A 40 years old male presented with uncontrolled hypertension of two years duration. Despite receiving beta blockers, calcium channel blockers, and an ACE inhibitor, his blood pressure remains elevated. He also complains of polyuria, polydipsia, and generalized muscle weakness.
On examination, his BP is 180/110 mmHg. Funduscopy reveals grade III hypertensive retinopathy. Rest of the examination is normal. Labs show:
Serum Sodium: 147 mEq/L
serum Potassium: 2.9 mEq/L
Bicarbonate: 26 mmol/l
RFTs, BSR and Urine R/E: Normal
- What is the likely diagnosis?
- What is the differential diagnosis?
- What further investigations are required?
- How would you treat this patient?
Key to the above questions and a brief discussion of the topic is given below. New candidates should try to solve the case before looking at the key.
What is the likely diagnosis?
Primary hyperaldosteronism/ conns syndrome
What is the differential diagnosis?
Essential hypertension, pheochromocytoma, renal artery stenosis, Cushing’s syndrome
What further investigations are required?
Aldosterone and renin levels, CT scan of adrenals, bilateral adrenal vein sampling to determine if the cause is unilateral or bilateral
How would you treat this patient with uncontrolled hypertension?
For bilateral adrenal hyperplasia, spironolactone is given.
For a unilateral adenoma, spironolactone or laparoscopic adrenalectomy is required
Hyperaldosteronism or conns syndrome:
Conn’s syndrome or primary hyperaldosteronism is a condition of excess aldosterone secretion by the adrenal glands. It is characterized by uncontrolled hypertension, hypokalemia, and metabolic alkalosis.
Hyperaldosteronism can be due to adrenal adenoma, adrenal hyperplasia (unilateral or bilateral) or rarely adrenal carcinoma.
Clinical features of hyperaldosteronism:
Patients with hyperaldosteronism primarily present with hypertension, hypokalemia, hypernatremia, metabolic alkalosis, and hypomagnesemia.
Because of the effects of hypokalemia patient scan present with muscle weakness. Muscle weakness is more profound in patients with a potassium level of less than 2.5 mEq/L.
Patients with hyperaldosteronism are at increased risk of cardiovascular diseases and strokes compared to other causes of hypertension like essential hypertension Cushing’s syndrome and pheochromocytoma.
Diagnosis of hyperaldosteronism:
Hyperaldosteronism is diagnosed by doing the aldosterone and renin levels. Aldosterone-renin ratio is usually elevated in primary hyperaldosteronism.
Computed Tomographic scans of the adrenal may be done to look for adrenal hypertrophy or a mass/ adenoma. In patients with adrenal hyperplasia, bilateral adrenal vein sampling should be done to differentiate between a unilateral and bilateral disease.
Patients with adrenal adenoma have more profound hypertension, hypokalemia and postural increase in aldosterone levels compared to patients with adrenal hyperplasia. This is also the basis of the postural stimulation test.
Treatment of uncontrolled hypertension and hyperaldosteronism:
Surgery is curative only in unilateral disease. All patients and specifically patients with bilateral adrenal hyperplasia may benefit from aldosterone receptor antagonists like spironolactone and eplerenone.
Laparoscopic adrenalectomy is the procedure of choice. Patients should have plasma aldosterone levels measured one day after surgery to assess for the cure. Patients should be monitored for hyperkalemia after surgery because of transient hypoaldosteronism.
Serum potassium levels should be measured at least weekly for four to six weeks. The preferred intravenous fluid after surgery is isotonic saline without potassium. Patients, when discharged should be advised a sodium-rich diet.
Patients who are not candidates for surgical treatment should be given spironolactone or eplerenone. Since spironolactone has anti-androgen properties, men may be advised eplerenone to reduce chances of painful gynecomastia.
Amiloride is an alternative potassium-sparing diuretic for patients not responding or tolerating both the drugs.
1.Primary aldosteronism ( conn syndrome )
2. D/Dx include malignant hypertension, renal artery stenosis, gitelman syndrome, barrter syndrome.
3. Serum aldosterone level, 24 hour urinary aldosterone excretion test, CT scan and MRI abdomen, adrenal venous sampling.
4. Calcium channel blocker, spironolactone, glucocorticoids, ACE-I and ARBs, and surgical removal of adrenal adenoma.
Great Dr. Yahya but you need to improve your answer to get full marks
Why malignant?
Why bartter and gitelman?
Q1: Primary Hyperaldosteronism
Q2: CAH, Renal Artery stenosis, Cushing’s disease
Q3: Renin and aldesterone serum levels with ratio as serum aldosterone levels will be high and renin will be low which will happen in conn’s syndrome. Unless there is increase in renin level due to some other reason which will lead to increase in aldosterone too but in that case the ratio will be low. In such cases patient will still present with similer symptoms but the reason would not be Primary Hyperaldosteronism.
S. cortisol levels should be done, along with imagine studies like CT and MRI for adrenal glands.
4. As the reason is adrenal hyperactivity, the main aim should be surgical removal. These kind of patients are hard to treat with antihypertensives. we can still use K-sparring diuretics, ARBs.
Male with CAH??
Dr. Yahya whats wrong with CAH?
Sir i mean that can male present with CAH?? CAH can be found in male??
Yes
Sir when we follow your lecture then we will get good marks in sha Allah
Okay sir i thought its a disease of females
CAH again would be down the list as the patient developed HTN 2 yrs back. And yes it does occur both in male and in females. 17-OHase and 21-OHase deficiency both would lead to hypertension and hypokalemia. Maybe u r confusing it with that fact that 17-OHase def. woukd lead to ambigious genitalia in males while 11 and 21-OHase def leads to ambigous genitalia in females due to increase DHEAs and androteinedione. Which is converted to testosterone.
Sir in case of partial enzyme deficiency can a patient present with late onset of symptoms or the symptoms are still present at birth but rather milder form?
Yes you are right but CAH due to 21 hydroxylase deficiency usually presents with hypotension and salt wasting. Thinking of CAH, 11 hydroxylase deficieny presents with hypertension, hypernatremia and hypokalemia.
Answer to this question sir?
Will post the key today IA. Wanted to give some time for the new visitors to think
What is the likely diagnosis?
the clinical and laboratory findings combined with the presence of hypertension suggests the most likely diagnosis of primary aldosteronism, however, the possibility of cushing’s cannot be excluded until detailed history and examination findings are given
What is the differential diagnosis?
Primary aldosteronism
Cushings syndrome
Paraneoplastic syndrome with ectopic ACTH
Exogenous steroids with excessive mineralocarticoid activity
liddle’s syndrome
Resistent hypertension with excessive diuretic use
renal artery stenosis
Hyperthyroidism
What further investigations are required?
Baseline tests including CBC to look for hemoglobin and WBC count, Kidney function test, urine routine examination for albuminuria, hematuria, casts or nitrites, liver function tests, ECG and CXR
plasma Renin and aldosterone levels
CT abdomen
Renal scan
Renal vascular doppler study
dexamethasone suppression test
How would you treat this patient?
Treatment depends upon the underlying diagnosis, however, the focus on to reduce the mineralocortocoid activity by giving spironolactone or other potassium sparing diuretics. In case of adrenal mass, it should be resected. If renal artery stenosis is found then it should be stented