Category Archives: OPD

Polycystic ovary syndrome (PCOS)

No single test. Polycystic kidneys are a common incidental finding at USS, so not sufficient for diagnosis.  Also operator dependent esp teens.

  • Hirsutism (even male pattern baldness), But NOT virilisation (eg clitoromegaly, voice changes, musculature).
  • acne (moderate to severe),
  • irregular periods.  Can be amenorrhoeic, dysfunctional uterine bleeding, infertility but 20% have normal cycle.
  • Obesity (35-50%, not all),
  • Acanthosis nigricans.

Insulin resistance is associated, and obviously presents the most important long term risk. Acanthosis nigricans is highly associated with insulin resistance, family history of type 2 or gestational diabetes a clue.

Differential includes pregnancy, hypothyroidism, hyperprolactinaemia (mild hyperprolactinaemia commonly seen in PCOS, transient), late onset Congenital Adrenal Hyperplasia (CAH), ovarian/adrenal tumour, Cushing syndrome.

Investigations

  • LH/FSH – ratio often high (3:1 or more) but inconsistent so not considered diagnostic
  • Testosterone can be high (up to 4.8) – if higher, suggests alternative diagnosis
  • Free androgen index (=testosterone x100/SHBG) can be high but our lab only calculates for adults – reference range of up to 7
  • SHBG – low in PCOS (and in obesity, hypothyroidism, hyperprolactinaemia). Plus marker of insulin resistance),
  • Prolactin, 17OH Progesterone for differential
  • Fasting glucose/insulin ratio (under 4.5=insulin resistance, up to 7 in adolescents), glucose tolerance test, lipids.

Manage symptoms (for young people hirsutism, adults infertility) and long term risk viz diabetes and cardiovascular disease.

Note that less than 4 menses per year has higher risk of endometrial cancer.

Consider:

  • oral contraceptive pill (OCP) – progesterone only, or combined, or else 12 week cycles of medroxyprogesterone acetate 5mg BD followed by 1 week break – NOT contraceptive!
  • Metformin
  • Spironolactone (has anti androgen effect)
  • Plucking/shaving/electrolysis/laser, eflornithine cream
  • Clomiphene for fertility.

[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1069067/]

Asthma

See BTS/SIGN/NICE 2025 guidance on asthmaasthma prevention, asthma and obesity

FeNO is expensive and available in only a minority of GP practices and hospital services.  Requiring it means GPs can no longer make diagnosis themselves.

Spirometry results in most primary care patients with asthma are normal!

Spacer best for everyone! Orange aerochamber is small mask, up to 18 months, yellow is 1-5yrs. Green is 5+, blue is adult. You can get blue with mask, not green.

200 doses in an MDI.   2 puffs BD exhausts an MDI in 50 days. Multidosing 5 puffs 4hrly will exhaust it in 6 days.

Growth Restriction

Children who use inhaled steroids for asthma grow slower than their peers in the first year of taking the medication, by about half a centimetre per year. Metanalysis of 25 trials, various types of steroid.  Seems to be most obvious in initial year of treatment.  Only 1 study followed children into adulthood – budesonide, used for average of 4 years – reduction in final height of  1.2cm (Kelly, PMID 22938716).

Should therefore be prescribed at the lowest effective dose. Cochrane 2014 found significant difference between low dosing (50-100 Clenil equivalent) and medium dosing  of 0.2cm per year but noted that the  majority of trials did not report height data.

However, the small effect on growth needs to be weighed against the proven benefits of these drugs in controlling asthma, and ensuring children’s lungs grow to their full capacity.   Undertreated asthma is much more likely to have a harmful effect on a child’s development than a small reduction in growth.

Newer Therapies

Xolair=Omalizumab, monoclonal vs IgE. Subcut, 2-4 weekly, for age 6+ where conventional therapy not working.  Other criteria are total igE >30, positive tests for aeroallergens, FEV1<80%.

Airsonett is evidence based, temperature controlled laminar flow system for bedroom. Noisy!

