Mona Waterhouse

Diagnosing unilateral primary aldosteronism - comparison of a clinical prediction score, computed tomography and adrenal venous sampling.

In patients with primary aldosteronism (PA), adrenalectomy is potentially curative for those correctly identified as having unilateral excessive aldosterone production. It has been suggested that a recently developed and published clinical prediction score (CPS) may correctly identify some patients as having unilateral disease, without recourse to adrenal venous sampling.

Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.

For ‘asymptomatic carriers’ of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers.

A “growing cause” of diabetic ketoacidosis

The progress of a young woman presenting with diabetic ketoacidosis is described. She was managed as for a new presentation of type 1 diabetes, but was subsequently diagnosed with acromegaly due to a large pituitary tumour. Following treatment for this, and relative normalisation of growth hormone levels, she was able to stop insulin completely. Subsequently, an oral glucose tolerance test showed no evidence of abnormal glucose tolerance and she remains non-diabetic.

Clinical outcomes following unilateral adrenalectomy in patients with primary aldosteronism

Background In approximately half of cases of primary aldosteronism (PA), the cause is a surgically-resectable unilateral aldosterone-producing adrenal adenoma. However, long-term data on surgical outcomes are sparse. Aim We report on clinical outcomes post-adrenalectomy in a cohort of patients with PA who underwent surgery. Design Retrospective review of patients treated for PA in a single UK tertiary centre. Methods Of 120 consecutive patients investigated for PA, 52 (30 male, median age 54, range 30-74) underwent unilateral complete adrenalectomy. Blood pressure, number of antihypertensive medications, and serum potassium were recorded before adrenalectomy, and after a median follow-up period of 50 months (range 7-115). Recumbent renin and aldosterone were measured, in the absence of interfering antihypertensive medication, ≥3months after surgery, to determine if PA had been biochemically cured. Results Overall, blood pressure improved from a median (range) 160/95 mmHg (120/80-250/150) pre-operatively to 130/80 mmHg (110/70-160/93), P < 0.0001. 24/52 patients (46.2%) had cured hypertension, with a normal blood pressure post-operatively on no medication. 26/52 (50%) had improved hypertension. 2/52 patients (3.8%) showed no improvement in blood pressure post-operatively. Median (range) serum potassium level increased from 3.2 (2.3-4.7) mmol/l pre-operatively to 4.4 mmol/l (3.3-5.3) post-operatively, P < 0.0001). Median (range) number of antihypertensive medications used fell from 3 (0-6) pre- to 1 post-operatively (range 0-4), P < 0.0001. Conclusions Unilateral adrenalectomy provides excellent long-term improvements in blood pressure control, polypharmacy and hypokalaemia in patients with lateralizing PA. These data may help inform discussions with patients contemplating surgery.

Succinate Dehydrogenase B (SDHB)-Associated Bladder Paragangliomas

Clinical Practice PointsSuccinate dehydrogenase B (SDHB) germline mutations are associated with the familial paraganglioma (PGL) syndrome type 4. SDHB mutations have been associated with predominantly extra‐adrenal PGLs, presentations at a younger age, higher rates of malignancy, and additional non‐PGL neoplasms including renal cell carcinoma, gastrointestinal stromal tumors, and pituitary adenomas.We note a high frequency of SDHB mutations in patients presenting with bladder PGLs and the high number of rare bladder PGLs within our SDHB cohort. We demonstrate a clear difference in the disease phenotype between those bladder PGLs detected via the SDHB surveillance program (screen‐detected) and those presenting clinically (non‐screened). SDHB mutation carriers with a screen‐detected bladder PGL were younger, had less advanced disease, and required less complex intervention compared with SDHB mutation carriers who had clinically presenting (non‐screened) bladder PGLs.There should be a high index of suspicion for an SDHB mutations in patients presenting with a bladder PGL. Intensive surveillance regimens, with particular attention to the bladder region, may allow early identification and intervention for bladder PGLs in SDHB mutation carriers. This may improve outcomes in this cohort in the longer term. Once an SDHB‐associated bladder PGL has been identified, careful long‐term follow‐up should be instigated, given the high risk of metastasis.

A case of thyroid storm complicated by acute hepatitis due to propylthiouracil treatment

Summary A 57-year-old female presented 17 days after treatment with radioactive iodine (RAI) for difficult-to-control hyperthyroidism. She was febrile, had a sinus tachycardia, and was clinically thyrotoxic. Her thyroid function tests showed a suppressed TSH <0.02 mU/l, with free thyroxine (FT4) >75 pmol/l and total triiodothyronine (TT3) 6.0 nmol/l. She was diagnosed with thyroid storm and was managed with i.v. fluids, propylthiouracil (PTU) 200 mg four times a day, prednisolone 30 mg once daily and propanolol 10 mg three times a day. She gradually improved over 2 weeks and was discharged home on PTU with β blockade. On clinic review 10 days later, it was noted that, although she was starting to feel better, she had grossly abnormal liver function (alanine transaminase (ALT) 852 U/l, bilirubin 46 μmol/l, alkaline phosphatase (ALP) 303 U/l, international normalized ratio (INR) 0.9, platelets 195×109/l). She was still mildly thyrotoxic (TSH <0.02 mU/l, FT4 31 pmol/l, TT3 1.3 nmol/l). She was diagnosed with acute hepatitis secondary to treatment with PTU. Ultrasound showed mild hepatic steatosis. PTU was stopped and she was managed with fluids and prednisolone 60 mg once daily and continued β blockade. Her liver function gradually improved over 10 days (bilirubin 9 μmol/l, ALT 164 U/l, ALP 195 U/l, INR 0.9, platelets 323×109/l) with conservative management and had normalised by clinic review 3 weeks later. This case highlights the potentially fatal, but rare, complications associated with both RAI and PTU, namely, thyroid storm and acute hepatitis respectively. Learning points Thyroid storm is an important, albeit rare, endocrinological emergency. Thyroid storm following RAI treatment is extremely rare. Management is with i.v. fluids, β blockade, anti-thyroid drugs and steroids. High dose glucocorticoid steroids can block the peripheral conversion of T4 to active T3. Liver dysfunction, acute hepatitis and potential hepatic failure are significant adverse drug reactions known to occur with PTU treatment. Supervising clinicians should be vigilant for evidence of this developing and intervene accordingly. Clinicians need to be aware of possible interactions between regular paracetamol use and PTU in predisposing to liver impairment.

Characteristics of 'foregut' carcinoid tumours occurring in multiple endocrine neoplasia type 1

Background The most common ‘foregut’ carcinoid tumours in MEN1 are pancreatic neuroendocrine tumours (pNETs). A number of other ‘foregut’ carcinoids may also occur in MEN1, including those of bronchial, thymic and gastrointestinal origin. These latter tumours have reported rates of prevalence ranging from 2% for thymic and bronchial carcinoids, to 10% for gastric carcinoids. Thymic carcinoids are known to be aggressive in nature, whereas bronchial carcinoids are thought to be mostly indolent with no effect on increased mortality in MEN1.