28 yo F w/esrd with a facial deformity

Transcription

1 28 yo F w/esrd with a facial deformity Jess Hwang Endocrinology fellow 1/30/14

2 History of renal failure Woke up blind one day At the hospital she was told she was 4 months pregnant Diagnosed with severe pre-eclampsia Resulted in renal failure that never resolved- on hemodialysis ever since Has had non-continuous care from nephrology History of high phos and elevated PTH but just started on Renagel, Sensipar a day ago

3 History of Present Illness ED: We have this lady here who is complaining of facial deformity. I honestly have no idea what is going on but I think it is something endocrine. Difficulty lying flat due to facial changes over the last 3-6 months Her maxilla has grown, fingers are slightly blunted Admitted to an OSH, worked up for SVC syndrome, acromegaly initially Told she just had a dental problem and discharged to follow-up with a dentist

4 Review of Systems Constitional: No fevers, chills. HEENT: No vision or hearing changes. Facial bone deformities. CV: Occasional palpitations. Pulm: Orthopnea. GI: No nausea or vomiting. MSK: Often using a wheelchair. No joint pain. Fingertip blunting. Skin: No rash or skin changes. Endo: Normal menses.

5 Past Medical History HTN (since age 13) ESRD (since 2005) HD T/Th/Sa B patellar fractures (s/p fall) Social History No EtOH, tobacco Lives with boyfriend, 2 children Family History Son- mitochondrial encephalopathy Daughter- mitochondrial encephalopathy No HTN, ESRD, DM Medications (started these a day ago) Sensipar 90 mg daily Renagel 3 tabs TID Amlodipine

6 Physical Exam Vitals: 36.3, 140/104, HR 128, Wt 203 Gen: no distress, appears stated age HEENT: non-tender maxillary hypertrophy. Widespaced teeth. Palate enlargement. Hot potato voice. Neck: no thyromegaly, palpable nodule esp on the R CV: tachycardic Pulm: clear to auscultation GI: soft, obese, no rebound/guarding MSK: in a wheelchair, L arm fistula, blunted fingertips Neuro: alert and oriented Psych: normal

7 6 months ago

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12 LABS Ca 10.1 Phos 6.5 PTH 3627 pg/ml (15-75) 25-OH vitamin D 14

13 LABS Ca 10.1 Phos 6.5 PTH 3627 pg/ml (15-75) 25-OH vitamin D 14

14 Hand X-rays Subperiosteal resorption

15 CT max/facial without contrast

16 Post-ED follow-up She was started on vitamin D supplementation Ordered neck ultrasound and DXA scan

17 Thyroid Ultrasound R superior: 3.6 x 1.5 x 1.7 cm R inferior: 2.2 x 2 x 1 cm L superior: 2.2 x 2 x 1 cm L inferior: 1.7 x 1.3 x 1.7 cm

18 DXA Scan Z -5.4

19 DXA Scan Z -4.4 Z -6.1

20 Referral to Endocrine Surgery Based on the severity of her physical exam and symptoms she was beyond the powers of medical management Endocrine surgery obtained nuclear medicine study for further localization

21 Sestamibi w/spect 4 foci of radioisotope accumulation

22 Subtotal Parathyroidectomy Time I/O PTH Pathology- enlarged parathyroids R superior (3.1 g) R inferior (2.3 g) L superior (2.05 g) L inferior (1.5 g) subtotal Normal = mg

23 Subtotal Parathyroidectomy

24 Post-operative course Hospitalized for 10 days Ca citrate 5 tabs QID on days 5-7 no effect IV calcium gluconate drip had to be double concentrated/switched to 0.9NS secondary to hyponatremia POD 0-1 POD 2 POD 3 POD 4 POD 5-8 POD 9 Calcitriol (mcg) 3 BID 4 BID 5 BID 5 TID CaCO 3 (mg) 1250 QID 2500 QID Ca citrate IV drip-ca gluconate

25 Discharge Recommendations Medications Calcium carbonate 2500 mg QID Calcitriol 5 mcg TID Ergocalciferol 50,000 IU weekly High calcium bath at dialysis Tues/Thurs/Sat Labs at dialysis with planned titration of meds Endocrinology/Endocrine surgery follow-up