Management

See National review of asthma deaths.  Recommendations include:

  • Refer specialist if >=2 courses oral steroids within 12 month period
  • Follow up after every ED/OOH attendance
  • Hospital follow up after every hospital attendance
  • Annual inhaler technique check
  • Personal asthma plan for everyone

See MyLungsMyLife.org website for self management.

Penis problems

The foreskin cannot, and should not, be retracted in newborn babies.  It should gradually begin to separate in the first few years of life. Sometimes it takes until puberty.

Retraction should lead to a pouting appearance of the foreskin. Technically this is not phimosis, which implies an abnormality. Some ballooning with micturition is seen, and is not an indication for surgery.

Can try application of topical steroid cream to speed up separation eg 0.025% betamethasone (1 in 4, or RD) cream twice daily for 2 to 4 weeks.  Gently retract foreskin without causing any discomfort and apply a thick layer of cream to the tightest part of the foreskin.  Steroid creams of higher potency may be tried if this fails.

Inflammation of the foreskin (posthitis), glans (balanitis) responds usually just to hygiene measures – bathing, cleaning, drying. Antibiotics might be needed if spreads on to shaft. Topical steroids can help.

Circumcision if significant phimosis and steroid creams fail.

Smegma pearls

Retained smegma can accumulate into substantial but painless lumps down the shaft of the penis.  Can be ignored.

Balanitis Xerotica Obliterans

A form of lichen sclerosus affecting the tip of the penis. No pouting of foreskin seen on retraction. Can be white, crinkly thickening. Can be bleeding, discomfort. No good evidence for topical steroids, usually surgical treatment.

Trichotillomania

Or repetitive hair pulling.  Previously classified as an impulse control disorder, ie a sense of tension that is only “satisfied” when hair is pulled out. However, many children do not get this tension and gratification so in DSM-V trichotillomania is included among obsessive-compulsive and related disorders.

Dutch cohort mostly girls, literature says no gender difference!   Nail biting can co-exist, as can stereotypies.  Many kids will also eat their hair once it is pulled out.  Most common age of onset is in early adolescence (9-13 years), but frequently occurs in early childhood, even as early as 12 months of age.  Triggering factors identified include concerns about physical appearance, family and school issues, and concurrent illness.  Parents sometimes also pull their hair, so maybe (partly) learned.

Two distinct types of trichotillomania described: automatic and focused

  • Automatic – outside of own awareness, may not recall actual pulling, but may admit to ‘playing with their hair’ or may have been noted to pull their hair in a distracted state.  Children tend to fall into this category.
  • Focused – aware, in response to negative emotion or urges

Parents often miss the hair pulling and only present when hair clumps noticed on surfaces (esp bed –  presumably due to pulling in sleep) or bald patches appear.

On Examination

Exclamation mark hairs (thin proximally, at scalp, normal distally), usually thought of being evidence of alopecia areata, may be seen, so not very predictive.  Pull test – gentle traction on about 20 hairs in 3 different locations.  Positive if more than 5 hairs extracted – suggests active alopecia areata.  You may miss dormant alopecia, but in that case hair regrowth should occur.

[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4857813/]

Stereotypy

Where children present with abnormal movements, consider:

Stereotypies are repetitive non-functional movements, typically hand flapping or twisting, body rocking, head banging/nodding, grimacing, arm flapping. As with tics, there is often a family history, and there is an association with obsessive compulsive tendencies.

They can be present in children with normal development, but are a feature of neurological disorders especially autism spectrum disorder and sensory impairment.  In these children, the movements are part of a period of introspective absorption, they make prefer such activity to conventional social interactions.

There are a number of differences from tics, although they can co-exist:

  • Sterotypy presents younger, eg under 2 yrs.  Tics present from 4 onwards.
  • Tics can vary over time, so grimacing moves on to  shoulder jerks, then moves on to clearing throat.  Stereotypy movements are unchanging.
  • Stereotypy movements are rhythmic, rather than just a single jerk
  • Tics are brief, stereotypy can be prolonged
  • Tics have a premonitory sensation (although only older children may be aware)
  • Tics can be suppressed with effort.  Children with stereotypy can be distracted but may resent it! (Similarly self gratification)

Excitement and stress are triggers for both.  Over time, the child usually becomes aware of social disapproval and may suppress the behaviour except in secret!

