diagnosed with Heterozygous AMPD 1deficiency.
Glucose-6-monophosphate dehydrogenase: It is responsible for keeping red blood cells healthy which in turn are necessary for carrying oxygenated blood to all parts of the body to perform their function.

3.SHORTNESS OF BREATH : This also might be due to G6PD deficiency.: Glucose-6-monophosphate dehydrogenase : This is an enzyme present in the RBC which carry oxygen from lungs to tissues throughout the body .The enzyme is designed to produce reduced Glutathione which is used to prevent oxidative damage to haemoglobin &other intracellular structures and their premature destruction.The production of NAPDH by G6PD is essential in red blood cells which are particularly susceptible to damage by reactive  oxygen species because they lack other NADPH producing enzymes .
Shortness of breath is one of the main manifestations of g6pd deficiency.This deficiency is an inherited disorder.

4.EDEMA: She had history of excess intake of salt in food and she also consumed salt whenever she felt sick. Excess salt causes retention of fluid  which leads to edema.Further excess sodium causes kidney damage and increases the blood pressure.

5.EXERCISE INTOLERANCE: This might be mainly due to AMPD1 deficiency.Other causes which might affect are her unhealthy lifestyle such as smoking, consuming more of carbohydrates,fats and salts.

6. HEADACHE : She had history of increasing  headache since childhood. Which was diagnosed as migraine with aura.

7.PCOS : In this case it might be due to excessive Male hormones. As she had history of hair growth on face neck and legs.

8.INSOMNIA :Sleep was of very less duration of 2 to 4 hours with no REM sleep. This might be one of the reasons for increased headache.
9.MOOD DISORDERS: This might be due to headache, pcos and also she is diagnosed with adhd/ autism by therapists.

Recently she was diagnosed with BEHCET'S disease:
This is a rare disorder causing inflammation in blood vessels.
The cause of  Behcet's disease is unknown, but it may be the body's immune system attacking healthy cells ( autoimmune disease order).

TREATMENT GIVEN: 
1.Ribose:it helps in boosting the muscle energy,improve symptoms of chronic fatigue,fibromyalgia.
2.L-serine: helps in the synthesis of phosphatidylserine that is essential for brain cells.
3.Vitamin B complex:
4.Cimitidine: it helped her in reducing swelling
5.NAC:  essential for making powerful antioxidanypt glutathione
6.Iron folate supplements:
7.Anti oxidant supplements Pycnogenol:
8.Nattokinase: used to treat high blood pressure and poor circulation 

Points that need further study:1. She had frontal bossing during her infancy and during  her adulthood she had a pop sound in her head ,feeling of pressure in the neck and behind the left eye and fluid running from the left nostril when she bend forward.what does this suggest ?? Increased intracranial pressure with CSF leakage ? What it as to do with migraine??
2. She gave history of diagnosed adhd ( attention deficient hyperactive disorder)/ autism .Does it not interfere with her work? What was she upto with her social behaviour and communication??



          

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