Hypertension in young. Familial Hypertension? (Conversational learning)

A 27year old male patient had came to the General medicine Outpatient with the complaints of Headache, of 2 weeks duration, intermittent in nature not associated with nausea,vomiting,photophobia,neck pain.

History of present illness: 

H/o excessive sweating present even on slight exertion.

H/o Snoring present.

No h/o weakness in any limbs, paresthesias, palpitations, syncope, chest pain.

Past history:- K/c/o Hypertension-Diagnosed 1 and half year back-On Amlodepine 2.5mg OD 

Family history:

Hypertension in two elder brothers and one sister at a young age. One brother was diagnosed to be hypertensive at the age of 29years..Was on medication and at the age of 40 he had a below knee amputation of both lower limbs done in v/o ?Ischemia(no documentation available) and then sudden demise happened.Another brother was hypertensive at a young age...Had Stroke(CVA) and sudden death happened. H/o ?Seizures in both the brothers (as said by the patient)

On Examination at the time of admission-

Patient is conscious and oriented. There's no Pallor, Icterus,Clubbing, Cyanosis, Lymphadenopathy, Pedal edema. 
 

Anthropometry:
Waist circumference: 95cms
Height: 1.69 mts
Waist to height ratio: 0.56 Pulse-100bpm,regular on left radial artery

-90bpm,regular on right radial artery

BP- 140/100mmhg in supine posture on right arm

-170/120mmhg in supine posture on left arm

Dorsalis pedis,popliteal and femoral pulses on left side were feeble.

CVS: S1S2 heard, No murmurs

Respiratory system: Normal Vesicular breath sounds are heard

Per abdominal examination: Soft, Non tender, all quadrants equally moving with respiration,

No organomegaly, No renal bruit heard.

CNS- HMF Intact

Provisional diagnosis- Familial hypertension in young? Secondary causes?

Investigations:

Following necessary investigations available in our set up were done.

As 24hr urinary VMA and metanephrine were not available, spot urinary VMA was done

Ref:  http://keerthiereddy.blogspot.in/2017/11/hypertension-in-young-familial.html?m=1 

Conversation around this case discussed on Whatsapp: 

Vivek: Does the patient have any weight loss, low grade fever or fatigueability? Any history of claudication? What about the pulse on the right radial artery? Did you check blood pressure in lower limbs.

Keerthi: H/o weight loss as since 1 year he regularly did workouts!
No h/o any low grade fever!
No h/o any claudication! As already mentioned above pulse in rt radial artery was 90bpm!

Blood pressure in lower limbs was not checked sir!

Dr. Rakesh: Thanks Dr Keerti can you tell us from the literature the best way to evaluate the lower limb blood pressure and how to calculate the ankle brachial index?

Keerthi: The patient is placed in supine position, with the arms and legs at the same level as the heart, for a minimum of 10 minutes before measurement. An appropriately sized blood pressure cuff for both the ankle and the arms is taken; the cuff width should be, at a minimum, 20% greater than the diameter of the extremity. The ankle cuff should be places on the leg between the malleolus and the calf. The brachial artery blood pressure and the blood pressure in the lower limb is recorded. The ankle pressure is divided by brachial blood pressure to get the ankle brachial index. Blood pressure measurement in the legs is achieved with an appropriate-sized cuff, applied at the midthigh, and by listening over the popliteal artery. If possible, the patient should be in a prone position. The bladder of the cuff should be about 40% of the circumference of the thigh, and the length should be about 75% to 80% of this circumference.

Dr. Rakesh: Do all humans lose weight due to work outs?

Ashwini: Could it be pheochromocytoma? Could it be some genetic factor like familial homocystineurea causing strokes and thrombi or factor V deficiency? Anything leading to hypercoagulation states? Snoring and has weight? OSA? Takayasu arteritis? Lower limb BP? Oh just read it.  Not taken. Sorry didn't see that part

Vivek: Why is there a foul smelling urine? Interestingly Blood pressure difference and pusle difference is reversed on both arms. Arm with high bp has low PR. Is there any blockages midway between radial and brachial artery?

Ashwini: Could be. Xray? Extra cervical rib? Peripheral artery disease or arteritis?

Vivek: What extra cervical rib could do?

Ashwini: Smoking h/o

Vivek: I was thinking of takayasu. Smoking hx?

Keerthi: Not exactly seizures! Patient says they had abnormal involuntary movements, not sure if they were seizures! No he doesnt smoke.

 

Ashwini:  Yeah takayasu toh I said already. That'll probably be higher up on the d/ds. Peripheral artery disease. 

Salma: No the Doppler of the upper limb n lower limb was normal

Ashwini: I still think it's genetic. How can all three brothers have high BP and strokes and die. X linked recessive disease. Is the sister completely fine??

Vivek: BP can be rechecked. That too because of HTN. Pheo (genetic one) is possible.n that case other pituitary features can be evaluated. Any vision loss? Brothers had hx of seizure?

Salma: The patient gives history of hypertension in 1 among the 4 sisters. No h/o visual disturbance or visual loss.

Ashwini: Wait how many siblings does this guy have? 2 brothers who died and one sister? Or 4more sisters. Dr Keerti can you clarify this?

Keerthi: 3 brothers and 4 sisters

Dr. Rakesh:  What about his grandparents? Can you chart his pedigree?

Thanks Ashwini and Vivek. Can you share some literature on what is currently known about the genetics of hypertension. Is there any description of similar families in the literature? 

Keerthi: His grandmother had h/o Hypertension sir! And patient told he will be coming the next week with a person who has complete knowledge about the family so that we can chart his pedigree!

Vivek: "Exceptions to the lack of clinical direction currently provided by genetics are the rare autosomal-dominant monogenic forms of hypertension. In particular, the blood pressure in glucocorticoid-remediable hyperaldosteronism (GRA) responds to steroid supplementation. Although routine genetic testing for these rare syndromes is not clinically available, it may be helpful to pursue genotyping through an interested research facility for families with multiple family members having very early onset, severe hypertension. Testing for abnormal urine metabolites (18-hydroxy and 18-oxocortisol steroids) may be sufficient for diagnosis of GRA."

https://www.nature.com/articles/gim2003368

Familial lipid disorders can be looked for!?

Dr. Rakesh: This patient's lipid profile was normal

Ashwini: Okay and all had htn in the early age or grandma had it as essential htn. Mom and dad no symptoms? Abnormal body movement? Is it like chorea or athetosis? Can the patient describe it a little more? If it's not a seizure? 

Keerthi: The patient says his brothers used to have episodes of shivering movements!
He actually demonstrated it before us which resembled seizures!

Ashwini: Any h/o of birth trauma or head injury. And these shivering movements would happen when? With fever or randomly.

Keerthi: Not with fever. 

Ashwini: When does it happen?

Dr. Rakesh: Dr Annie would you suggest any genetic markers for such a situation as presented in Dr Keerti's thesis case here http://keerthiereddy.blogspot.in/2017/11/hypertension-in-young-familial.html?m=1. 

Dr Sarat can you add the pedigree image drawn and shared by Dr Keerti above as well as the clinical images of the patient's morphological indices such as waist to Dr Keerti's online thesis record? Dr Keerti has the images with her