[Ulster Med J 2014;83(1):22-30]

 

 

 

Recurrent aphthous ulcers

Very wide range of risk factors and causes for aphthous ulcers including any sort of physical or chemical irritation, there are probably genetic factors.

Minor vs major vs herpetiform: how big and painful!  HSV is possible but tends to affect lips and produce crusts.

There is some suggestion that iron, Folic Acid and B12 deficiencies can trigger it.

Food triggers: acidic foods such as tomato, citrus. Nuts, chocolate, wheat and spices.

Cinnamon and benzoates – Glasgow study of adults with RAS or Orofacial granulomatosis and other oral mucosal diseases found significantly higher rates of positive patch testing in both groups (70%, cf 60% of controls!), esp food additives (benzoic acid, salicylic acid, tartrazine, glutamic acid, butylated hydroxytoluene, butylated hydroxyanisole, propylene glycol, sorbic acid and sodium metabisulphite), – 41% contact urticaria cf 22% controls – with high rate for benzoate,  Perfumes and flavourings 40.7% overall, vs 9% controls –  of which cinnamaldehyde most important (32.4%).  Chocolate was mentioned specifically but actually only 3.7% positive.  [QJM. 2000 Aug;93(8):507-11. PMID 10924532]

Aphthous ulcers can be a sign of an underlying problem including inflammatory bowel disease, coeliac disease, Behcet’s and PFAPA syndrome but you would expect other signs and symptoms.

The less obvious cause would be cyclic neutropaenia.

Aphthous ulcers can be a lifelong problem although they tend to be less of an issue after teenage years.

Treatment

Apart from Bonjela, Difflam spray, chlorhexidine mouth rinse.  Cholinesalicylate dental gel (not licensed under 16 years).

Steroids: Hydrocortisone dissolving tablets, else a steroid inhaler sprayed in to the mouth or Betametasone soluble tablets as  mouthwash (unlicensed).

BNFc mentions doxycycline rinsed in mouth!

Salt water rinses, applying teabags or Aloe juice directly to the ulcers!?

The GINI study

German study from 1998.

Some potential benefit from using hydrolyzed formula in terms of preventing allergy.  The relative risk for the cumulative incidence of any allergic disease in the intention-to-treat analysis (n = 2252) was:

  • 0.87 (95% CI, 0.77-0.99) for partially hydrolysed whey-based formula (pHF-W),
  • 0.94 (95% CI, 0.83-1.07) for extensively hydrolysed whey-based formula (eHF-W) eg Pepti, and
  • 0.83 (95% CI, 0.72-0.95) for extensively hydrolysed casein-based formula (eHF-C) eg Nutramigen compared with standard cow’s milk formula.

The corresponding figures for atopic eczema/dermatits (AD) were 0.82 (95% CI, 0.68-1.00), 0.91 (95% CI, 0.76-1.10), and 0.72 (95% CI, 0.58-0.88), respectively.

In the per-protocol analysis (ie where patients stuck to protocol) effects were stronger (0.49 for eczema at 1yr). The period prevalence of AD at 7 to 10 years was significantly reduced with eHF-C in this analysis, but there was no preventive effect on asthma or allergic rhinitis.

[J Allergy Clin Immunol. 2013 Jun;131(6):1565-73. doi: 10.1016/j.jaci.2013.01.006. ]

Cochrane review 2009 biased towards GINI data.  Since then big Melbourne study (MACS) not in favour; per protocol analysis for eczema at age 1 yr did not show any benefit (0.55-1.93).

Even with GINI, NNT could be as high as 80!

