Acromegaly

Vignette says a 50 year old male presents to the primary care physician with gradual onset of SOB, headache and visual disturbances over the past few months; He also reports of fatigue, snoring at nights and daytime sleepiness; He has a history of hypertension and diabetes for which he takes amlodipine and metformin; On examination, he has coarse facial features with prominent frontal bones and jaw, enlarged feet and hands; Vital signs show blood pressure of 150/90 mm of Hg; Lab shows increased IGF-1; OGT test shows failure of GH suppression; Echocardiography shows left ventricular hypertrophy with EF of 55%; MRI of the brain shows pituitary mass; Diagnosis?

Diagnosis is Acromegaly.

Presents with coarse facial features, macroglossia, enlarged feet and hands, diaphoresis, headache, bitemporal hemianopia, OSA, carpal tunnel syndrome, Type 2 DM, HTN, left ventricular hypertrophy and HFpEF (most common cause of death). 

Diagnosis:- 

1. Increased IGF-1. 

2. OGT test shows failure of suppression of growth hormone with oral glucose suppression test. 

3. MRI shows pituitary mass. 

Management:- 

1. Medical therapy includes:- 

a. Somatostatin analogues (e.g. octreotide). 

b. Dopamine receptor agonist (e.g. Cabergoline, Bromocriptine). 

c. Growth hormone receptor antagonist (e.g. pegvisomant). 

2. Surgical resection of the mass (i.e. transsphenoidal surgery).

De Quervain's thyroiditis

Vignette says a 12 year old female presents the to endocrinology clinic with complaints of painful anterior neck swelling for 15 days; She also reports of palpitations, sweating and difficulty sleeping; She recently had upper respiratory infection (URI) prior to the appearance of neck pain; Vital signs show blood pressure of 110/80 mm of Hg, pulse rate of 102 bpm, respiratory rate of 18 breaths/min, oxygen saturation of 92% in RA and temperature of 99.9 F; Local examination shows diffusely enlarged, tender thyroid glands on palpation; TFT shows low TSH and high T3, & T4 levels; Radioactive iodine uptake (RAIU) is decreased; Diagnosis? 

Diagnosis is De Quervain's thyroiditis (subacute granulomatous thyroiditis). 

De Quervain's thyroiditis is a self-limiting inflammatory condition of the thyroid gland which is commonly triggered by viral infection and is usually associated with HLA-B35.

Clinical features include a history of flu-like illness, i.e. fever and URI (e.g. viral infection), preceded by painful thyroid swelling and neck pain. It presents with the triad of fever, painful thyroid swelling and neck pain.
It leads to transient hyperthyroidism (due to rupture of thyroid follicular cells), followed by an euthyroid state and then hypothyroidism. Patients may be euthyroid, hyperthyroid, or hypothyroid, or may evolve from one to another over time.

Diagnosis:- 
1. TFT usually shows hyperthyroid state as patients present in acute phase, i.e. low TSH and high T3, & T4 levels. 
2. ESR is elevated. 
3. Radioactive iodine uptake (RAIU) is decreased. 
4. Biopsy shows granulomatous inflammation (consisting of giant cells clustered with foci of degenerating thyroid follicles).

Treatment:- Most patients return to normal state within 12-18 months (It is a self-limiting disease). 
1. Analgesics:- Aspirin, NSAIDs are given for mild symptoms, whereas steroids are given for severe symptoms. 
2. Hyperthyroid state is managed with propranolol, whereas hypothyroid state is managed with levothyroxine along with TFT monitoring.

Coarctation of aorta

Vignette says a 35 year old female presents to the cardiology clinic with chief complaints of high blood pressure for the last 5 years for which she takes 3 different types of antihypertensive medications; She also complains of persistent headaches, dizziness, and shortness of breath on exertion over the past years; There is no history of cardiovascular disease in the family; Vital signs show blood pressure of 180/100 mm of Hg in right arm and 130/80 mm of Hg in left arm, pulse rate of 88 beats/min, oxygen saturation is 94% in RA and temperature is 97.4 F; On examination radial pulse is strong and fast whereas femoral pulse is weak and delayed (i.e. radio femoral delay); ECG shows left ventricular hypertrophy; Chest X ray shows bilateral rib notching and focal indentation of the distal aortic arch; Echocardiography shows LVH; Routine laboratory reports are within normal limit; USG (A+P) shows normal scan; Diagnosis?

Diagnosis is coarctation of the aorta. 

Coarctation of aorta is the narrowing of the aorta just distal to the left subclavian likely near the insertion/opening of the ductus arteriosus (i.e. "juxta ductal"); Majority of coarctations are diagnosed during childhood, however some cases remain asymptomatic until adulthood. 

Presents with secondary hypertension, radio femoral delay, disproportionate blood pressure between upper and lower extremities (i.e. BP in upper extremity > lower extremity) and left ventricular hypertrophy. Associated with bicuspid aortic valves.

Diagnosis:- 

1. Chest x ray shows rib notching and '"figure 3 sign". 

2. ECG shows LVH. 

3. Echocardiography shows narrowing of the aorta near the ligamentum arteriosum and LVH. 

4. CT Angiography/Cardiac MRI shows the presence, site and severity of coarctation as well as collateral vessels. 

Management:- 

1. Surgical repair involves excision of the narrowed segment and direct anastomosis of the normal aorta whereas transcatheter repair involves balloon dilation with stent placement.