26 Post-discharge Course Called 6 days after discharge saying insurance company only dispensed 150 (0.5 mcg) tablets of calcitriol so she was completely out after 5 days! Friday before holiday weekend. Dialysis center had to order high calcium bath so she had not been getting this since discharge Called insurance no answer. Friday before holiday weekend. Worsening tingling of extremities

27 LABS Ca 6.8 Phos 2.0 Ionized Ca 2.81 ( ) PTH 151 pg/ml (15-75)

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29 Second Hospital Course Received IV calcium x 3 days. Hospitalized for 5 days total awaiting approval from insurance to allow for more calcitriol Discharge meds Calcium carbonate 2500 mg QID Calcitriol 4 mcg TID Ergocalciferol 50,000 IU weekly 2 days post-discharge calcium was 8.0 at dialysis

30 Clinical Questions Pathogenesis of osteitis fibrosa cystica in ESRD Uremic leontiasis ossea rare form Hungry Bone Syndrome Risk factors Prevention Management

31 Pathogenesis of Renal Osteodystrophy Active vitamin D analogs Calcimimetics Phosphate binders 2005 by American Physiological Society Rodriguez M et al. Am J Physiol Renal Physiol 2005;288:F253-F264

32 (Uremic) Leontiasis ossea Described first in 1953 Has been associated with Paget s, secondary hyperparathyroidism Requires surgical intervention

33 (Uremic) Leontiasis ossea Hallmark radiology findings

34 Hungry Bone Syndrome (HBS) Rapid shift of calcium from bloodstream bone Post-op, prolonged severe hypocalcemia Tetany, seizures, arrhythmias, cramps/weakness In 25-90% of patients with radiologic bone disease (vs 0-6% without) Most common complication Duration = however long it takes to remineralize

35 Risk Factors for HBS 84 ESRD patients with shpt undergoing parathyroidectomy Time from dialysis to surgery 5.5 yrs Median f/u time post-op 4.7 yrs Significant predictors for HBS: younger age, lower pre-op calcium Pre-op vitamin D therapy, post-op calcium, PTH did not predict who would develop HBS

36 Management of HBS Replenish depleted calcium stores IV calcium (start PO as well) 6-12g elemental calcium per day Calcitriol 2-4 mcg/day* Magnesium *our patient required much higher calcitriol Witteveen JE et al. Eur J of Endo 2013;168:R45-R53.

37 Elemental calcium Calcium formulation Elemental calcium Calcium carbonate (PO) 40% (2500 mg QID) Calcium citrate (PO) 20% Calcium citrate (IV) 27% Calcium gluconate (IV) 10% (1g per hour) Different calcium preparations contain different amounts of elemental calcium. Calcium acetate = phosphate binder only

38 Prevention of HBS Normalize 25-OH vitamin D Pre-op active vitamin D? Pre-op bisphosphonates? Retrospective case series/studies Lee et al. J Bone and Mineral Metab 2006 Malabu et al. Med J of Malaysia 2007 Franca T et al. Revisa Brasileira de Reumatologia 2011.

39 Take Home Points Identify renal osteodystrophy early to prevent significant complications Recognize severe forms of osteitis fibrosa cystica like uremic leontiasis ossea Hungry bone syndrome post-parathyroidectomy initially requires very high doses of IV and PO calcium and calcitriol with close monitoring post-discharge

40 References Witteveen JE et al. Hungry Bone Syndrome: still a challenge in the post-operative management of primary hyperparathyroidism: a systematic review of the literature. Eur J of Endo 2013;168:R45-R53. Latus J et al. Incidence of and risk factors for hungry bone syndrome in 84 patients with secondary hyperparathyroidism. Int J of Nephrology and Renovascular Disease 2013;6: Triantafillidou K et al. Brown tumors of the jaws assoc with primary or secondary hyperparathyroidism. A clinical study and review of the literature. Am J of Otolaryngology- Head and Neck Medicine and Surgery 2006;27: Chan HW et al. Prospective study on dialysis patients after total parathyroidectomy without autoimplant. Nephrology 2009;15: Aggunlu L et al. Leontiasis ossea in a patient with hyperparathyroidism secondary to chronic renal failure. Pediatr Radiol 2004 Aug;34(8): Yang G et al. Total parathyroidectomy with autotransplantation for a rare disease derived from uremic secondary hyperparathyroidism, the uremic leontiasis ossea. Osteoporos Int. Kumar S et al. Big-head disease: uremic leontiasis ossea. Kidney International 2006;69:1709.