[http://onlinelibrary.wiley.com/doi/10.1111/pai.12138/full]

15 yr follow up of GINI study – between 11 and 15 years,

  • prevalence of asthma was reduced in the eHF‐C group compared to CMF (OR 0.49, 95% CI 0.26–0.89)
  • cumulative incidence of atopic rhinitis was lower in eHF‐C (risk ratio (RR) 0.77, 95% CI 0.59–0.99]) and the AR prevalence lower in pHF‐W (OR 0.67, 95% CI 0.47–0.95) and eHF‐C (OR 0.59, 95% CI 0.41–0.84).
  • cumulative incidence of eczema was reduced in pHF‐W (RR 0.75, 95% CI 0.59–0.96) and eHF‐C (RR 0.60, 95% CI 0.46–0.77), as was the eczema prevalence between 11 and 15 years in eHF‐C (OR 0.42, 95% CI0.23–0.79).
  • No significant effects were found in the eHF‐W group on any manifestation,nor was there an effect on sensitization with any formula.

[Allergy 2016; 71: 210–219. http://onlinelibrary.wiley.com/doi/10.1111/all.12790/abstract]

Tension headache

Tension headache

  • Mild to moderate rather than severe,
  • pressing or tightening rather than pulsatile,
  • Bilateral,
  • Not aggravated by routine physical activity.

Can be continuous. Phonophobia, photophobia, nausea are possible, but if more than one present, and particularly if vomiting or severe nausea, then migraine would be preferred diagnosis.

Often spreads into or arises from neck.

Chronic tension-type headache – as above but on >/15 days/month for at least 3 months. But gets messy – it is possible that a patient can have both this and Chronic migraine, viz only two of the four pain characteristics are present and associated with mild nausea. In all these cases consider Medication-overuse headache.

Headache

Common problem in children, as well as adults!

Distinguish primary from secondary.

Most headaches get worse with exertion so that’s not a discriminating feature.  Headaches that get worse on standing suggest a CSF leak; worse on lying down suggests a tumour.  See NICE CKS.

Primary

Secondary

Migraine

International Headache Society 2004 Migraine without aura def:

  • A – at least 5 attacks fulfilling B-D
  • B – lasting 1-72hr
  • C – at least 2 of:
    • unilateral, may be bilateral frontotemporal but not occipital;
    • pulsing;
    • moderate or worse pain;
    • aggravation by routine physical activity eg walking, stairs
  • D – during headache at least 1 of: nausea +/or vomiting, photophobia and phonophobia (which may be inferred from behaviour)
  • E – not attributed to other disorder

Aura – Hemianopia or spreading scintillating scotoma. Note that migraine with aura is a contraindication to treatment with combined oral contraceptives.

Some specific types:

  • Hemiplegic – can be familial or sporadic.  Can be confusion.  Rare to not have headache with it (but then diagnosis perhaps not recognised!?).  Triptans were initially thought to be risky, but more recently good evidence of usefulness and no longer contraindicated in BNFc.
  • Ocular/retinal – blindness or flashing lights, may not be headache.  NOT aura, which is prodromal.  Horner’s syndrome seen.
  • Basilar (also called Bickerstaff’s – but better termed migraine with brainstem aura) – transient dysarthria, vertigo, tinnitus, hearing impairment, diplopia, ataxia, confusion, bilateral paresthesia,
  • Confusional

Pathology

Neuronovascular condition – baseline hyperexcitability in cortex.

Double the risk if you had infant colic, which is not true for tension headache!  Sleep disruption as common factor? [JAMA 2013;309:1607-12]

Several genetic links found eg C677T mutation of the methylenetetrahydrofolate reductase gene (MTHFR), EAAT2. [J Headache Pain. Jan 2012; 13(1): 1–9.  doi:  10.1007/s10194-011-0399-0]

Investigations

Beware Occipital epilepsy!

American Academy of Neurology recommendations are that neuroimaging should be considered in:

  • recent onset of severe headache;
  • change in type of headache;
  • or neurological dysfunction;
  • seizures

Factors

  • Biofeedback and relaxation/stress management are as effective as beta blockers. Indian trial of yoga for migraine showed substantial improvement at 3 months [neurology 2020]
  • Sleep disturbance is associated but not necessarily causal – so recommend good sleep hygiene.
  • Exercise is beneficial.
  • Obesity – clusters with diet, exercise, sleep issues of course.
  • Missing breakfast is a common precipitant.
  • Episodic migraine (without aura) can become chronic (ie 15 days per month or more), but in this case you would always want to exclude medication overuse.
  • Caffeine is linked to headache and also sleep/mood disorder which exacerbates. Withdrawal headache can last as long as a week.
  • Wine is well recognised trigger in adults!
  • Often linked to menstrual cycle.
  • Screen time (>2hrs per day) linked to migraine but not non-migraine headache in French and Sri Lankan students.  Doesn’t necessarily mean reducing screen time helps, of course.  But note eye strain, posture relevant too.  And possibly differences between TV/PC use and mobile devices.
  • Some evidence for magnesium and zinc supplementation

[CurrOpPeds Dec 2004]

Diet

Although popular perception is that migraine is caused or at least triggered by dietary factors, there is a wide variation in reporting of dietary triggers. Certainly migraine is associated with obesity, and dietary habits seem to be as important as specific foods, and there is probably a cycle of inconsistent nutrition and poor control of migraine.

My colleagues talk about 4Cs (chocolate, cheese, coffee, citrus) but I have found no evidence for this.  Awareness of possibility of dietary triggers actually has greater influence on perception of personal triggers than personal experience!  See below.

Some evidence for lipid intake esp PUFA (decreased ingestion of lipids was associated with a decrease in the frequency, intensity, and duration of migraines and a decrease in the use of medication) but confounded by obesity, weight reduction, and changes in nutrient intake.  Another study found reduced migraine spells among children subjected to a diet rich in fibre. Not much evidence for cheese at all! [Nutrition Reviews. 70(6):337-56, 2012 Jun.  UI: 22646127]

Trial of cyanocobalamin, folate, and pyridoxine (2 mg of folic acid, 25 mg vitamin B6, and 400 microg of vitamin B12) in patients with MTHFR gene defects found a reduction of homocysteine levels and improvement of migraines. [Pharmacogenetics and Genomics. 22(10):741-749, October 2012]

Medication

Paracetamol, ibuprofen, and nasal-spray sumatriptan are all effective symptomatic treatments for episodes of migraine (peds sys rv 2005). Migraleve is paracetamol, codeine (8mg), buclizine – for 10yr plus. Paramax, with metoclopramide, for 12 yr plus.  Anti-emetic improves pain killer absorption so potential benefit even if no nausea!

Sumatriptan was previously contraindicated for hemiplegic migraine, but this was probably a theoretical concern, and there is evidence that it works. No caution or contraindication mentioned in BNF now.

Mefenamic acid for menstrual, esp with dysmenorrhea.

CGRP receptor antagonists – olcegepant, telcagepant [not in BNF].  Now erenumab [monthly subcut injections, BNF says specialist use only, minimum 4 migraines per month – SMC approved with restrictions], eptinezumab etc vs same calcitonin gene-related peptide receptor.  Significant improvement in headaches in 40%, about 3 less headache days per month.

For prophylaxis, Pizotifen does not work (grade I evidence, plus makes you fat), flunarizine (CCB) is the most effective (not in BNF), also amitriptyline (dangerous in overdose), propanolol (dizziness, sleep disturbance, depression etc, also dangerous in overdose). Encouraging data (grade IV) for anti-epileptic mediations topiramate, valproate, levetiracetam, zonisamide. Cyproheptadine? Candesartan (anti-hypertensive, in BNF for migraine prevention)?

Always increase preventer dose to maximum before giving up, note that often symptoms worsen after initial benefit.

Current evidence on the efficacy of percutaneous closure of patent foramen ovale (PFO) for recurrent migraine is inadequate in quality and quantity. The evidence on safety shows a small incidence of well-recognised but sometimes serious adverse events, including device embolisation and device prolapse (each reported in less than 1% of patients). Therefore this procedure should only be used with special arrangements for clinical governance, consent and audit or research. [NICE]

Contraception

Combined oral contraceptives are contraindicated in migraine with aura.  But may be useful if menstrual pattern to headaches if no aura.

Prognosis

50% migraine in childhood remits at puberty. Onset in adolescence associated with persistence.

Support

Patient support at Migraine Trust.